FEDERICA CARLA SANGIUOLO

Professore ordinario

email: sangiuolo@med.uniroma2.it
telefono: 06/8555915

Produzione scientifica

2108/417406 - 2025 - WDFY3 Haploinsufficiency Is Associated With Autosomal Dominant Neurodevelopmental Disorders and Macrocephaly

Graziani, Ludovico; Carriero, Miriam Lucia; Ferradini, Valentina; Sangiuolo, Federica Carla; Novelli, Giuseppe - 01 - Articolo su rivista

rivista: CLINICAL GENETICS (Blackwell Munksgaard:PO Box 2148, Periodicals Department, DK-1016 Copenhagen K Denmark:011 45 33 755913, EMAIL: agentservices@oxon.blackwellpublishing.com, INTERNET: http://www.blackwellmunksgaard.com, Fax: 011 45 77 333377) pp. 369-370 - issn: 0009-9163 - wos: WOS:001367719700001 (0) - scopus: 2-s2.0-85210593056 (0)

2108/388091 - 2024 - Characterization of the symmetrical benzimidazole twin drug TL1228: the role as viral entry inhibitor for fighting COVID-19

Murdocca, Michela; De Masi, Claudia; Latini, Andrea; Grilli, Giorgia; Sangiuolo, Federica Carla; Novelli, Giuseppe - 01 - Articolo su rivista

rivista: BIOLOGY DIRECT (London: BioMed Central) pp. - - issn: 1745-6150 - wos: WOS:001333841900001 (0) - scopus: 2-s2.0-85206589995 (0)

2108/364106 - 2024 - Cell electrokinetic fingerprint: a novel approach based on optically induced dielectrophoresis (ODEP) for in-flow identification of single cells

Filippi, Joanna; Casti, Paola; Antonelli, Gianni; Murdocca, Michela; Mencattini, Arianna; Corsi, Francesca; D'orazio, Michele; Curci, Giorgia; Ghibelli, Lina Cecilia; Sangiuolo, Federica Carla; Martinelli, Eugenio - 01 - Articolo su rivista

rivista: SMALL METHODS (Wiley Weinheim, Germany) pp. 1-18 - issn: 2366-9608 - wos: WOS:001210962900001 (3) - scopus: 2-s2.0-85191765403 (2)

2108/360384 - 2024 - A rare but fatal behçet variant: the hughes–stovin syndrome—successful case report and new evidence from literature review

Ascoli Marchetti, Andrea; Belvivere, Lorella; Oddi, Fabio Massimo; Pennetta, Federico Francisco; De Giorgi, Alice; Fazzini, Stefano; Morosetti, Daniele; Triggianese, Paola; D'antonio, Arianna; Coccia, Ilaria; Tesauro, Manfredi; Sangiuolo, Federica Carla; Ippoliti, Arnaldo - 01 - Articolo su rivista

rivista: AORTA (Stamford, Connecticut : Science International Corporation) pp. - - issn: 2325-4637 - wos: (0) - scopus: 2-s2.0-85189025256 (0)

2108/399923 - 2024 - When do the pathological signs become evident? Study of human mesenchymal stem cells in MDPL syndrome

Spitalieri, Paola; Guerrieri, Lara; Murdocca, Michela; Di Cesare, Silvia; Maccaroni, Serena; Pecorari, Rosalba; Candi, Eleonora; Colasuonno, Fiorella; Gori, Giulia; Novelli, Giuseppe; Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: AGING (Impact Journals LLC) pp. - - issn: 1945-4589 - wos: (0) - scopus: 2-s2.0-85214653069 (0)

2108/364105 - 2024 - Assembloid learning: opportunities and challenges for personalized approaches to brain functioning in health and disease

Mencattini, Arianna; Daprati, Elena; Della Morte Canosci, David; Sangiuolo, Federica Carla; Martinelli, Eugenio - 01 - Articolo su rivista

rivista: FRONTIERS IN ARTIFICIAL INTELLIGENCE ([Lausanne]: Frontiers Media S.A., [2018]-) pp. 1-6 - issn: 2624-8212 - wos: WOS:001215999400001 (0) - scopus: 2-s2.0-85192050100 (0)

2108/401486 - 2024 - Donor selection for allogeneic hematopoietic cell transplant in a patient with JAK2 V617F primary myelofibrosis and SH2B3/LNK germline variant

Ranucci, Giorgia; Page, Camilla; Marchionni, Enrica; Minotti, Chiara; Silvestrini, Giorgia; Gastaldi, Susanna; Cicconi, Laura; Biagi, Annalisa; Ferradini, Valentina; Attardi, Enrico; Novelli, Giuseppe; Sangiuolo, Federica Carla; Voso, Maria Teresa; Gurnari, Carmelo - 01 - Articolo su rivista

rivista: ANNALS OF HEMATOLOGY (Berlin; Heidelberg: Springer) pp. 5999-6002 - issn: 0939-5555 - wos: WOS:001378166100001 (0) - scopus: 2-s2.0-85211961764 (0)

2108/380543 - 2024 - A Dynamic and Effective Peptide-Based Strategy for Promptly Addressing Emerging SARS-CoV-2 Variants of Concern

Murdocca, Michela; Sangiuolo, Federica Carla; Novelli, Giuseppe - 01 - Articolo su rivista

rivista: PHARMACEUTICALS (Basel: MDPI, Molecular Diversity Preservation International, 2004-) pp. 1-18 - issn: 1424-8247 - wos: WOS:001277439900001 (2) - scopus: 2-s2.0-85199873893 (2)

2108/369503 - 2023 - The diagnostic value of the 12-Lead ECG in arrhythmogenic left ventricular cardiomyopathy

Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: JACC. CLINICAL ELECTROPHYSIOLOGY (New York : Elsevier) pp. 2615-2627 - issn: 2405-500X - wos: WOS:001147357600001 (10) - scopus: 2-s2.0-85173836729 (10)

2108/329083 - 2023 - DSP-related cardiomyopathy as a distinct clinical entity? Emerging evidence from an Italian cohort

Di Lorenzo, Francesca; Marchionni, Enrica; Ferradini, Valentina; Latini, Andrea; Novelli, Giuseppe; Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (Basel: MDPI Center) pp. - - issn: 1422-0067 - wos: WOS:000931901600001 (17) - scopus: 2-s2.0-85147894250 (19)

2108/321973 - 2023 - From cue to meaning: the involvement of POLD1 gene in DNA replication, repair and aging

Murdocca, Michela; Spitalieri, Paola; D'apice, Maria Rosaria; Novelli, Giuseppe; Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: MECHANISMS OF AGEING AND DEVELOPMENT (Elsevier Science Ireland Limited:PO Box 85, Limerick Ireland:011 353 61 709600, 011 353 61 61944, EMAIL: usinfo-f@elsevier.com, INTERNET: http://www.elsevier.com, Fax: 011 353 61 709114) pp. - - issn: 0047-6374 - wos: WOS:000942729200001 (5) - scopus: 2-s2.0-85147688202 (6)

2108/335523 - 2023 - COVID-19: S-Peptide RBD 484–508 Induces IFN-γ T-Cell Response in Naïve-to-Infection and Unvaccinated Subjects with Close Contact with SARS-CoV-2-Positive Patients

Murdocca, Michela; Giannini, Rosalinda; Bernardini, Sergio; Novelli, Giuseppe; Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: VIRUSES (Basel: MDPI) pp. 1-9 - issn: 1999-4915 - wos: WOS:001039670300001 (2) - scopus: 2-s2.0-85166013666 (3)

2108/321979 - 2023 - Nebulization of pharmacological solutions with an innovative medical device based on microvaporization

Casciani, Emanuele; Sangiuolo, Federica Carla; Novelli, Giuseppe - 01 - Articolo su rivista

rivista: HELIYON (Cell Press United Kingdom: Elsevier Limited) pp. - - issn: 2405-8440 - wos: WOS:000970516500001 (2) - scopus: 2-s2.0-85150383194 (1)

2108/321981 - 2023 - A likely pathogenic ACTG1 variant in a child showing partial phenotypic overlap with Baraitser-Winter syndrome

Ferradini, Valentina; Sangiuolo, Federica Carla; Novelli, Giuseppe - 01 - Articolo su rivista

rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. 1565-1569 - issn: 1552-4833 - wos: WOS:000935956400001 (2) - scopus: 2-s2.0-85148611787 (2)

2108/369504 - 2023 - From cue to meaning: The involvement of POLD1 gene in DNA replication, repair and aging

Murdocca, Michela; Spitalieri, Paola; D'apice, Maria Rosaria; Novelli, Giuseppe; Sangiuolo, Federica Carla - 01 - Articolo su rivista

2108/329084 - 2023 - Editorial: Reviews in induced pluripotent stem cells

Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY (Lausanne : Frontiers Media S.A., 2013-) pp. - - issn: 2296-634X - wos: WOS:000991557700001 (1) - scopus: 2-s2.0-85159929245 (1)

2108/321975 - 2022 - Indole-3-carbinol in vitro antiviral activity against SARS-Cov-2 virus and in vivo toxicity

Spitalieri, Paola; Murdocca, Michela; Biancolella, Michela; Sangiuolo, Federica Carla; Novelli, Giuseppe - 01 - Articolo su rivista

rivista: CELL DEATH DISCOVERY ([London]: Nature Publishing Group, 2015-) pp. 491- - issn: 2058-7716 - wos: WOS:000899624400002 (14) - scopus: 2-s2.0-85144273709 (16)

2108/329423 - 2022 - Mitochondrial Dysfunction in Mandibular Hypoplasia, Deafness and Progeroid Features with Concomitant Lipodystrophy (Mdpl) Patients

Murdocca, Michela; Spitalieri, Paola; Cappello, Angelo Maria; Colasuonno, Fiorella; Candi, Eleonora; D'apice, Maria Rosaria; Novelli, Giuseppe; Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: AGING (Impact Journals LLC) pp. 1651-1664 - issn: 1945-4589 - wos: (0) - scopus: 2-s2.0-85125700504 (4)

2108/311735 - 2022 - Two Different Therapeutic Approaches for SARS-CoV-2 in hiPSCs-Derived Lung Organoids

Spitalieri, Paola; Murdocca, Michela; Di Cesare, Silvia; Orlandi, Augusto; Botta, Annalisa; Sangiuolo, Federica Carla; Novelli, Giuseppe - 01 - Articolo su rivista

rivista: CELLS (Basel: mdpi-Molecular Diversity Preservation International) pp. 1-18 - issn: 2073-4409 - wos: WOS:000780993700001 (24) - scopus: 2-s2.0-85127614410 (25)

2108/307775 - 2022 - Machine learning phenomics (MLP) combining deep learning with time-lapse-microscopy for monitoring colorectal adenocarcinoma cells gene expression and drug-response

Murdocca, Michela; Mencattini, Arianna; Casti, Paola; Di Natale, Corrado; Sangiuolo, Federica Carla; Martinelli, Eugenio - 01 - Articolo su rivista

rivista: SCIENTIFIC REPORTS (London: Springer Nature London: Nature Publishing Group) pp. - - issn: 2045-2322 - wos: WOS:000798349300038 (24) - scopus: 2-s2.0-85130388537 (27)

2108/321976 - 2022 - Organoid factory: The recent role of the human induced pluripotent stem cells (hiPSCs) in precision medicine

Novelli, Giuseppe; Spitalieri, Paola; Murdocca, Michela; Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY (Lausanne : Frontiers Media S.A., 2013-) pp. 1059579- - issn: 2296-634X - wos: WOS:000921476100001 (20) - scopus: 2-s2.0-85146836039 (24)

2108/311730 - 2021 - A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and Premutated CNBP Alleles

Botta, Annalisa; Massa, Roberto; Sangiuolo, Federica Carla; D'apice, Maria Rosaria; Novelli, Giuseppe - 01 - Articolo su rivista

rivista: FRONTIERS IN GENETICS (Lausanne : Frontiers Research Foundation, 2010-) pp. 1-10 - issn: 1664-8021 - wos: WOS:000669469000001 (3) - scopus: 2-s2.0-85109106084 (4)

