- Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems
Laboratorio di Citogenetica, Istituto G, Gaslini, Genova, Italy
BMC Med Genet 13:93. 2012
- A t(7;12) balanced translocation with breakpoints overlapping those of the Williams-Beuren and 12q14 microdeletion syndromes
Biologia Generale e Genetica Medica, Universita di Pavia and IRCCS C Mondino, Pavia, Italy
Am J Med Genet A 152:1285-94. 2010
..This case showed that position-effect might operate in some tissues, but not in others. It also illustrates the overlap of phenotypes presented by patients with the recently described 12q14 structural rearrangements...
- Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children
Laboratorio di Citogenetica, Istituto G Gaslini, 16147 Genova, Italy
Orphanet J Rare Dis 6:12. 2011
..In addition the CHL1 gene, mapping at 3p26.3 distally to CRBN and CNTN4, was proposed as candidate gene for a non specific mental retardation because of its high level of expression in the brain...
- Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports
Casa Sollievo della Sofferenza Hospital, IRCCS, S San Giovanni Rotondo, Italy
Orphanet J Rare Dis 4:25. 2009
..This disorder has an incidence of approximately 1 in 4500 newborn girls and the aetiology is poorly understood...
- The tumor suppressor gene TRC8/RNF139 is disrupted by a constitutional balanced translocation t(8;22)(q24.13;q11.21) in a young girl with dysgerminoma
Biologia Generale e Genetica Medica, UniversitÃ di Pavia, Pavia, Italy
Mol Cancer 8:52. 2009
..We report a paternally inherited balanced translocation t(8;22) in a proposita with dysgerminoma...
- A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation
Biologia Generale e Genetica Medica, Universita di Pavia, Pavia, Italy
Am J Med Genet A 146:1754-60. 2008
..Stringent correlations between submicroscopic imbalances, specific behavioral phenotypes and brain imaging will possibly help in dissecting complex behavioral traits...
- Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract
Biologia Generale e Genetica Medica, Universita di Pavia, Pavia, Italy Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland
Hum Mutat 31:1352-9. 2010
..Y259N protein and inhibition of the β-catenin/Wnt signaling pathway. These data indicate a role of SOX17 in human kidney and urinary tract development and implicate the SOX17-p.Y259N mutation as a causative factor in CAKUT...
- Narrowing the deleted region associated with the 15q21 syndrome
Biologia Generale e Genetica Medica, Universita di Pavia, Via Forlanini, 14 27100 Pavia, Italy
Eur J Med Genet 48:346-52. 2005
..The two deletions resulted to be similar and involve about 12 and 8 Mb, respectively. Our study might promote to delineate a better genotype-phenotype correlation associated with 15q21 deletions...