Affiliation: Istituto Auxologico Italiano
- Genetic investigations on 8 patients affected by ring 20 chromosome syndromeDaniela Giardino
Laboratorio di Citogenetica Medica e Genetica Molecolare, IRCCS Istituto Auxologico Italiano Milan, Italy
BMC Med Genet 11:146. 2010..We performed a detailed clinical and genetic study on 8 patients with r(20) chromosome, aimed at detecting the genetic mechanism underlying r(20) syndrome...
- Deletion of the AP1S2 gene in a child with psychomotor delay and hypotoniaLucia Ballarati
Laboratorio di Citogenetica Medica e Genetica Molecolare, IRCCS Istituto Auxologico Italiano, Milano, Italy
Eur J Med Genet 55:124-7. 2012..The clinical features of our patient are quite similar to those reported in male patients carrying point mutations, thus suggesting that point mutations and deletions of the AP1S2 gene lead to a recognisable XLMR phenotype in males...
- Cytogenetic, FISH and array-CGH characterization of a complex chromosomal rearrangement carried by a mentally and language impaired patientLucia Ballarati
Lab Citogenetica Medica e Genetica Molecolare, IRCCS, Istituto Auxologico Italiano, Milan, Italy
Eur J Med Genet 52:218-23. 2009....
- Genotype-phenotype correlations in a new case of 8p23.1 deletion and review of the literatureLucia Ballarati
Laboratorio Citogenetica Medica e Genetica Molecolare, IRCCS Istituto Auxologico Italiano, Milano, Italy
Eur J Med Genet 54:55-9. 2011..The inclusion of TNKS gene in the deletion interval without any phenotypical signs of Cornelia de Lange syndrome (CdLS) invalidates TNKS as a plausible candidate gene for the syndrome itself...
- Complex rearrangement involving 9p deletion and duplication in a syndromic patient: genotype/phenotype correlation and review of the literatureMaria Paola Recalcati
Laboratorio di Citogenetica Medica e Genetica Molecolare, IRCCS Istituto Auxologico Italiano, Milan, Italy
Gene 502:40-5. 2012..Patient's phenotype and the underlying flanking opposite 9p imbalances are compared with that of reported patients and the proposed critical regions for 9p deletion and 9p duplication syndromes...
- 7p22.1 microduplication syndrome: Clinical and molecular characterization of an adult case and review of the literatureRossella Caselli
Lab Citogenetica e Genetica Molecolare, IRCCS Istituto Auxologico Italiano, Milano, Italy Electronic address
Eur J Med Genet 58:578-83. 2015..We compare the phenotype of our patient with that of the few reported cases and discuss on candidate genes in order to enhance the knowledge on genotype-phenotype correlation in 7p22.1 duplication syndrome. ..
- Electroclinical pattern in MECP2 duplication syndrome: eight new reported cases and review of literatureAglaia Vignoli
Epilepsy Center, San Paolo Hospital, Department of Medicine, Surgery and Dentistry, University of Milan, Milan, Italy
Epilepsia 53:1146-55. 2012..Herein we describe eight patients with MECP2 duplication syndrome and a specific clinical and electroencephalographic pattern...
- De novo balanced chromosome rearrangements in prenatal diagnosisDaniela Giardino
Lab Citogenetica Medica e Genetica Molecolare, IRCCS Ist Auxologico Italiano, Milano, Italy
Prenat Diagn 29:257-65. 2009....
- Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomesChiara Castronovo
Laboratorio di Citogenetica Medica e Genetica Molecolare, IRCCS Istituto Auxologico Italiano, Via Ariosto 13, 20145, Milano, Italy
Mol Cytogenet 6:45. 2013....