2108/276236 - 2021 - Variants in mhy7 gene cause arrhythmogenic cardiomyopathy

Ferradini, Valentina; Lanzillo, Chiara; Novelli, Giuseppe; Helmer Citterich, Manuela; Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: GENES (Basel : Molecular Diversity Preservation International) pp. - - issn: 2073-4425 - wos: WOS:000666548100001 (5) - scopus: 2-s2.0-85107115523 (6)

2108/285068 - 2021 - Genetic and epigenetic factors of Takotsubo syndrome: a systematic review

Ferradini, Valentina; Novelli, Giuseppe; Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (Basel: MDPI Center) pp. - - issn: 1422-0067 - wos: WOS:000699556400001 (20) - scopus: 2-s2.0-85114715034 (22)

2108/285074 - 2021 - LOX-1 and cancer: an indissoluble liaison

Murdocca, Michela; Pucci, Sabina; Novelli, Giuseppe; Di Natale, Corrado; Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: CANCER GENE THERAPY (Nature Publishing Group:Brunel Road Houndmills, Basingstoke RG21 6XS United Kingdom:011 44 20 78334000, EMAIL: institutions@natureny.com, INTERNET: http://www.nature.com, Fax: 011 44 20 78434640) pp. 1088-1098 - issn: 0929-1903 - wos: WOS:000605115600005 (81) - scopus: 2-s2.0-85099003569 (83)

2108/285060 - 2021 - Functional analysis of POLD1 p.ser605del variant: the aging phenotype of MDPL syndrome is associated with an impaired DNA repair capacity

Murdocca, Michela; Spitalieri, Paola; D'adamo, Monica; Sbraccia, Paolo; Novelli, Giuseppe; Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: AGING (Impact Journals LLC) pp. 4926-4945 - issn: 1945-4589 - wos: WOS:000624688500011 (13) - scopus: 2-s2.0-85101879941 (14)

2108/285064 - 2021 - Peptide platform as a powerful tool in the fight against COVID-19

Murdocca, Michela; Rossi, Antonello; Sangiuolo, Federica Carla; Novelli, Giuseppe - 01 - Articolo su rivista

rivista: VIRUSES (Basel: MDPI) pp. - - issn: 1999-4915 - wos: WOS:000689910800001 (13) - scopus: 2-s2.0-85113981614 (13)

2108/285072 - 2021 - Effects of simulated microgravity on wild type and Marfan hiPSCs-derived embryoid bodies

Spitalieri, Paola; Marini, Mario; Murdocca, Michela; Orlandi, Augusto; Novelli, Giuseppe; Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: CELLULAR AND MOLECULAR BIOENGINEERING (New York: Springer) pp. 613-626 - issn: 1865-5033 - wos: WOS:000658611400001 (6) - scopus: 2-s2.0-85107550716 (6)

2108/278253 - 2021 - Urine LOX-1 and volatilome as promising tools towards the early detection of renal cancer

Murdocca, Michela; Torino, Francesco; Pucci, Sabina; Capuano, Rosamaria; Greggi, Chiara; Polidoro, Chiara; Somma, Giuseppina; Catini, Alexandro; Paolesse, Roberto; Orlandi, Augusto; Mauriello, Alessandro; Roselli, Mario; Magrini, Andrea; Novelli, Giuseppe; Di Natale, Corrado; Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: CANCERS (Basel: MDPI) pp. - - issn: 2072-6694 - wos: WOS:000688959100001 (21) - scopus: 2-s2.0-85113737701 (23)

2108/285066 - 2021 - Natriuretic peptides are neuroprotective on in vitro models of PD and promote dopaminergic differentiation of hiPSCs-derived neurons via the Wnt/β-catenin signaling

Spitalieri, Paola; Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: CELL DEATH DISCOVERY ([London]: Nature Publishing Group, 2015-) pp. - - issn: 2058-7716 - wos: WOS:000713622100002 (9) - scopus: 2-s2.0-85118458553 (9)

2108/369525 - 2021 - Peptide Platform as a Powerful Tool in the Fight against COVID-19

Murdocca, Michela; Sangiuolo, Federica Carla; Novelli, Giuseppe - 01 - Articolo su rivista

rivista: VIRUSES (Basel: MDPI) pp. - - issn: 1999-4915 - wos: WOS:000689910800001 (0) - scopus: 2-s2.0-85113981614 (0)

2108/369524 - 2021 - Natriuretic peptides are neuroprotective on in vitro models of PD and promote dopaminergic differentiation of hiPSCs-derived neurons via the Wnt/β-catenin signaling

Giovannini, Daniela; Andreola, Federica; Spitalieri, Paola; Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: CELL DEATH DISCOVERY ([London]: Nature Publishing Group, 2015-) pp. - - issn: 2058-7716 - wos: WOS:000713622100002 (0) - scopus: 2-s2.0-85118458553 (0)

2108/369526 - 2020 - Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network

Novelli, Giuseppe; Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: THE ITALIAN JOURNAL OF PEDIATRICS (London : BioMed Central Ospedaletto : Pacini Editore) pp. - - issn: 1824-7288 - wos: WOS:000573613800002 (0) - scopus: 2-s2.0-85091051109 (0)

2108/226339 - 2020 - Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience

Ferradini, Valentina; Ruvolo, Giovanni; Novelli, Giuseppe; Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: CLINICA CHIMICA ACTA (msterdam Netherlands: Elsevier BV) pp. 154-164 - issn: 0009-8981 - wos: WOS:000512220100023 (15) - scopus: 2-s2.0-85076024634 (17)

2108/254750 - 2020 - Specific miRNA and gene deregulation characterize the increased angiogenic remodeling of thoracic aneurysmatic aortopathy in Marfan syndrome

Doldo, Elena; Pisano, Calogera; Falconi, Mattia; Sangiuolo, Federica Carla; Ferlosio, Amedeo; Ruvolo, Giovanni; Orlandi, Augusto - 01 - Articolo su rivista

rivista: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (Basel: MDPI Center) pp. - - issn: 1422-0067 - wos: WOS:000580701200001 (18) - scopus: 2-s2.0-85091144296 (18)

2108/256544 - 2020 - Carrier frequency of CFTR variants in the non-Caucasian populations by genome aggregation database (gnomAD)-based analysis

Novelli, Giuseppe; Sangiuolo, Federica Carla; Botta, Annalisa - 01 - Articolo su rivista

rivista: ANNALS OF HUMAN GENETICS (-MALDEN, USA: WILEY-BLACKWELL PUBLISHING, INC -Cambridge, United Kingdom: Cambridge University Press) pp. 463-468 - issn: 0003-4800 - wos: WOS:000536989000001 (10) - scopus: 2-s2.0-85085690984 (11)

2108/256557 - 2020 - Neurovascular manifestations in connective tissue diseases: The case of Marfan Syndrome

Ruvolo, Giovanni; Novelli, Giuseppe; Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: MECHANISMS OF AGEING AND DEVELOPMENT (Elsevier Science Ireland Limited:PO Box 85, Limerick Ireland:011 353 61 709600, 011 353 61 61944, EMAIL: usinfo-f@elsevier.com, INTERNET: http://www.elsevier.com, Fax: 011 353 61 709114) pp. 111346- - issn: 0047-6374 - wos: WOS:000579507600017 (6) - scopus: 2-s2.0-85090703652 (9)

2108/256547 - 2020 - An enormous Italian pedigree of Marfan syndrome with a novel mutation in the FBN1 gene

Novelli, Giuseppe; Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: CLINICAL CASE REPORTS (Oxford: John Wiley & Sons Inc, 2013-) pp. 1445-1451 - issn: 2050-0904 - wos: WOS:000537082100001 (1) - scopus: 2-s2.0-85085702377 (0)

2108/256551 - 2020 - Application of CRISPR/Cas9 to human-induced pluripotent stem cells: from gene editing to drug discovery

Spitalieri, Paola; Murdocca, Michela; Novelli, Giuseppe; Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: HUMAN GENOMICS (BioMed Central Ltd Part of Springer Nature. London: Henry Stewart Publications) pp. 25- - issn: 1479-7364 - wos: WOS:000545628000001 (61) - scopus: 2-s2.0-85087321314 (70)

2108/266323 - 2020 - Cutaneous and metabolic defects associated with nuclear abnormalities in a transgenic mouse model expressing R527H lamin A mutation causing mandibuloacral dysplasia type A (MADA) syndrome

De Dominicis, Andrea; Murdocca, Michela; Amati, Francesca; Botta, Annalisa; Sangiuolo, Federica Carla; Federici, Massimo; Novelli, Giuseppe - 01 - Articolo su rivista

rivista: ACTA MYOLOGICA (Gaetano Conte Academy for the study of striated muscle diseases. Napoli) pp. 320-335 - issn: 1128-2460 - wos: (0) - scopus: 2-s2.0-85100325503 (3)

2108/256559 - 2020 - Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network

Novelli, Giuseppe; Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: THE ITALIAN JOURNAL OF PEDIATRICS (London: BioMed Central Ltd. 2008- -Pacini Editore) pp. 130- - issn: 1720-8424 - wos: WOS:000573613800002 (17) - scopus: 2-s2.0-85091051109 (19)

2108/241071 - 2019 - Corrigendum : Targeted NGS platforms for genetic screening and gene discovery in primary immunodeficiencies (Frontiers in Immunology (2019) 10 (316) DOI: 10.3389/fimmu.2019.00316)

Cifaldi, Cristina; Barzaghi, Federica; Ferradini, Valentina; Petricone, Davide; Attardi, Enrico; Conti, Francesca; Palma, Paolo; Moschese, Viviana; Finocchi, Andrea; Rossi, Paolo; Sangiuolo, Federica Carla; Cancrini, Caterina; Di Matteo, Gigliola - 01 - Articolo su rivista

rivista: FRONTIERS IN IMMUNOLOGY (Lausanne : Frontiers Research Foundation, 2010-) pp. 1184- - issn: 1664-3224 - wos: WOS:000470172900002 (6) - scopus: 2-s2.0-85068463712 (9)

2108/282866 - 2019 - Generation of patient-specific hiPSCs model to study POLD1-related MDPL syndrome

Spitalieri, Paola; Murdocca, Michela; Campione, Elena; D'adamo, Monica; Sbraccia, Paolo; Novelli, Giuseppe; Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: EUROPEAN JOURNAL OF HUMAN GENETICS (-NATURE PUBLISHING GROUP, MACMILLAN BUILDING, 4 CRINAN ST, LONDON, ENGLAND, N1 9XW -S Karger AG:Allschwilerstrasse 10, CH-4009 Basel Switzerland:011 41 61 3061111, EMAIL: orders@karger.ch, INTERNET: http://www.karger.com, Fax: 011 41 61 3061234) pp. 549-550 - issn: 1018-4813 - wos: WOS:000489313104243 (0) - scopus: (0)

2108/226337 - 2019 - Genotypic categorization of loeys-dietz syndrome based on 24 novel families and literature data

Sangiuolo, Federica Carla; Novelli, Giuseppe; Ruvolo, Giovanni; Bertoldo, Fabio; Polisca, Patrizio; Mancino, Raffaele; Bollero, Patrizio; Cozza, Paola; Lagana', Giuseppina; Farsetti, Pasquale; De Maio, Fernando; Chini, Loredana; Floris, Roberto; De Stefano, Alessia; Chiariello, Luigi; Grego, Susanna - 01 - Articolo su rivista

rivista: GENES (Basel : Molecular Diversity Preservation International) pp. 764- - issn: 2073-4425 - wos: WOS:000498397100035 (24) - scopus: 2-s2.0-85072779903 (32)

2108/226335 - 2019 - Periodontal condition in growing subjects with Marfan Syndrome: A case-control study

Danesi, Carlotta; Mampieri, Gianluca; Sangiuolo, Federica Carla; Lagana', Giuseppina - 01 - Articolo su rivista

rivista: PEERJ (Corte Madera, CA : PeerJ Inc.) pp. e6606- - issn: 2167-8359 - wos: WOS:000465195300001 (5) - scopus: 2-s2.0-85067924966 (5)

2108/209140 - 2019 - Pro-oncogenic action of LOX-1 and its splice variant LOX-1Δ4 in breast cancer phenotypes

Pucci, Sabina; Polidoro, Chiara; Greggi, Chiara; Amati, Francesca; Murdocca, Michela; Biancolella, Michela; Orlandi, Augusto; Sangiuolo, Federica Carla; Novelli, Giuseppe - 01 - Articolo su rivista

rivista: CELL DEATH & DISEASE (Nature Group) pp. 53- - issn: 2041-4889 - wos: WOS:000472753500005 (26) - scopus: 2-s2.0-85061066478 (28)

2108/217623 - 2019 - Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies. Front Immunol. 2019 Apr 11;10:316. doi: 10.3389/fimmu.2019.00316. eCollection 2019. Erratum in: Front Immunol. 2019 May 31;10:1184.

