Genomes and Genes
Affiliation: Istituto Auxologico Italiano
- A fluorescent method for detecting low-grade 11patUPD mosaicism in Beckwith-Wiedemann syndromeSilvia Russo
Laboratory of Molecular Biology, Istituto Auxologico Italiano, Milan 20135, Italy
Mol Cell Probes 17:295-9. 2003..The interval was defined using a 5% level of significance. The results show that the fluorescence-based technique is superior to radioactivity in detecting the subtle allelic imbalances present in low-grade mosaicism conditions...
- Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patientsSilvia Russo
Laboratory of Medical Cytogenetics and Molecular Genetics, Istituto Auxologico Italiano, Milan, Italy
Eur J Hum Genet 20:734-41. 2012..5% (7/200) of clinically diagnosed CdLS patients. It is recommended that MLPA be included in the CdLS diagnostic flow chart...
- 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...
- Novel mutations in the CDKL5 gene, predicted effects and associated phenotypesS Russo
Molecular Genetics Laboratory, Istituto Auxologico Italiano, Via Zucchi 18 20095 Cusano Milanino MI, Milan, Italy
Neurogenetics 10:241-50. 2009..Furthermore, the mutational repertoire of the CDKL5 gene is shown to be expanded by testing patients with phenotypical overlap to Rett syndrome and applying multiplex ligation-dependent probe amplification...
- Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndromeCristina Gervasini
Medical Genetics, Department of Health Sciences, Universita degli Studi di Milano, Milan, Italy
BMC Med Genet 14:41. 2013..To date, causative mutations in the NIPBL (cohesin regulator) and SMC1A (cohesin structural subunit) genes account for > 50% and 6% of cases, respectively...
- Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrumCristina Gervasini
Department of Health Sciences, Medical Genetics, Universita degli Studi di Milano, Milan, Italy
Am J Med Genet A 161:2909-19. 2013....
- Evaluation of autism traits in Angelman syndrome: a resource to unfold autism genesMaria Teresa Bonati
Clinic of Medical Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy
Neurogenetics 8:169-78. 2007..Evaluation of the behaviour domain suggested that repetitive sensory and motor behaviours correlate with a low developmental profile rather than being specific to autism...
- Functional characterization of CDK5 and CDK5R1 mutations identified in patients with non-syndromic intellectual disabilitySilvia Moncini
Dipartimento di Biotecnologie mediche e Medicina traslazionale, Universita degli Studi di Milano, Milan, Italy
J Hum Genet 61:283-93. 2016..In conclusion, our data suggest that mutations and polymorphisms in CDK5 and CDK5R1 genes may contribute to the onset of the NS-ID phenotype. ..
- Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephalyMaila Giannandrea
Dulbecco Telethon Institute at Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy
Am J Hum Genet 86:185-95. 2010....
- Complex de novo chromosomal rearrangement at 15q11-q13 involving an intrachromosomal triplication in a patient with a severe neuropsychological phenotype: clinical report and review of the literatureChiara Castronovo
Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milano, Italy
Am J Med Genet A 167:221-30. 2015....
- Prenatal/neonatal pathology in two cases of Cornelia de Lange syndrome harboring novel mutations of NIPBLFaustina Lalatta
Clinical Genetic Unit, Fondazione Ospedale Maggiore Policlinico Mangiagalli e Regina Elena, Department of Obstetrics and Pediatrics, Milan, Italy
Genet Med 9:188-94. 2007..Although the correlation between the Cornelia de Lange Syndrome genotype and phenotype is still unclear, preliminary data indicate several severe phenotypic features that are likely to be detected prenatally in NIPBL-mutated patients...
- Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotypePalma Finelli
Laboratory of Medical Cytogenetics and Molecular Genetics, Istituto Auxologico Italiano, Cusano Milanino 20095, Italy
Mol Cytogenet 5:16. 2012..2;q12.1)dn that we assume caused a position effect as a result of the accidental juxtaposition of heterochromatin in the euchromatic region...
