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Human Mutation|March 29, 2000
Novel mutations of ubiquitin protein ligase 3A gene in Italian patients with Angelman syndromeS Russo, F Cogliati, M Viri, et al.
Prenatal Diagnosis|May 10, 2006
Prenatal diagnosis of a de novo complex chromosome rearrangement (CCR) mediated by six breakpoints, and a review of 20 prenatally ascertained CCRsD Giardino, C Corti, L Ballarati, et al.
Cancer Genetics and Cytogenetics|October 24, 2001
FISH characterization of t(8;12)(q12;p13) observed as the sole karyotypic anomaly in a myelodysplastic syndrome patientP Finelli, N S Fracchiolla, D Giardino, et al.
American Journal of Medical Genetics|February 25, 1998
Molecular characterization of FRAXE-positive subjects with mental impairement in two unrelated Italian familiesS Russo, A Selicorni, M F Bedeschi, et al.
American Journal of Medical Genetics|May 26, 1999
FISH characterization of two supernumerary r(1) associated with distinct clinical phenotypesD Giardino, D Bettio, G Gottardi, et al.
Cytogenetics and Cell Genetics|June 1, 2000
Delineation and physical separation of novel translocation breakpoints on chromosome 1p in two genetically closely associated childhood tumorsM J Steenman, N Zijlstra, D L Kruitbosch, et al.
Journal of Medical Genetics|October 11, 2011
Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein-Taybi syndromeJ P Lopez-Atalaya, C Gervasini, F Mottadelli, et al.
Clinical Genetics|February 21, 2007
Disruption of friend of GATA 2 gene (FOG-2) by a de novo t(8;10) chromosomal translocation is associated with heart defects and gonadal dysgenesisP Finelli, A I Pincelli, S Russo, et al.
Clinical Genetics|March 25, 2010
Somatic mosaicism in Cornelia de Lange syndrome: a further contributor to the wide clinical expressivity?P Castronovo, A Delahaye-Duriez, C Gervasini, et al.
Genomics|February 15, 1997
Eleven X chromosome breakpoints associated with premature ovarian failure (POF) map to a 15-Mb YAC contig spanning Xq21C Sala, G Arrigo, G Torri, et al.
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