Cifaldi, Cristina; Barzaghi, Federica; Ferradini, Valentina; Petricone, Davide; Attardi, Enrico; Conti, Francesca; Palma, Paolo; Moschese, Viviana; Chini, Loredana; Finocchi, Andrea; Rossi, Paolo; Sangiuolo, Federica Carla; Aiuti, Alessandro; Cancrini, Caterina; Di Matteo, Gigliola - 01 - Articolo su rivista

rivista: FRONTIERS IN IMMUNOLOGY (Lausanne : Frontiers Research Foundation, 2010-) pp. 1184- - issn: 1664-3224 - wos: WOS:000470172900002 (6) - scopus: 2-s2.0-85068463712 (9)

2108/217621 - 2019 - Targeted NGS platforms for genetic screening and gene discovery in primary immunodeficiencies

Cifaldi, Cristina; Barzaghi, Federica; Ferradini, Valentina; Petricone, Davide; Attardi, Enrico; Conti, Francesca; Di Cesare, Silvia; Forin, Davide Massimiliano; Palma, Paolo; Moschese, Viviana; Chini, Loredana; Finocchi, Andrea; Rossi, Paolo; Sangiuolo, Federica Carla; Aiuti, Alessandro; Cancrini, Caterina; Di Matteo, Gigliola - 01 - Articolo su rivista

rivista: FRONTIERS IN IMMUNOLOGY (Lausanne : Frontiers Research Foundation, 2010-) pp. 316- - issn: 1664-3224 - wos: WOS:000464277600001 (42) - scopus: 2-s2.0-85065452550 (40)

2108/225697 - 2019 - Targeting LOX-1 inhibits colorectal cancer metastasis in an animal model

Murdocca, Michela; Capuano, Rosamaria; Pucci, Sabina; Cicconi, Rosella; Polidoro, Chiara; Catini, Alexandro; Martinelli, Eugenio; Paolesse, Roberto; Orlandi, Augusto; Novelli, Giuseppe; Di Natale, Corrado; Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: FRONTIERS IN ONCOLOGY (Lausanne : Frontiers Editorial Office, 2011-) pp. - - issn: 2234-943X - wos: WOS:000487236300001 (27) - scopus: 2-s2.0-85073119401 (28)

2108/226325 - 2018 - A novel in-frame deletion in ZMPSTE24 is associated with autosomal recessive acrogeria (Gottron type) in an extended consanguineous family

Murdocca, Michela; Sangiuolo, Federica Carla; Novelli, Giuseppe; D'apice, Maria Rosaria - 01 - Articolo su rivista

rivista: CLINICAL DYSMORPHOLOGY (Lippincott, Williams & Wilkins:530 Walnut Street:Philadelphia, PA 19106:(800)638-3030, (301)223-2300, EMAIL: orders@lww.com, INTERNET: http://www.lww.com, Fax: (301)223-2320, (301)223-2320) pp. 88-90 - issn: 0962-8827 - wos: WOS:000435345800004 (3) - scopus: 2-s2.0-85048652607 (3)

2108/193664 - 2018 - Assessing individual risk for AMD with genetic counseling, family history, and genetic testing

Cascella, Raffaella; Manzo, Laura; De Felici, Cecilia; Gambardella, Stefano; Marsella, Luigi Tonino; Novelli, Giuseppe; Borgiani, Paola; Sangiuolo, Federica Carla; Cusumano, Andrea; Ricci, Federico; Giardina, Emiliano - 01 - Articolo su rivista

rivista: EYE (Basingstoke, United Kingdom: Nature Publishing Group) pp. 446-450 - issn: 0950-222X - wos: WOS:000424650300041 (13) - scopus: 2-s2.0-85041846410 (20)

2108/226329 - 2018 - AFM nano-mechanical study of the beating profile of hiPSC-derived cardiomyocytes beating bodies WT and DM1

Spitalieri, Paola; Murdocca, Michela; Botta, Annalisa; Novelli, Giuseppe; Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: JOURNAL OF MOLECULAR RECOGNITION ([London, UK : Heydon & Son] : John Wiley & Sons, Ltd., c1988-) pp. e2725- - issn: 1099-1352 - wos: WOS:000444465000001 (6) - scopus: 2-s2.0-85046747639 (9)

2108/226333 - 2018 - Characterization of MDPL Fibroblasts Carrying the Recurrent p.Ser605del Mutation in POLD1 Gene

D'apice, Maria Rosaria; Murdocca, Michela; Spitalieri, Paola; Sangiuolo, Federica Carla; Novelli, Giuseppe - 01 - Articolo su rivista

rivista: DNA AND CELL BIOLOGY (Larchmont, N.Y. : Mary Ann Liebert, 1990 -) pp. 1061-1067 - issn: 1557-7430 - wos: WOS:000449054300001 (18) - scopus: 2-s2.0-85058463378 (20)

2108/212259 - 2018 - Effects of micro-textured polystyrene substrates by compression molding on cell adhesion and proliferation

Bellisario, Denise; Quadrini, Fabrizio; Ibargoyen Santolim, Gustavo; Tedde, Giovanni Matteo; Caputo, Valerio; Spitalieri, Paola; Sangiuolo, Federica Carla; Santo, Loredana - 01 - Articolo su rivista

rivista: MATERIALE PLASTICE () pp. 502-506 - issn: 0025-5289 - wos: WOS:000454987400009 (1) - scopus: 2-s2.0-85060596600 (1)

2108/252033 - 2018 - EP34 ROLE OF SPECIALIZED CENTRE AND TEAMWORK IN THE DIAGNOSIS OF MARFAN SYNDROME AND PREVENTION OF ACUTE AORTIC DISSECTION

Bertoldo, Fabio; Pisano, Calogera; Nardi, Paolo; Sangiuolo, Federica Carla; Bollero, Patrizio; De Maio, Fernando; Mancino, Raffaele; Chiocchi, Marcello; De Stefano, Alessia; Cozza, Paola; Ruvolo, Giovanni; Novelli, Giuseppe - 01 - Articolo su rivista

rivista: JOURNAL OF CARDIOVASCULAR MEDICINE (Lippincott Williams & Wilkins) pp. e48-e49 - issn: 1558-2027 - wos: (0) - scopus: (0)

2108/210816 - 2018 - Volatile compounds emission from teratogenic human pluripotent stem cells observed during their differentiation in vivo

Capuano, Rosamaria; Spitalieri, Paola; Catini, Alexandro; Domakoski, Ana Carolina; Martinelli, Eugenio; Orlandi, Augusto; Cicconi, Rosella; Paolesse, Roberto; Novelli, Giuseppe; Di Natale, Corrado; Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: SCIENTIFIC REPORTS (London: Springer Nature London: Nature Publishing Group) pp. - - issn: 2045-2322 - wos: WOS:000439421600024 (9) - scopus: 2-s2.0-85050640583 (10)

2108/211139 - 2018 - Generation and Neuronal Differentiation of hiPSCs From Patients With Myotonic Dystrophy Type 2

Spitalieri, Paola; Murdocca, Michela; Campione, Elena; Massa, Roberto; Novelli, Giuseppe; Sangiuolo, Federica Carla; Botta, Annalisa - 01 - Articolo su rivista

rivista: FRONTIERS IN PHYSIOLOGY (Lausanne: Frontiers Research Foundation, 2010-) pp. 967- - issn: 1664-042X - wos: WOS:000440033300001 (3) - scopus: 2-s2.0-85065959333 (6)

2108/211427 - 2018 - Modelling the pathogenesis of Myotonic Dystrophy type 1 cardiac phenotype through human iPSC-derived cardiomyocytes

Spitalieri, Paola; Caioli, Silvia; Murdocca, Michela; Pucci, Sabina; Botta, Annalisa; Novelli, Giuseppe; Zona, Cristina; Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY (Elsevier Science Limited:Oxford Fulfillment Center, PO Box 800, Kidlington Oxford OX5 1DX United Kingdom:011 44 1865 843000, 011 44 1865 843699, EMAIL: asianfo@elsevier.com, tcb@elsevier.co.UK, INTERNET: http://www.elsevier.com, http://www.elsevier.com/locate/shpsa/, Fax: 011 44 1865 843010) pp. 95-109 - issn: 0022-2828 - wos: WOS:000432499700008 (20) - scopus: 2-s2.0-85044483318 (23)

2108/226323 - 2018 - Uncovering genetic and non-genetic biomarkers specific for exudative age-related macular degeneration: Significant association of twelve variants

Cascella, Raffaella; Manzo, Laura; De Felici, Cecilia; Caputo, Valerio; Cusumano, Andrea; Mauriello, Silvestro; Marsella, Luigi Tonino; Ciccacci, Cinzia; Borgiani, Paola; Sangiuolo, Federica Carla; Novelli, Giuseppe; Ricci, Federico; Giardina, Emiliano - 01 - Articolo su rivista

rivista: ONCOTARGET (Albany, N.Y. : Impact Journals) pp. 7812-7821 - issn: 1949-2553 - wos: (0) - scopus: 2-s2.0-85041185162 (37)

2108/226331 - 2018 - Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome

Sangiuolo, Federica Carla; Novelli, Giuseppe - 01 - Articolo su rivista

rivista: EUROPEAN JOURNAL OF HUMAN GENETICS (First or current publisher Basel ; New York : Karger, [1992]- Intervening publisher [Houndmills, Basingstoke, Hampshire, UK] : Stockton Press Intervening publisher [London?] : MacMillan Publishers Ltd. Current or last publisher [London] : Nature Publishing Group) pp. 1266-1271 - issn: 1476-5438 - wos: WOS:000443154200005 (13) - scopus: 2-s2.0-85048351764 (14)

2108/203801 - 2017 - KIF3A and IL-4 are disease-specific biomarkers for psoriatic arthritis susceptibility

Cascella, Raffaella; Manzo, Laura; Potenza, Saverio; Sangiuolo, Federica Carla; Novelli, Giuseppe; Orlandi, Augusto; Giardina, Emiliano - 01 - Articolo su rivista

rivista: ONCOTARGET (Albany, N.Y. : Impact Journals) pp. - - issn: 1949-2553 - wos: WOS:000414937900029 (13) - scopus: 2-s2.0-85033379435 (14)

2108/244432 - 2017 - Identification of stem cells differentiation steps

Capuano, Rosamaria; Spitalieri, Paola; Catini, Alexandro; Paolesse, Roberto; Martinelli, Eugenio; Novelli, Giuseppe; Sangiuolo, Federica Carla; Di Natale, Corrado - 02 - Intervento a convegno

congresso: ISOCS/IEEE International Symposium on Olfaction and Electronic Nose, ISOEN 2017 ()

libro: ISOEN 2017 - ISOCS/IEEE International Symposium on Olfaction and Electronic Nose: Proceedings - (978-1-5090-2392-9)

2108/192391 - 2017 - The Glu331del mutation in the CYP17A1 gene causes atypical congenital adrenal hyperplasia in a 46,XX female

Sangiuolo, Federica Carla; Federici, Luca; Moretti, Costanzo - 01 - Articolo su rivista

rivista: GYNECOLOGICAL ENDOCRINOLOGY (Parthenon Publishing:Richmond House, White Cross, South Road LA1 4QX United Kingdom:011 44 1524 585700, EMAIL: journals_parthpub@crcpress.com, INTERNET: http://www.parthpub.com, Fax: 011 44 1524 66882) pp. 918-922 - issn: 0951-3590 - wos: WOS:000415656400004 (1) - scopus: 2-s2.0-85020727179 (1)

2108/169501 - 2017 - Identification and characterization of 5' CCG interruptions in complex DMPK expanded alleles