- Small familial supernumerary ring chromosome 2: FISH characterization and genotype-phenotype correlationDaniela Giardino
Cytogenetics and Molecular Genetics Laboratory, Auxological Institute, Milan, Italy
Am J Med Genet 111:319-23. 2002..We reviewed the previously reported cases in an attempt to establish genotype-phenotype correlations, which are particularly important when SMCs are identified in prenatal diagnosis...
- Mutations and novel polymorphisms in coding regions and UTRs of CDK5R1 and OMG genes in patients with non-syndromic mental retardationMarco Venturin
Department of Biology and Genetics, Medical Faculty, University of Milan, via Viotti 3 5, 20133, Milan, Italy
Neurogenetics 7:59-66. 2006..Prediction of mRNA and protein secondary structures revealed that two changes lead to putative structural alterations in the mutated c.2254C>G CDK5R1 3'UTR and in OMG T408A gene product...
- Role of UBE3A and ATP10A genes in autism susceptibility region 15q11-q13 in an Italian population: a positive replication for UBE3AGuia Guffanti
Universita degli Studi di Milano, Milan, Italy
Psychiatry Res 185:33-8. 2011..Our data support a potential role of UBE3A in the complex pathogenic mechanisms of autism...
- 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...
- 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...
- Think about it: FMR1 gene mosaicismFrancesca Andrea Bonarrigo
Pediatric Clinic 1, Department of Pathophysiology and Transplantation, University of Milan Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico, Milan, Italy
J Child Neurol 29:NP74-7. 2014..Although rare, diagnosing this condition has important consequences for the patient's rehabilitation and the family planning of parents and relatives. ..
- Mechanisms causing imprinting defects in familial Beckwith-Wiedemann syndrome with Wilms' tumourAngela Sparago
Dipartimento di Scienze Ambientali, Seconda Universita di Napoli, Via Vivaldi 43, 81100 Caserta, Italy
Hum Mol Genet 16:254-64. 2007..Finally, the IC1 microdeletions are associated with a high incidence of Wilms' tumour, making their molecular diagnosis particularly important for genetic counselling and tumour surveillance at follow-up...
- Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central ItalyMaria Rosaria D'Apice
Dipartimento di Biopatologia, Universita di Roma Tor Vergata, Roma, Italy
BMC Med Genet 5:8. 2004..However, molecular diagnosis by direct mutation screening has proved difficult in certain ethnic groups due to allelic heterogeneity and variable frequency of causative mutations...
- Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletionsGiorgio Gimelli
Laboratorio di Citogenetica, Istituto G Gaslini, Genoa, Italy
Hum Mol Genet 12:849-58. 2003..004). The BP2/3 inversion should be an intermediate estate that facilitates the occurrence of 15q11-q13 BP2/3 deletions in the offspring...
- Segregation analysis in cystic fibrosis at-risk family demonstrates that the M348K CFTR mutation is a rare innocuous polymorphismMaria Rosaria D'Apice
Department of Biopathology and Imaging Diagnostic, Tor Vergata University, Via Montpellier 1, 00133 Rome, Italy
Prenat Diagn 24:981-3. 2004..We investigate whether the (paternal) M348K mutation is a benign polymorphism or a disease-causing mutation in a patient clinically affected with CF, with the second (maternal) CFTR allele identified as N1303K...
- Clinical and electroencephalographic features in patients with CDKL5 mutations: two new Italian cases and review of the literatureMaria Pintaudi
Department of Child Neuropsychiatry, G Gaslini Hospital, University of Genoa, Genoa, Italy
Epilepsy Behav 12:326-31. 2008....
- Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genesAnnick Toutain
Service de Genetique, Hopital Bretonneau, Centre Hospitalo Universitaire, Tours, France
Eur J Hum Genet 10:516-20. 2002....