Gioacchino Scarano
Gioacchino Scarano
Genetica medica ospedale Gaetano Rummo Benevento
Dirección de correo verificada de ao-rummo.it
TítuloCitado porAño
Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C
G Novelli, A Muchir, F Sangiuolo, A Helbling-Leclerc, MR D’Apice, ...
The American Journal of Human Genetics 71 (2), 426-431, 2002
5202002
Geographical and ethnic variation of the 677C> T allele of 5, 10 methylenetetrahydrofolate reductase (MTHFR): findings from over 7000 newborns from 16 areas world wide
B Wilcken, F Bamforth, Z Li, H Zhu, A Ritvanen, M Redlund, C Stoll, ...
Journal of medical genetics 40 (8), 619-625, 2003
4972003
Prenatal diagnosis of severe structural congenital malformations in Europe
E Garne, M Loane, H Dolk, C De Vigan, G Scarano, D Tucker, C Stoll, ...
Ultrasound in Obstetrics and Gynecology: The Official Journal of the …, 2005
3212005
International retrospective cohort study of neural tube defects in relation to folic acid recommendations: are the recommendations working?
LD Botto, A Lisi, E Robert-Gnansia, JD Erickson, SE Vollset, ...
Bmj 330 (7491), 571, 2005
2912005
Preventing neural tube defects in Europe: a missed opportunity
A Busby, B Armstrong, H Dolk, N Armstrong, M Haeusler, A Berghold, ...
Reproductive Toxicology 20 (3), 393-402, 2005
1642005
Gastroschisis and associated defects: an international study
P Mastroiacovo, A Lisi, EE Castilla, ML Martínez‐Frías, E Bermejo, ...
American journal of medical genetics Part A 143 (7), 660-671, 2007
1542007
WNT4 deficiency—a clinical phenotype distinct from the classic Mayer–Rokitansky–Kuster–Hauser syndrome: a case report
A Biason-Lauber, G De Filippo, D Konrad, G Scarano, A Nazzaro, ...
Human reproduction 22 (1), 224-229, 2006
1462006
Effect of paternal age in achondroplasia, thanatophoric dysplasia, and osteogenesis imperfecta
IM Orioli, EE Castilla, G Scarano, P Mastroiacovo
American journal of medical genetics 59 (2), 209-217, 1995
1321995
13q Deletion and central nervous system anomalies: further insights from karyotype–phenotype analyses of 14 patients
L Ballarati, E Rossi, MT Bonati, S Gimelli, P Maraschio, P Finelli, S Giglio, ...
Journal of medical genetics 44 (1), e60-e60, 2007
1122007
Alterations of nuclear envelope and chromatin organization in mandibuloacral dysplasia, a rare form of laminopathy
I Filesi, F Gullotta, G Lattanzi, MR D'Apice, C Capanni, AM Nardone, ...
Physiological genomics 23 (2), 150-158, 2005
1082005
Conjoined twins: a worldwide collaborative epidemiological study of the International Clearinghouse for Birth Defects Surveillance and Research
OM Mutchinick, L Luna‐Muñoz, E Amar, MK Bakker, M Clementi, ...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2011
982011
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes
AC Lionel, K Tammimies, AK Vaags, JA Rosenfeld, JW Ahn, D Merico, ...
Human molecular genetics 23 (10), 2752-2768, 2013
882013
Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation
A Selicorni, S Russo, C Gervasini, P Castronovo, D Milani, F Cavalleri, ...
Clinical genetics 72 (2), 98-108, 2007
882007
Sex and congenital malformations: an international perspective
A Lisi, LD Botto, M Rittler, E Castilla, F Bianchi, B Botting, H De Walle, ...
American Journal of Medical Genetics Part A 134 (1), 49-57, 2005
812005
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients
L Micale, B Augello, C Fusco, A Selicorni, MN Loviglio, MC Silengo, ...
Orphanet journal of rare diseases 6 (1), 38, 2011
802011
Sirenomelia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research, and literature review
IM Orioli, E Amar, J Arteaga‐Vazquez, MK Bakker, S Bianca, LD Botto, ...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2011
782011
Frequency of holoprosencephaly in the International Clearinghouse Birth Defects Surveillance Systems: searching for population variations
E Leoncini, G Baranello, IM Orioli, G Annerén, M Bakker, F Bianchi, ...
Birth Defects Research Part A: Clinical and Molecular Teratology 82 (8), 585-591, 2008
732008
Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe
I Barisic, L Odak, M Loane, E Garne, D Wellesley, E Calzolari, H Dolk, ...
European Journal of Human Genetics 22 (8), 1026, 2014
682014
Clinical and molecular characterization of Rubinstein‐Taybi syndrome patients carrying distinct novel mutations of the EP300 gene
G Negri, D Milani, P Colapietro, F Forzano, M Della Monica, D Rusconi, ...
Clinical genetics 87 (2), 148-154, 2015
652015
Evidence for increased clinical severity of familial and sporadic Paget's disease of bone in Campania, southern Italy
D Rendina, L Gennari, G De Filippo, D Merlotti, E De Campora, F Fazioli, ...
Journal of Bone and Mineral Research 21 (12), 1828-1835, 2006
622006
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