Botta, Annalisa; Massa, Roberto; Sangiuolo, Federica Carla; Novelli, Giuseppe - 01 - Articolo su rivista

rivista: EUROPEAN JOURNAL OF HUMAN GENETICS (-NATURE PUBLISHING GROUP, MACMILLAN BUILDING, 4 CRINAN ST, LONDON, ENGLAND, N1 9XW -S Karger AG:Allschwilerstrasse 10, CH-4009 Basel Switzerland:011 41 61 3061111, EMAIL: orders@karger.ch, INTERNET: http://www.karger.com, Fax: 011 41 61 3061234) pp. 257-261 - issn: 1018-4813 - wos: WOS:000394122900021 (33) - scopus: 2-s2.0-84996844847 (35)

2108/206395 - 2017 - Coexistence of Two Novel Mutations in CDKN2A and PMS1 Genes in a Single Patient Identifies a New and Severe Cancer Predisposition Syndrome

Biancolella, Michela; Testa, Barbara; Novelli, Giuseppe; Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: ONCOMEDICINE (Sydney NSW.: Ivyspring International) pp. 88-92 - issn: 2206-6349 - wos: (0) - scopus: (0)

2108/182106 - 2017 - Genotype-phenotype correlation of F484L mutation in three Italian families with Thomsen myotonia

Ferradini, Valentina; Novelli, Giuseppe; Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: MUSCLE & NERVE (Hoboken, NJ : John Wiley & Sons) pp. E24-E25 - issn: 0148-639X - wos: WOS:000404041600001 (2) - scopus: 2-s2.0-85017376259 (1)

2108/190144 - 2017 - Early hippocampal i-LTP and LOX-1 overexpression induced by anoxia: A potential role in neurodegeneration in NPC mouse model

Murdocca, Michela; Pucci, Sabina; Zaratti, Anna; Greggi, Chiara; Sangiuolo, Federica Carla; Tancredi, Virginia; Frank, Claudio; D'arcangelo, Giovanna - 01 - Articolo su rivista

rivista: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (Basel: MDPI Center) pp. - - issn: 1422-0067 - wos: WOS:000408746800112 (7) - scopus: 2-s2.0-85021907826 (7)

2108/180110 - 2017 - Targeted Next Generation Sequencing in patients with Myotonia Congenita

Ferradini, Valentina; D'apice, Maria Rosaria; Botta, Annalisa; Novelli, Giuseppe; Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: CLINICA CHIMICA ACTA (msterdam Netherlands: Elsevier BV) pp. 1-7 - issn: 0009-8981 - wos: WOS:000405883100001 (9) - scopus: 2-s2.0-85018634249 (12)

2108/182100 - 2017 - A preliminary analysis of volatile metabolites of human induced pluripotent stem cells along the in vitro differentiation

Capuano, Rosamaria; Spitalieri, Paola; Domakoski, Ana Carolina; Catini, Alexandro; Paolesse, Roberto; Martinelli, Eugenio; Novelli, Giuseppe; Sangiuolo, Federica Carla; Di Natale, Corrado - 01 - Articolo su rivista

rivista: SCIENTIFIC REPORTS (London: Springer Nature London: Nature Publishing Group) pp. 1621- - issn: 2045-2322 - wos: WOS:000400870500011 (15) - scopus: 2-s2.0-85019150484 (15)

2108/163040 - 2016 - SMA human iPSC-derived motor neurons show perturbed differentiation and reduced miR-335-5P expression

Murdocca, Michela; Ciafre', Silvia Anna; Spitalieri, Paola; Novelli, Giuseppe; Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (Basel: MDPI Center) pp. 1231- - issn: 1422-0067 - wos: WOS:000382337900045 (20) - scopus: 2-s2.0-84980344008 (20)

2108/166252 - 2016 - Reliable and versatile immortal muscle cell models from healthy and myotonic dystrophy type 1 primary human myoblasts

Giardina, Emiliano; Sangiuolo, Federica Carla; Botta, Annalisa - 01 - Articolo su rivista

rivista: EXPERIMENTAL CELL RESEARCH (Academic Press Incorporated:6277 Sea Harbor Drive:Orlando, FL 32887:(800)543-9534, (407)345-4100, EMAIL: ap@acad.com, INTERNET: http://www.idealibrary.com, Fax: (407)352-3445) pp. 39-51 - issn: 0014-4827 - wos: WOS:000372766600005 (25) - scopus: 2-s2.0-84962798228 (23)

2108/134715 - 2016 - Two molecular assays for the rapid and inexpensive detection of GJB2 and GJB6 mutations

Borgiani, Paola; Sangiuolo, Federica Carla; Novelli, Giuseppe; Giardina, Emiliano - 01 - Articolo su rivista

rivista: ELECTROPHORESIS (Weinheim: Wiley-VCH-Verl..) pp. 860-864 - issn: 1522-2683 - wos: WOS:000372947700022 (2) - scopus: 2-s2.0-84961158425 (2)

2108/119711 - 2016 - Mutation spectrum of the MTM1 gene in XLMTM patients: 10 years of experience in prenatal and postnatal diagnosis

Novelli, Giuseppe; Sangiuolo, Federica Carla; D'apice, Maria Rosaria - 01 - Articolo su rivista

rivista: CLINICAL GENETICS (Blackwell Munksgaard:PO Box 2148, Periodicals Department, DK-1016 Copenhagen K Denmark:011 45 33 755913, EMAIL: agentservices@oxon.blackwellpublishing.com, INTERNET: http://www.blackwellmunksgaard.com, Fax: 011 45 77 333377) pp. 93-98 - issn: 0009-9163 - wos: WOS:000368346400014 (8) - scopus: 2-s2.0-84955202448 (9)

2108/119718 - 2016 - Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism

Frontali, Marina; Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: FAMILIAL CANCER (Kluwer Academic Publishers, Dordrecht ; Boston) pp. 123-126 - issn: 1389-9600 - wos: WOS:000367594700014 (18) - scopus: 2-s2.0-84952861528 (17)

2108/119698 - 2016 - Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1

Sangiuolo, Federica Carla; Novelli, Giuseppe; Fabbri, Andrea - 01 - Articolo su rivista

rivista: JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION (Sprimger Milano: Kurtis) pp. 227-233 - issn: 1720-8386 - wos: WOS:000368115300012 (14) - scopus: 2-s2.0-84955292935 (19)

2108/163054 - 2016 - Next generation sequencing and linkage analysis for the molecular diagnosis of a novel overlapping syndrome characterized by hypertrophic cardiomyopathy and typical electrical instability of brugada syndrome

Giardina, Emiliano; Helmer Citterich, Manuela; Romeo, Francesco; Novelli, Giuseppe; Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: CIRCULATION JOURNAL (Tokyo: Japanese Circulation Society Kyoto,Japan: Japanese Circulation Society-Nihon Junkanki Gakkai) pp. 938-949 - issn: 1346-9843 - wos: WOS:000373401900025 (20) - scopus: 2-s2.0-84961659733 (23)

2108/163047 - 2016 - The Gene targeting approach of small fragment homologous replacement (SFHR) alters the expression patterns of DNA repair and cell cycle control genes

Novelli, Giuseppe; Sangiuolo, Federica Carla; Lucarelli, Marco - 01 - Articolo su rivista

rivista: MOLECULAR THERAPY NUCLEIC ACIDS () pp. e304- - issn: 2162-2531 - wos: WOS:000374466900003 (1) - scopus: 2-s2.0-84963960024 (1)

2108/159870 - 2016 - The lectin-like oxidized LDL receptor-1: A new potential molecular target in colorectal cancer

Murdocca, Michela; Pucci, Sabina; Biocca, Silvia; Capuano, Rosamaria; Paolesse, Roberto; Orlandi, Augusto; Di Natale, Corrado; Novelli, Giuseppe; Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: ONCOTARGET (Albany, N.Y. : Impact Journals) pp. 14765-14780 - issn: 1949-2553 - wos: WOS:000375687200111 (45) - scopus: 2-s2.0-84962859993 (48)

2108/166453 - 2016 - Pharmacogenomics of multifactorial diseases: A focus on psoriatic arthritis

Cascella, Raffaella; Borgiani, Paola; Sangiuolo, Federica Carla; Novelli, Giuseppe; Giardina, Emiliano - 01 - Articolo su rivista

rivista: PHARMACOGENOMICS (Ashley Publications Limited:Unitec House, Third Floor, 2 Albert Place, Finchley Central, London N3 1QB United Kingdom:011 44 208 3433883, EMAIL: jdrake@ashley-pub.com, INTERNET: http://www.ashley-pub.com, Fax: 011 44 208 3432313) pp. 943-951 - issn: 1462-2416 - wos: WOS:000378431200011 (13) - scopus: 2-s2.0-84976485027 (15)

2108/166455 - 2016 - Human induced pluripotent stem cells for monogenic disease modelling and therapy

Spitalieri, Paola; Murdocca, Michela; Novelli, Giuseppe; Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: WORLD JOURNAL OF STEM CELLS (Hong Kong ; Beijing : Baishideng Publishing) pp. 118-135 - issn: 1948-0210 - wos: WOS:000405386800001 (23) - scopus: 2-s2.0-85005963253 (27)

2108/119217 - 2015 - Generation of human induced pluripotent stem cells from extraembryonic tissues of fetuses affected by monogenic diseases

Botta, Annalisa; Murdocca, Michela; Orlandi, Augusto; Giardina, Emiliano; Novelli, Giuseppe; Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: CELLULAR REPROGRAMMING (New Rochelle, NY : Mary Ann Liebert, Inc.) pp. 275-287 - issn: 2152-4971 - wos: WOS:000359621100005 (18) - scopus: 2-s2.0-84938693781 (19)

2108/166693 - 2015 - Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: A novel recognizable microdeletion syndrome?

D'apice, Maria Rosaria; Biancolella, Michela; Minella, Daniela; Testa, Barbara; Palmieri, Giampiero; Calabrese, Emma; Biancone, Livia; Frontali, Marina; Sangiuolo, Federica Carla; Novelli, Giuseppe; Pallone, Francesco - 01 - Articolo su rivista

rivista: BMC MEDICAL GENETICS (London: BioMed Central, 2000-) pp. 1- - issn: 1471-2350 - wos: WOS:000352591300001 (2) - scopus: 2-s2.0-84926682547 (2)

2108/110667 - 2015 - Application of Next Generation Sequencing for personalized medicine for sudden cardiac death

Sangiuolo, Federica Carla; Novelli, Giuseppe; Amati, Francesca - 01 - Articolo su rivista

rivista: FRONTIERS IN GENETICS (Lausanne : Frontiers Research Foundation, 2010-) pp. - - issn: 1664-8021 - wos: WOS:000352763300001 (20) - scopus: 2-s2.0-84923537409 (21)

2108/119701 - 2015 - Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy

D'apice, Maria Rosaria; Sangiuolo, Federica Carla; Novelli, Giuseppe; Massa, Roberto - 01 - Articolo su rivista

rivista: ACTA NEUROPATHOLOGICA COMMUNICATIONS (London : BioMed Central) pp. 44- - issn: 2051-5960 - wos: WOS:000360246900001 (35) - scopus: 2-s2.0-85018193599 (41)

2108/119703 - 2015 - Comparative analysis between saliva and buccal swabs as source of DNA: Lesson from HLA-B∗57:01 testing

Cascella, Raffaella; Stocchi, Laura; Borgiani, Paola; Sangiuolo, Federica Carla; Novelli, Giuseppe; Zampatti, Stefania; Giardina, Emiliano - 01 - Articolo su rivista

rivista: PHARMACOGENOMICS (Ashley Publications Limited:Unitec House, Third Floor, 2 Albert Place, Finchley Central, London N3 1QB United Kingdom:011 44 208 3433883, EMAIL: jdrake@ashley-pub.com, INTERNET: http://www.ashley-pub.com, Fax: 011 44 208 3432313) pp. 1039-1046 - issn: 1462-2416 - wos: WOS:000361140600002 (15) - scopus: 2-s2.0-84941633532 (19)

2108/119706 - 2015 - Cerebral cavernous malformations associated to meningioma: High penetrance in a novel family mutated in the PDCD10 gene

Garaci, Francesco Giuseppe; Marziali, Simone; Pasquarelli, Roberto; Sangiuolo, Federica Carla; Floris, Roberto; Novelli, Giuseppe - 01 - Articolo su rivista

rivista: THE NEURORADIOLOGY JOURNAL (SAGE Publications Bologna: Centauro) pp. 289-293 - issn: 1971-4009 - wos: WOS:000359430200010 (8) - scopus: 2-s2.0-84945352521 (13)

2108/118157 - 2015 - A perturbed MicroRNA expression pattern characterizes embryonic neural stem cells derived from a severe mouse model of spinal muscular atrophy (SMA)

Ciafre', Silvia Anna; Murdocca, Michela; Farace, Maria Giulia; Novelli, Giuseppe; Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (Basel: MDPI Center) pp. 18312-18327 - issn: 1422-0067 - wos: WOS:000366826100085 (21) - scopus: 2-s2.0-84938852273 (22)

2108/119708 - 2015 - FLG (filaggrin) null mutations and sunlight exposure: Evidence of a correlation

Cascella, Raffaella; Manzo, Laura; Marsella, Luigi Tonino; Borgiani, Paola; Sangiuolo, Federica Carla; Novelli, Giuseppe; Giardina, Emiliano - 01 - Articolo su rivista

rivista: JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY (Mosby Year Book Incorporated:6277 Sea Harbor Drive:Orlando, FL 32887:(800)654-2452, (407)345-4000, EMAIL: hhspcs@harcourt.com, INTERNET: http://www.mosby.com, Fax: (407)363-9661, (314)432-1380) pp. 528-529 - issn: 0190-9622 - wos: WOS:000360066500045 (14) - scopus: 2-s2.0-84939424588 (15)

2108/85894 - 2014 - Transabdominal coelocentesis as early source of fetal DNA for chromosomal and molecular diagnosis

Pietropolli, Adalgisa; Zampatti, Stefania; Spitalieri, Paola; Novelli, Giuseppe; Sangiuolo, Federica Carla; Piccione, Emilio; Giardina, Emiliano - 01 - Articolo su rivista

rivista: THE JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE (London: Informa UK Limited trading as Taylor & Francis Group London: Taylor & Francis, 2002- United Kingdom: Parthenon Publishing) pp. 1656-1660 - issn: 1476-7058 - wos: WOS:000343031000009 (2) - scopus: 2-s2.0-84907841712 (2)

2108/106227 - 2014 - HFE gene variants and iron-induced oxygen radical generation in idiopathic pulmonary fibrosis

Sangiuolo, Federica Carla; Puxeddu, Ermanno; Longo, Giuseppe; Di Pierro, Donato; Pallante, Marco; Sergiacomi, Gianluigi; Simonetti, Giovanni Maria Egisto; Orlandi, Augusto; Magrini, Alberto; Amicosante, Massimo; Saltini, Cesare - 01 - Articolo su rivista

rivista: EUROPEAN RESPIRATORY JOURNAL (Blackwell Munksgaard:PO Box 2148, Periodicals Department, DK-1016 Copenhagen K Denmark:011 45 33 755913, EMAIL: agentservices@oxon.blackwellpublishing.com, INTERNET: http://www.blackwellmunksgaard.com, Fax: 011 45 77 333377) pp. - - issn: 0903-1936 - wos: WOS:000349509700025 (30) - scopus: 2-s2.0-84950170987 (31)

2108/98547 - 2014 - Small Fragment Homologous Replacement (SFHR): sequence-specific modification of genomic DNA in eukaryotic cells by small DNA fragments

Sangiuolo, Federica Carla - 03 - Contributo in libro

libro: Methods in Molecular Biology, Gene Correction, methods and protocols - ()

2108/85887 - 2014 - Common polymorphisms in MIR146a, MIR128a and MIR27a genes contribute to neuropathy susceptibility in type 2 diabetes

Ciccacci, Cinzia; D'amato, Cinzia; Cacciotti, Laura; Novelli, Giuseppe; Sangiuolo, Federica Carla; Marfia, Girolama Alessandra; Borgiani, Paola; Spallone, Vincenza - 01 - Articolo su rivista

rivista: ACTA DIABETOLOGICA (Springer Verlag Germany:Tiergartenstrasse 17, D 69121 Heidelberg Germany:011 49 6221 3450, EMAIL: g.braun@springer.de, INTERNET: http://www.springer.de, Fax: 011 49 6221 345229) pp. 663-671 - issn: 0940-5429 - wos: WOS:000340507200019 (73) - scopus: 2-s2.0-84905923828 (79)

2108/79171 - 2013 - MicroRNA genetic variations: association with type 2 diabetes

Novelli, Giuseppe; Sangiuolo, Federica Carla; Spallone, Vincenza; Borgiani, Paola - 01 - Articolo su rivista

rivista: ACTA DIABETOLOGICA (Springer Verlag Germany:Tiergartenstrasse 17, D 69121 Heidelberg Germany:011 49 6221 3450, EMAIL: g.braun@springer.de, INTERNET: http://www.springer.de, Fax: 011 49 6221 345229) pp. 867-872 - issn: 0940-5429 - wos: WOS:000327535500006 (61) - scopus: 2-s2.0-84890569362 (64)

2108/88499 - 2013 - Human embryonic stem cells recover in vivo acute lung inflammation bleomycin-induced

Sangiuolo, Federica Carla; Spitalieri, Paola; Orlandi, Augusto; Puxeddu, Ermanno - 01 - Articolo su rivista

rivista: SARCOIDOSIS VASCULITIS AND DIFFUSE LUNG DISEASES (-Cormano: Casa Editrice Mattioli. -PCA Publishing Commun Advert:Via Clerici 12, 20032 Brusuglio Cormano Italy:011 39 2 66300802, Fax: 011 39 2 6151239) pp. 177-185 - issn: 1124-0490 - wos: WOS:000333811600003 (4) - scopus: 2-s2.0-84911444778 (3)

2108/98620 - 2013 - Human embryonic stem cells recover in vivo acute lung inflammation bleomycin-induced

Sangiuolo, Federica Carla; Orlandi, Augusto; Puxeddu, Ermanno - 01 - Articolo su rivista

2108/166981 - 2013 - TCF7L2 gene polymorphisms and type 2 diabetes: Association with diabetic retinopathy and cardiovascular autonomic neuropathy

Ciccacci, Cinzia; Cacciotti, Laura; Morganti, Roberto; D'amato, Cinzia; Novelli, Giuseppe; Sangiuolo, Federica Carla; Spallone, Vincenza; Borgiani, Paola - 01 - Articolo su rivista

rivista: ACTA DIABETOLOGICA (Berlin; Heidelberg: Springer) pp. 789-799 - issn: 1432-5233 - wos: WOS:000325026900018 (55) - scopus: 2-s2.0-84885435361 (60)

2108/77614 - 2012 - Small fragment homologous replacement: evaluation of factors influencing modification efficiency in an eukaryotic assay system

Novelli, Giuseppe; Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: PLOS ONE (San Francisco, CA : Public Library of Science) pp. e30851-e30851 - issn: 1932-6203 - wos: WOS:000302796200021 (6) - scopus: 2-s2.0-84857126264 (5)

2108/77626 - 2012 - IPLEX administration improves motor neuron survival and ameliorates motor functions in a severe mouse model of spinal muscular atrophy

Murdocca, Michela; Novelli, Giuseppe; Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: MOLECULAR MEDICINE (North Shore Long Island Jewish Research Institute:350 Community Drive:Manhasset, NY 11030:(516)562-9406, EMAIL: odavis@nshs.edu) pp. 1076-1085 - issn: 1076-1551 - wos: WOS:000309946500004 (27) - scopus: 2-s2.0-84866759473 (28)

2108/78033 - 2012 - 3'-UTR OLR1/LOX-1 gene polymorphism and endothelial dysfunction: molecular and vascular data in never-treated hypertensive patients

Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: INTERNAL AND EMERGENCY MEDICINE (Milano : Springer Verlag Italia Roma : CEPI) pp. - - issn: 1828-0447 - wos: WOS:000336422300004 (3) - scopus: 2-s2.0-84897025203 (3)

2108/79172 - 2011 - Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome.

Sangiuolo, Federica Carla; Novelli, Giuseppe - 01 - Articolo su rivista

rivista: BMC MEDICAL GENETICS (London: BioMed Central, 2000-) pp. - - issn: 1471-2350 - wos: WOS:000296359700001 (30) - scopus: 2-s2.0-80053341453 (34)

2108/134719 - 2011 - Potential clinical applications of embryonic stem cells

Novelli, Giuseppe; Sangiuolo, Federica Carla - 03 - Contributo in libro

libro: Embryonic stem cells: recent advances in pluripotent stem cell-based regenerative medicine - (978-953-307-198-5)

2108/134717 - 2011 - Gene therapy

Spitalieri, Paola; Novelli, Giuseppe; Sangiuolo, Federica Carla - 03 - Contributo in libro

libro: Biotechnology in surgery - (978-88-470-1658-3)

2108/53011 - 2011 - Rescue of murine silica-induced lung injury and fibrosis by human embryonic stem cells

Spitalieri, Paola; Orlandi, Augusto; Giardina, Emiliano; Novelli, Giuseppe; Saltini, Cesare; Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: EUROPEAN RESPIRATORY JOURNAL (Blackwell Munksgaard:PO Box 2148, Periodicals Department, DK-1016 Copenhagen K Denmark:011 45 33 755913, EMAIL: agentservices@oxon.blackwellpublishing.com, INTERNET: http://www.blackwellmunksgaard.com, Fax: 011 45 77 333377) pp. 446-457 - issn: 0903-1936 - wos: WOS:000300411400031 (39) - scopus: 2-s2.0-84856712649 (46)

2108/134723 - 2011 - lung epithelium

Spitalieri, Paola; Sangiuolo, Federica Carla - 03 - Contributo in libro

libro: Biotechnology in surgery - ()

2108/12150 - 2010 - Novel CLCN1 mutation in carbamazepine-responsive myotonia congenita

Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: PEDIATRIC NEUROLOGY (Elsevier Science Incorporated / NY Journals:Madison Square Station, PO Box 882:New York, NY 10159:(212)633-3730, EMAIL: usinfo-f@elsevier.com, INTERNET: http://www.elsevier.com, Fax: (212)633-3680) pp. 365-368 - issn: 0887-8994 - wos: WOS:000277325000013 (13) - scopus: 2-s2.0-77950610961 (15)

2108/11028 - 2009 - Prenatal diagnosis of Cockayne syndrome type A based on the identification of two novel mutations in the ERCC8 gene

Botta, Annalisa; Sangiuolo, Federica Carla; Novelli, Giuseppe - 01 - Articolo su rivista

rivista: GENETIC TESTING AND MOLECULAR BIOMARKERS (New Rochelle, NY : Mary Ann Liebert, Inc.) pp. 127-131 - issn: 1945-0265 - wos: WOS:000265065900021 (11) - scopus: 2-s2.0-67049133473 (10)

2108/29394 - 2009 - A pilot beta-thalassaemia screening program in the Albanian population for a health planning program

Biancolella, Michela; Di Daniele, Nicola; Sangiuolo, Federica Carla; Novelli, Giuseppe - 01 - Articolo su rivista

rivista: ACTA HAEMATOLOGICA (S Karger AG:Allschwilerstrasse 10, CH-4009 Basel Switzerland:011 41 61 3061111, EMAIL: orders@karger.ch, INTERNET: http://www.karger.com, Fax: 011 41 61 3061234) pp. 234-238 - issn: 0001-5792 - wos: WOS:000267649800011 (2) - scopus: 2-s2.0-67649183257 (4)

2108/41961 - 2009 - Identification of multipotent cytotrophoblast cells from human first trimester chorionic villi

Spitalieri, Paola; Pietropolli, Adalgisa; Dolci, Susanna; Klinger, Francesca Gioia; Giardina, Emiliano; Di Cesare, Silvia; Lauro, Davide; Novelli, Giuseppe; De Felici, Massimo; Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: CLONING AND STEM CELLS (Larchmont, NY : Mary Ann Liebert, [2001-) pp. 535-556 - issn: 1536-2302 - wos: WOS:000272955400006 (24) - scopus: 2-s2.0-73849092888 (26)

2108/12152 - 2009 - Recessive congenital myotonia resulting from maternal isodisomy of chromosome 7: a case report

Novelli, Giuseppe; Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: CASES JOURNAL (London : BioMed Central [London] : Case Reports in association with BioMed Central) pp. 7111- - issn: 1757-1626 - wos: (0) - scopus: 2-s2.0-77953443613 (2)

2108/106698 - 2008 - Epidemiology and a novel procedure for large scale analysis of CFTR rearrangements in classic and atypical CF patients: A multicentric Italian study.

Sangiuolo, Federica Carla; Novelli, Giuseppe - 01 - Articolo su rivista

rivista: JOURNAL OF CYSTIC FIBROSIS (Elsevier Science Limited:Oxford Fulfillment Center, PO Box 800, Kidlington Oxford OX5 1DX United Kingdom:011 44 1865 843000, 011 44 1865 843699, EMAIL: asianfo@elsevier.com, tcb@elsevier.co.UK, INTERNET: http://www.elsevier.com, http://www.elsevier.com/locate/shpsa/, Fax: 011 44 1865 843010) pp. 347-351 - issn: 1569-1993 - wos: WOS:000259887500002 (53) - scopus: 2-s2.0-51349128304 (53)

2108/22740 - 2008 - Cftr gene targeting in mouse embryonic stem cells mediated by Small Fragment Homologous Replacement (SFHR)

Sangiuolo, Federica Carla; De Felici, Massimo; Novelli, Giuseppe - 01 - Articolo su rivista

rivista: FRONTIERS IN BIOSCIENCE (Frontiers in Bioscience:PO Box 160:Albertson, NY 11507:(516)484-2831, (516)484-0813, EMAIL: fbsadmin@bioscience.org, INTERNET: http://www.bioscience.org, Fax: (516)484-2831) pp. 2989-2999 - issn: 1093-9946 - wos: WOS:000255775700248 (18) - scopus: 2-s2.0-38449096253 (21)

2108/107218 - 2008 - Diagnostic CFTR mutation analysis

Novelli, Giuseppe; Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: EXPERT OPINION ON MEDICAL DIAGNOSTICS (London : Informa Healthcare) pp. 191-205 - issn: 1753-0059 - wos: (0) - scopus: 2-s2.0-77953370863 (2)

2108/119438 - 2006 - Therapeutic strategies for the treatment of Spinal Muscular Atrophy (SMA) disease

Sangiuolo, Federica Carla; Botta, Annalisa; Filareto, Antonio; Spitalieri, Paola; Novelli, Giuseppe - 01 - Articolo su rivista

rivista: CURRENT GENOMICS (Bentham Science Publishers BV:PO Box 7917, Exec Ste Y 26, Saif Zone Sharjah Uae:011 971 6 5571132, EMAIL: benthams@emirates.net.ae, INTERNET: http://www.bentham.org, Fax: 011 971 6 5571134 (Hilversum : Bentham Science Publishers )) pp. 381-386 - issn: 1389-2029 - wos: WOS:000242750400004 (2) - scopus: 2-s2.0-33751435417 (2)

2108/39001 - 2006 - Gene expression profile study in CFTR mutated bronchial cell lines

Biancolella, Michela; Amati, Francesca; Sangiuolo, Federica Carla; Farcomeni, Alessio; Chillemi, Giovanni; Desideri, Alessandro; Novelli, Giuseppe - 01 - Articolo su rivista

rivista: CLINICAL AND EXPERIMENTAL MEDICINE (Springer Verlag Germany:Tiergartenstrasse 17, D 69121 Heidelberg Germany:011 49 6221 3450, EMAIL: g.braun@springer.de, INTERNET: http://www.springer.de, Fax: 011 49 6221 345229) pp. 157-165 - issn: 1591-8890 - wos: WOS:000243226700003 (2) - scopus: 2-s2.0-33845889230 (3)

2108/166457 - 2005 - Oligonucleotide-based gene targeting technologies.

Filareto, Antonio; Del Vecchio, Francesca; Spitalieri, Paola; Sangiuolo, Federica Carla; Novelli, Giuseppe - 01 - Articolo su rivista

rivista: MINERVA BIOTECNOLOGICA (Torino: Edizioni Minerva Medica) pp. - - issn: 1827-160X - wos: WOS:000233177900002 (0) - scopus: 2-s2.0-33744821905 (0)

2108/29385 - 2005 - In vitro restoration of functional SMN protein in human trophoblast cells affected by spinal muscular atrophy by small fragment homologous replacement

Sangiuolo, Federica Carla; Spitalieri, Paola; De Felici, Massimo; Novelli, Giuseppe - 01 - Articolo su rivista

rivista: HUMAN GENE THERAPY (Mary Ann Liebert Incorporated:2 Madison Avenue:Larchmont, NY 10538:(914)834-3100, EMAIL: info@liebertpub.com, swilliams@liebertpub.com, INTERNET: http://www.liebertpub.com, Fax: (914)834-3688) pp. 869-880 - issn: 1043-0342 - wos: WOS:000230478300009 (25) - scopus: 2-s2.0-22144457957 (22)

2108/29382 - 2005 - In vivo and in vitro studies support that a new splicing isoform of OLR1 gene is protective against acute myocardial infarction

Biocca, Silvia; Sangiuolo, Federica Carla; Amati, Francesca; Grelli, Sandro; Spitalieri, Paola; Favalli, Cartesio; Lauro, Renato; Romeo, Francesco; Novelli, Giuseppe - 01 - Articolo su rivista

rivista: CIRCULATION RESEARCH (Lippincott, Williams & Wilkins:530 Walnut Street:Philadelphia, PA 19106:(800)638-3030, (301)223-2300, EMAIL: orders@lww.com, INTERNET: http://www.lww.com, Fax: (301)223-2320, (301)223-2320 PRimo editore: Baltimore, Md. : Grune & Stratton, c1953-) pp. 152-158 - issn: 0009-7330 - wos: WOS:000230668900009 (108) - scopus: 2-s2.0-22744450055 (112)

2108/119441 - 2005 - Progress in Gene Therapy Research (Horizons in Cancer Research; Vol. 20)

Botta, Annalisa; Sangiuolo, Federica Carla; Novelli, Giuseppe - 03 - Contributo in libro

libro: Gene Therapy in Cancer - (1-59454-288-0)

2108/119725 - 2005 - Cellular genetic therapy

Filareto, Antonio; Spitalieri, Paola; Sangiuolo, Federica Carla; Novelli, Giuseppe - 01 - Articolo su rivista

rivista: TRANSPLANTATION PROCEEDINGS (Elsevier Science Incorporated / NY Journals:Madison Square Station, PO Box 882:New York, NY 10159:(212)633-3730, EMAIL: usinfo-f@elsevier.com, INTERNET: http://www.elsevier.com, Fax: (212)633-3680) pp. 2657-2661 - issn: 0041-1345 - wos: WOS:000231689100085 (0) - scopus: 2-s2.0-25144440090 (1)

2108/40852 - 2004 - Expression analysis of the gene encoding for the U-box-type ubiquitin ligase UBE4A in human tissues.

Amati, Francesca; Pucci, Sabina; Botta, Annalisa; Sangiuolo, Federica Carla; Spagnoli, Luigi Giusto; Novelli, Giuseppe - 01 - Articolo su rivista

rivista: GENE (Amsterdam Netherlands: Elsevier BV) pp. 69-74 - issn: 0378-1119 - wos: WOS:000220537400007 (22) - scopus: 2-s2.0-12144287243 (22)

2108/30270 - 2004 - Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency

Sangiuolo, Federica Carla; Novelli, Giuseppe - 01 - Articolo su rivista

rivista: HUMAN MUTATION (John Wiley & Sons Incorporated:Customer Service, 111 River Street:Hoboken, NJ 07030:(800)225-5945, (201)748-6000, EMAIL: societyinfo@wiley.com, INTERNET: http://www.wiley.com, Fax: (212)748-6551) pp. 396-396 - issn: 1059-7794 - wos: WOS:000208804000002 (26) - scopus: 2-s2.0-2342558726 (36)

2108/30267 - 2004 - Toward the pharmacogenomics of cystic fibrosis: an update

Sangiuolo, Federica Carla; Gambardella, Sergio; Di Daniele, Nicola; Novelli, Giuseppe - 01 - Articolo su rivista

rivista: PHARMACOGENOMICS (Ashley Publications Limited:Unitec House, Third Floor, 2 Albert Place, Finchley Central, London N3 1QB United Kingdom:011 44 208 3433883, EMAIL: jdrake@ashley-pub.com, INTERNET: http://www.ashley-pub.com, Fax: 011 44 208 3432313) pp. 861-878 - issn: 1462-2416 - wos: WOS:000224611500012 (4) - scopus: 2-s2.0-6344289404 (6)

2108/166463 - 2004 - Prenatal diagnosis of spinal muscular atrophy with respiratory distress (SMARD1) in a twin pregnancy [5]

Sangiuolo, Federica Carla; Filareto, Antonio; Giardina, Emiliano; Pietropolli, Adalgisa; Novelli, Giuseppe - 01 - Articolo su rivista

rivista: PRENATAL DIAGNOSIS (John Wiley & Sons Limited:1 Oldlands Way, Bognor Regis, P022 9SA United Kingdom:011 44 1243 779777, EMAIL: cs-journals@wiley.co.uk, INTERNET: http://www.wiley.co.uk, Fax: 011 44 1243 843232) pp. 839-841 - issn: 0197-3851 - wos: WOS:000224872800021 (3) - scopus: 2-s2.0-7944222624 (9)

2108/30262 - 2004 - Sequence-specific modification of mouse genomic DNA mediated by gene targeting techniques

Sangiuolo, Federica Carla; Novelli, Giuseppe - 01 - Articolo su rivista

rivista: CYTOGENETIC AND GENOME RESEARCH (S Karger AG:Allschwilerstrasse 10, CH-4009 Basel Switzerland:011 41 61 3061111, EMAIL: orders@karger.ch, INTERNET: http://www.karger.com, Fax: 011 41 61 3061234) pp. 435-441 - issn: 1424-8581 - wos: WOS:000224158000032 (10) - scopus: 2-s2.0-3242798871 (13)

2108/30271 - 2004 - Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy

Gambardella, Sergio; Sangiuolo, Federica Carla; Novelli, Giuseppe - 01 - Articolo su rivista

rivista: BMC MEDICAL GENETICS (London: BioMed Central, 2000-) pp. 8-8 - issn: 1471-2350 - wos: 15084222 (0) - scopus: 2-s2.0-2542428577 (21)

2108/166465 - 2003 - 108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, The Netherlands

Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: NEUROMUSCULAR DISORDERS (Elsevier Science Limited:Oxford Fulfillment Center, PO Box 800, Kidlington Oxford OX5 1DX United Kingdom:011 44 1865 843000, 011 44 1865 843699, EMAIL: asianfo@elsevier.com, tcb@elsevier.co.UK, INTERNET: http://www.elsevier.com, http://www.elsevier.com/locate/shpsa/, Fax: 011 44 1865 843010) pp. 508-515 - issn: 0960-8966 - wos: (0) - scopus: 2-s2.0-0042164479 (90)

2108/8811 - 2003 - Analysis of intracellular distribution and apoptosis involvement of the Ufd1l gene product by over-expression studies

Amati, Francesca; Condo', Ivano; Sangiuolo, Federica Carla; Testi, Roberto; Novelli, Giuseppe - 01 - Articolo su rivista

rivista: CELL BIOCHEMISTRY AND FUNCTION (John Wiley & Sons Limited:1 Oldlands Way, Bognor Regis, P022 9SA United Kingdom:011 44 1243 779777, EMAIL: cs-journals@wiley.co.uk, INTERNET: http://www.wiley.co.uk, Fax: 011 44 1243 843232) pp. 263-7- - issn: 0263-6484 - wos: WOS:000184750200012 (3) - scopus: 2-s2.0-0042233815 (2)

2108/166691 - 2003 - Sequence-specific modification of genomic DNA by small DNA fragments

Novelli, Giuseppe; Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: THE JOURNAL OF CLINICAL INVESTIGATION (American Society for Clinical Investigation:PO Box 7226:Ann Arbor, MI 48107:(734)222-6050, EMAIL: rhickman@the-jci.org, INTERNET: http://www.jci.org, Fax: (734)222-6058) pp. 637-641 - issn: 0021-9738 - wos: WOS:000185209900003 (63) - scopus: 2-s2.0-85047694636 (78)

2108/166469 - 2002 - Isolation of CF cell lines corrected at ΔF508-CFTR locus by SFHR-mediated targeting

Sangiuolo, Federica Carla; Novelli, Giuseppe - 01 - Articolo su rivista

rivista: GENE THERAPY (Attuale: Nature Publishing Group Macmillan Magazines Limited:Porters South Crinian Street, London N1 9XW United Kingdom:011 44 207 8334000, 011 44 171 8434982, Fax: 011 44 207 812358) pp. 683-685 - issn: 0969-7128 - wos: WOS:000175678600008 (133) - scopus: 2-s2.0-0036272055 (142)

2108/50693 - 2002 - Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C

Novelli, Giuseppe; Sangiuolo, Federica Carla; D'apice, Maria Rosaria; Sbraccia, Paolo; Federici, Massimo; Lauro, Renato; Tudisco, Cosimo - 01 - Articolo su rivista

rivista: AMERICAN JOURNAL OF HUMAN GENETICS (University of Chicago Press:PO Box 37005, Journals Division:Chicago, IL 60637:(877)705-1878, (877)705-1878, (773)753-2247, EMAIL: subscriptions@press.uchicago.edu, INTERNET: http://www.press.uchicago.edu, Fax: (877)705-1879, (773)753-0811) pp. 426-431 - issn: 0002-9297 - wos: WOS:000176977700022 (409) - scopus: 2-s2.0-12244293441 (469)

2108/166467 - 2002 - In vitro correction of cystic fibrosis epithelial cell lines by small fragment homologous replacement (SFHR) technique

Sangiuolo, Federica Carla; Novelli, Giuseppe - 01 - Articolo su rivista

rivista: BMC MEDICAL GENETICS (London: BioMed Central, 2000-) pp. 8- - issn: 1471-2350 - wos: (0) - scopus: 2-s2.0-0042368424 (26)

2108/166471 - 2002 - Towards the pharmacogenomics of cystic fibrosis

Sangiuolo, Federica Carla; D'apice, Maria Rosaria; Novelli, Giuseppe - 01 - Articolo su rivista

rivista: PHARMACOGENOMICS (Ashley Publications Limited:Unitec House, Third Floor, 2 Albert Place, Finchley Central, London N3 1QB United Kingdom:011 44 208 3433883, EMAIL: jdrake@ashley-pub.com, INTERNET: http://www.ashley-pub.com, Fax: 011 44 208 3432313) pp. 75-87 - issn: 1462-2416 - wos: WOS:000175887700014 (5) - scopus: 2-s2.0-0036205854 (5)

2108/166473 - 2001 - Mapping of a new autosomal dominant nonsyndromic hearing loss locus (DFNA30) to chromosome 15q25-26

Capon, Francesca; Sangiuolo, Federica Carla; Novelli, Giuseppe - 01 - Articolo su rivista

rivista: EUROPEAN JOURNAL OF HUMAN GENETICS (-NATURE PUBLISHING GROUP, MACMILLAN BUILDING, 4 CRINAN ST, LONDON, ENGLAND, N1 9XW -S Karger AG:Allschwilerstrasse 10, CH-4009 Basel Switzerland:011 41 61 3061111, EMAIL: orders@karger.ch, INTERNET: http://www.karger.com, Fax: 011 41 61 3061234) pp. 667-671 - issn: 1018-4813 - wos: WOS:000171723200003 (8) - scopus: 2-s2.0-0034809031 (10)

2108/119240 - 2001 - Letter to the editor: Exclusion of the elastin gene in the pathogenesis of Costello syndrome

Botta, Annalisa; Sangiuolo, Federica Carla; Novelli, Giuseppe - 01 - Articolo su rivista

rivista: AMERICAN JOURNAL OF MEDICAL GENETICS (John Wiley & Sons Incorporated:Customer Service, 111 River Street:Hoboken, NJ 07030:(800)225-5945, (201)748-6000, EMAIL: societyinfo@wiley.com, INTERNET: http://www.wiley.com, Fax: (212)748-6551) pp. 286-287 - issn: 0148-7299 - wos: WOS:000166718600016 (11) - scopus: 2-s2.0-0035931602 (12)

2108/166475 - 2001 - Pharmacogenetics of human androgens and prostatic diseases

Novelli, Giuseppe; Margiotti, Katia; Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: PHARMACOGENOMICS (Ashley Publications Limited:Unitec House, Third Floor, 2 Albert Place, Finchley Central, London N3 1QB United Kingdom:011 44 208 3433883, EMAIL: jdrake@ashley-pub.com, INTERNET: http://www.ashley-pub.com, Fax: 011 44 208 3432313) pp. 65-72 - issn: 1462-2416 - wos: WOS:000172577000007 (18) - scopus: 2-s2.0-0034940666 (19)

2108/51948 - 2001 - Letter to the editor: exclusion of the elastin gene in the pathogenesis of Costello syndrome [4]

Botta, Annalisa; Sangiuolo, Federica Carla; Novelli, Giuseppe - 01 - Articolo su rivista

2108/117968 - 2001 - Cloning and molecular characterization of three ubiquitin fusion degradation 1 (Ufd1) ortholog genes from Xenopus laevis, Gallus gallus and Drosophila melanogaster

Amati, Francesca; Sangiuolo, Federica Carla; Botta, Annalisa; Novelli, Giuseppe - 01 - Articolo su rivista

rivista: CYTOGENETICS AND CELL GENETICS (S Karger AG:Allschwilerstrasse 10, CH-4009 Basel Switzerland:011 41 61 3061111, EMAIL: orders@karger.ch, INTERNET: http://www.karger.com, Fax: 011 41 61 3061234) pp. 279-282 - issn: 0301-0171 - wos: WOS:000169735500019 (6) - scopus: 2-s2.0-0034943605 (6)

2108/166510 - 2000 - Evidence for an association between the SRD5A2 (type II steroid 5 alpha-reductase) locus and prostate cancer in Italian patients

Sangiuolo, Federica Carla; Novelli, Giuseppe - 01 - Articolo su rivista

rivista: DISEASE MARKERS (Cairo : Hindawi Publishing Corporation Amsterdam Netherlands: IOS Press) pp. 147-150 - issn: 0278-0240 - wos: WOS:000169960500010 (37) - scopus: 2-s2.0-0034436935 (38)

2108/166508 - 2000 - Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe

Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: HUMAN GENETICS (Germany: Springer Verlag Germany) pp. 259-268 - issn: 0340-6717 - wos: WOS:000086661100001 (113) - scopus: 2-s2.0-0342657015 (125)

2108/166512 - 2000 - Fine mapping of a distinctive autosomal dominant vacuolar neuromyopathy using 11 novel microsatellite markers from chromosome band 19p13.3

Sangiuolo, Federica Carla; Capon, Francesca; Novelli, Giuseppe - 01 - Articolo su rivista

rivista: EUROPEAN JOURNAL OF HUMAN GENETICS (-NATURE PUBLISHING GROUP, MACMILLAN BUILDING, 4 CRINAN ST, LONDON, ENGLAND, N1 9XW -S Karger AG:Allschwilerstrasse 10, CH-4009 Basel Switzerland:011 41 61 3061111, EMAIL: orders@karger.ch, INTERNET: http://www.karger.com, Fax: 011 41 61 3061234) pp. 809-812 - issn: 1018-4813 - wos: WOS:000089938600015 (4) - scopus: 2-s2.0-0033773032 (4)

2108/166514 - 1999 - Gene transfection efficiency of tracheal epithelial cells by DC-chol-DOPE/DNA complexes

Sangiuolo, Federica Carla; Novelli, Giuseppe - 01 - Articolo su rivista

rivista: BIOCHIMICA ET BIOPHYSICA ACTA (Elsevier BV:PO Box 211, 1000 AE Amsterdam Netherlands:011 31 20 4853757, 011 31 20 4853642, 011 31 20 4853641, EMAIL: nlinfo-f@elsevier.nl, INTERNET: http://www.elsevier.nl, Fax: 011 31 20 4853598) pp. 186-194 - issn: 0006-3002 - wos: WOS:000081619400007 (19) - scopus: 2-s2.0-0033067270 (24)

2108/166516 - 1999 - Cellular uptake and delivery monitoring of liposome/DNA complexes during in vitro transfection of CFTR gene

Novelli, Giuseppe; Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: BIOCHEMISTRY AND MOLECULAR BIOLOGY INTERNATIONAL (Academic Press Incorporated:6277 Sea Harbor Drive:Orlando, FL 32887:(800)543-9534, (407)345-4100, EMAIL: ap@acad.com, INTERNET: http://www.idealibrary.com, Fax: (407)352-3445) pp. 337-344 - issn: 1039-9712 - wos: WOS:000079366300021 (1) - scopus: 2-s2.0-0032986952 (1)

2108/166518 - 1999 - A distinctive autosomal dominant vacuolar neuromyopathy linked to 19p13

Capon, Francesca; Sangiuolo, Federica Carla; Novelli, Giuseppe - 01 - Articolo su rivista

rivista: NEUROLOGY (Wolters Kluwer Hagerstown MD: Lippincott Williams & Wilkins Cleveland Ohio: Advanstar Communications) pp. 830-837 - issn: 0028-3878 - wos: WOS:000082518300030 (21) - scopus: 2-s2.0-0033546999 (31)

2108/11029 - 1999 - Expression analysis and protein localization of the human HPC-1/syntaxin 1A, a gene deleted in Williams syndrome

Botta, Annalisa; Sangiuolo, Federica Carla; Potenza, Saverio; Novelli, Giuseppe - 01 - Articolo su rivista

rivista: GENOMICS (Amsterdam The Netherlands; Boston: Elsevier :Orlando, FL: Academic Press Incorporated) pp. 525-528 - issn: 0888-7543 - wos: WOS:000085089400024 (25) - scopus: 2-s2.0-0033572591 (25)

2108/335587 - 1998 - Current status of cationic liposome-mediated gene therapy in cystic fibrosis

Sangiuolo, Federica Carla; Novelli, Giuseppe - 01 - Articolo su rivista

rivista: ACTA PHARMACEUTICA (Zagreb: Croatian Pharmaceutical Society, 1997- .) pp. 221-227 - issn: 1846-9558 - wos: (0) - scopus: 2-s2.0-6544294750 (4)

2108/117877 - 1998 - Structure and expression of the human ubiquitin fusion-degradation gene (UFD1L)

Novelli, Giuseppe; Amati, Francesca; Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: BIOCHIMICA ET BIOPHYSICA ACTA (Elsevier BV:PO Box 211, 1000 AE Amsterdam Netherlands:011 31 20 4853757, 011 31 20 4853642, 011 31 20 4853641, EMAIL: nlinfo-f@elsevier.nl, INTERNET: http://www.elsevier.nl, Fax: 011 31 20 4853598) pp. 158-162 - issn: 0006-3002 - wos: WOS:000072629900007 (25) - scopus: 2-s2.0-0032498935 (24)

2108/119434 - 1998 - Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita. Mutations in brief no. 118. Online

Sangiuolo, Federica Carla; Botta, Annalisa; Novelli, Giuseppe - 01 - Articolo su rivista

rivista: HUMAN MUTATION (John Wiley & Sons Incorporated:Customer Service, 111 River Street:Hoboken, NJ 07030:(800)225-5945, (201)748-6000, EMAIL: societyinfo@wiley.com, INTERNET: http://www.wiley.com, Fax: (212)748-6551) pp. 331-331 - issn: 1059-7794 - wos: WOS:000072859000013 (27) - scopus: 2-s2.0-0032242278 (28)

2108/166522 - 1997 - Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium

Sangiuolo, Federica Carla - 01 - Articolo su rivista

2108/166520 - 1997 - Genetic history of cystic fibrosis mutations in Italy. I. Regional distribution

Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: ANNALS OF HUMAN GENETICS (-MALDEN, USA: WILEY-BLACKWELL PUBLISHING, INC -Cambridge, United Kingdom: Cambridge University Press) pp. 411-24- - issn: 0003-4800 - wos: (0) - scopus: (0)

2108/117995 - 1997 - The molecular genetics of the DiGeorge syndrome

Novelli, Giuseppe; Amati, Francesca; Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: INTERNATIONAL JOURNAL OF IMMUNOPATHOLOGY AND PHARMACOLOGY (- London : SAGE Publications Ltd - Chieti : Biomedical Research Press, 1988-) pp. 21-23 - issn: 0394-6320 - wos: WOS:000082591400007 (0) - scopus: 2-s2.0-12644291166 (0)

2108/364944 - 1997 - Genetic history of cystic fibrosis mutations in Italy. I. Regional distribution

Silvetti, Massimo; Battistini, Fulvio; Marianelli, Laura; Romano, Cristiana; Giunta, Alessandro; Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: ANNALS OF HUMAN GENETICS (-MALDEN, USA: WILEY-BLACKWELL PUBLISHING, INC -Cambridge, United Kingdom: Cambridge University Press) pp. 411-424 - issn: 0003-4800 - wos: WOS:000071424300004 (59) - scopus: 2-s2.0-0031446288 (68)

2108/166526 - 1996 - Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency

Sangiuolo, Federica Carla; Novelli, Giuseppe - 01 - Articolo su rivista

rivista: HUMAN MUTATION (John Wiley & Sons Incorporated:Customer Service, 111 River Street:Hoboken, NJ 07030:(800)225-5945, (201)748-6000, EMAIL: societyinfo@wiley.com, INTERNET: http://www.wiley.com, Fax: (212)748-6551) pp. 369-372 - issn: 1059-7794 - wos: WOS:A1996VV88000012 (7) - scopus: 2-s2.0-0029839581 (7)

2108/117856 - 1996 - Human homologue sequences to the Drosophila dishevelled segment-polarity gene are deleted in the DiGeorge syndrome

Novelli, Giuseppe; Amati, Francesca; Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: AMERICAN JOURNAL OF HUMAN GENETICS (University of Chicago Press:PO Box 37005, Journals Division:Chicago, IL 60637:(877)705-1878, (877)705-1878, (773)753-2247, EMAIL: subscriptions@press.uchicago.edu, INTERNET: http://www.press.uchicago.edu, Fax: (877)705-1879, (773)753-0811) pp. 722-729 - issn: 0002-9297 - wos: WOS:A1996UA38000008 (46) - scopus: 2-s2.0-19144364568 (42)

2108/166528 - 1996 - Non-invasive early prenatal molecular diagnosis using retrieved transcervical trophoblast cells

Novelli, Giuseppe; Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: HUMAN GENETICS (Germany: Springer Verlag Germany) pp. 150-155 - issn: 0340-6717 - wos: WOS:A1996TR66900005 (33) - scopus: 2-s2.0-0029671222 (39)

2108/166524 - 1996 - Assignment of the hexokinase type 3 gene (HK3) to human chromosome band 5q35.3 by somatic cell hybrids and in situ hybridization

Sangiuolo, Federica Carla; Novelli, Giuseppe - 01 - Articolo su rivista

rivista: CYTOGENETICS AND CELL GENETICS (S Karger AG:Allschwilerstrasse 10, CH-4009 Basel Switzerland:011 41 61 3061111, EMAIL: orders@karger.ch, INTERNET: http://www.karger.com, Fax: 011 41 61 3061234) pp. 187-188 - issn: 0301-0171 - wos: WOS:A1996VT85800016 (4) - scopus: 2-s2.0-0029824020 (6)

2108/166531 - 1995 - Analysis of linkage disequilibrium between different cystic fibrosis mutations and three intragenic microsatellites in the Italian population

Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: HUMAN MUTATION (John Wiley & Sons Incorporated:Customer Service, 111 River Street:Hoboken, NJ 07030:(800)225-5945, (201)748-6000, EMAIL: societyinfo@wiley.com, INTERNET: http://www.wiley.com, Fax: (212)748-6551) pp. 23-27 - issn: 1059-7794 - wos: WOS:A1995QC24400002 (10) - scopus: 2-s2.0-0028843487 (8)

2108/119436 - 1995 - Simultaneous detection of delta F508, G542X, N1303K, G551D, and 1717-1G-->A cystic fibrosis alleles by a multiplex DNA enzyme immunoassay

Sangiuolo, Federica Carla; Botta, Annalisa; Novelli, Giuseppe - 01 - Articolo su rivista

rivista: INTERNATIONAL JOURNAL OF CLINICAL & LABORATORY RESEARCH (Springer Verlag Germany:Tiergartenstrasse 17, D 69121 Heidelberg Germany:011 49 6221 3450, EMAIL: g.braun@springer.de, INTERNET: http://www.springer.de, Fax: 011 49 6221 345229) pp. 142-145 - issn: 0940-5437 - wos: WOS:A1995RV42200004 (6) - scopus: 2-s2.0-0028980615 (7)

2108/166533 - 1994 - A new method for direct analysis of polymerase chain reaction-amplified human papillomavirus using DNA enzyme immunoassay

Sangiuolo, Federica Carla; Novelli, Giuseppe - 01 - Articolo su rivista

rivista: INTERNATIONAL JOURNAL OF CLINICAL & LABORATORY RESEARCH (Springer Verlag Germany:Tiergartenstrasse 17, D 69121 Heidelberg Germany:011 49 6221 3450, EMAIL: g.braun@springer.de, INTERNET: http://www.springer.de, Fax: 011 49 6221 345229) pp. 223-226 - issn: 0940-5437 - wos: WOS:A1994PV66600010 (13) - scopus: 2-s2.0-0028189697 (15)

2108/166535 - 1994 - The up-to-date molecular genetics of cystic fibrosis

Novelli, Giuseppe; Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: BIOMÉDECINE & PHARMACOTHÉRAPIE (Paris: Editions Scientifique & Medical Elsevier) pp. 455-463 - issn: 0753-3322 - wos: WOS:A1994QA72900006 (3) - scopus: 2-s2.0-0028607176 (3)

2108/335585 - 1994 - Le sindromi miotoniche

Novelli, Giuseppe; Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: PROSPETTIVE IN PEDIATRIA (Pisa: PAcini Milano: Centro Informazione Sanitaria) pp. 161-169 - issn: 0301-3642 - wos: (0) - scopus: (0)

2108/166539 - 1993 - Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients

Novelli, Giuseppe; Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: HUMAN HEREDITY (S Karger AG:Allschwilerstrasse 10, CH-4009 Basel Switzerland:011 41 61 3061111, EMAIL: orders@karger.ch, INTERNET: http://www.karger.com, Fax: 011 41 61 3061234) pp. 295-300 - issn: 0001-5652 - wos: WOS:A1993LV16200005 (21) - scopus: 2-s2.0-0027264528 (19)

2108/166543 - 1993 - Isolation and cloning by a polymerase chain reaction of a genomic DNA fragment of the human slow skeletal troponin (TNNT1) gene

Novelli, Giuseppe; Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: CELL BIOCHEMISTRY AND FUNCTION (John Wiley & Sons Limited:1 Oldlands Way, Bognor Regis, P022 9SA United Kingdom:011 44 1243 779777, EMAIL: cs-journals@wiley.co.uk, INTERNET: http://www.wiley.co.uk, Fax: 011 44 1243 843232) pp. 187-191 - issn: 0263-6484 - wos: WOS:A1993LU35000005 (1) - scopus: 2-s2.0-0027204286 (1)

2108/166537 - 1993 - Molecular characterization of a frameshift mutation in exon 19 of the CFTR gene

Sangiuolo, Federica Carla; Novelli, Giuseppe - 01 - Articolo su rivista

rivista: HUMAN MUTATION (John Wiley & Sons Incorporated:Customer Service, 111 River Street:Hoboken, NJ 07030:(800)225-5945, (201)748-6000, EMAIL: societyinfo@wiley.com, INTERNET: http://www.wiley.com, Fax: (212)748-6551) pp. 422-424 - issn: 1059-7794 - wos: WOS:A1993LZ77600016 (6) - scopus: 2-s2.0-0027428027 (7)

2108/166545 - 1992 - Polymerase chain reaction in the detection of mRNA transcripts from the slow skeletal troponin T (TNNT1) gene in myotonic dystrophy and normal muscle

Novelli, Giuseppe; Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: CELL BIOCHEMISTRY AND FUNCTION (John Wiley & Sons Limited:1 Oldlands Way, Bognor Regis, P022 9SA United Kingdom:011 44 1243 779777, EMAIL: cs-journals@wiley.co.uk, INTERNET: http://www.wiley.co.uk, Fax: 011 44 1243 843232) pp. 251-256 - issn: 0263-6484 - wos: WOS:A1992JZ59800005 (9) - scopus: 2-s2.0-0026439860 (10)

2108/166547 - 1992 - The cystic fibrosis delta F508 mutation in the Albanian population

Novelli, Giuseppe; Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: AMERICAN JOURNAL OF HUMAN GENETICS (University of Chicago Press:PO Box 37005, Journals Division:Chicago, IL 60637:(877)705-1878, (877)705-1878, (773)753-2247, EMAIL: subscriptions@press.uchicago.edu, INTERNET: http://www.press.uchicago.edu, Fax: (877)705-1879, (773)753-0811) pp. 875-6- - issn: 0002-9297 - wos: WOS:A1992HL84800030 (1) - scopus: 2-s2.0-0026560917 (1)

2108/166549 - 1991 - Analysis of 14 cystic fibrosis mutations in five south European populations

Novelli, Giuseppe; Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: HUMAN GENETICS (Germany: Springer Verlag Germany) pp. 737-738 - issn: 0340-6717 - wos: WOS:A1991GL72300022 (59) - scopus: 2-s2.0-0026004723 (53)

2108/166551 - 1991 - Forensic applications of molecular genetic analysis: an Italian collaborative study on paternity testing by the determination of variable number of tandem repeat DNA polymorphisms

Novelli, Giuseppe; Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: HUMAN HEREDITY (S Karger AG:Allschwilerstrasse 10, CH-4009 Basel Switzerland:011 41 61 3061111, EMAIL: orders@karger.ch, INTERNET: http://www.karger.com, Fax: 011 41 61 3061234) pp. 174-181 - issn: 0001-5652 - wos: WOS:A1991FP45000006 (7) - scopus: 2-s2.0-0025854795 (7)

2108/166553 - 1991 - The search for south European cystic fibrosis mutations: identification of two new mutations, four variants, and intronic sequences

Sangiuolo, Federica Carla; Novelli, Giuseppe - 01 - Articolo su rivista

rivista: GENOMICS (Amsterdam The Netherlands; Boston: Elsevier :Orlando, FL: Academic Press Incorporated) pp. 193-200 - issn: 0888-7543 - wos: WOS:A1991FK40800025 (111) - scopus: 2-s2.0-0025762972 (111)

2108/166557 - 1991 - A serine-to-arginine (AGT-to-CGT) mutation in codon 549 of the CFTR gene in an Italian patient with severe cystic fibrosis

Sangiuolo, Federica Carla; Novelli, Giuseppe - 01 - Articolo su rivista

rivista: GENOMICS (Amsterdam The Netherlands; Boston: Elsevier :Orlando, FL: Academic Press Incorporated) pp. 788-789 - issn: 0888-7543 - wos: WOS:A1991FB62900034 (16) - scopus: 2-s2.0-0025980563 (17)

2108/166559 - 1990 - Delta F508 gene deletion and prenatal diagnosis of cystic fibrosis in Italian and Spanish families

Novelli, Giuseppe; Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: PRENATAL DIAGNOSIS (John Wiley & Sons Limited:1 Oldlands Way, Bognor Regis, P022 9SA United Kingdom:011 44 1243 779777, EMAIL: cs-journals@wiley.co.uk, INTERNET: http://www.wiley.co.uk, Fax: 011 44 1243 843232) pp. 413-414 - issn: 0197-3851 - wos: WOS:A1990DQ98600008 (6) - scopus: 2-s2.0-0025063540 (8)

2108/166561 - 1990 - Polymorphic DNA haplotypes and delta F508 deletion in 212 Italian CF families

Novelli, Giuseppe; Sangiuolo, Federica Carla - 01 - Articolo su rivista

rivista: HUMAN GENETICS (Germany: Springer Verlag Germany) pp. 420-421 - issn: 0340-6717 - wos: WOS:A1990DZ83000024 (13) - scopus: 2-s2.0-0025013955 (11)