Silvia Russo

Summary

Affiliation: Istituto Auxologico Italiano
Country: Italy

Publications

  1. ncbi request reprint A fluorescent method for detecting low-grade 11patUPD mosaicism in Beckwith-Wiedemann syndrome
    Silvia Russo
    Laboratory of Molecular Biology, Istituto Auxologico Italiano, Milan 20135, Italy
    Mol Cell Probes 17:295-9. 2003
  2. pmc Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients
    Silvia Russo
    Laboratory of Medical Cytogenetics and Molecular Genetics, Istituto Auxologico Italiano, Milan, Italy
    Eur J Hum Genet 20:734-41. 2012
  3. pmc Genetic investigations on 8 patients affected by ring 20 chromosome syndrome
    Daniela Giardino
    Laboratorio di Citogenetica Medica e Genetica Molecolare, IRCCS Istituto Auxologico Italiano Milan, Italy
    BMC Med Genet 11:146. 2010
  4. doi request reprint Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes
    S Russo
    Molecular Genetics Laboratory, Istituto Auxologico Italiano, Via Zucchi 18 20095 Cusano Milanino MI, Milan, Italy
    Neurogenetics 10:241-50. 2009
  5. pmc Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome
    Cristina Gervasini
    Medical Genetics, Department of Health Sciences, Universita degli Studi di Milano, Milan, Italy
    BMC Med Genet 14:41. 2013
  6. doi request reprint Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum
    Cristina Gervasini
    Department of Health Sciences, Medical Genetics, Universita degli Studi di Milano, Milan, Italy
    Am J Med Genet A 161:2909-19. 2013
  7. ncbi request reprint Evaluation of autism traits in Angelman syndrome: a resource to unfold autism genes
    Maria Teresa Bonati
    Clinic of Medical Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy
    Neurogenetics 8:169-78. 2007
  8. doi request reprint Functional characterization of CDK5 and CDK5R1 mutations identified in patients with non-syndromic intellectual disability
    Silvia Moncini
    Dipartimento di Biotecnologie mediche e Medicina traslazionale, Universita degli Studi di Milano, Milan, Italy
    J Hum Genet 61:283-93. 2016
  9. pmc Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly
    Maila Giannandrea
    Dulbecco Telethon Institute at Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy
    Am J Hum Genet 86:185-95. 2010
  10. doi request reprint 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 literature
    Chiara Castronovo
    Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milano, Italy
    Am J Med Genet A 167:221-30. 2015

Collaborators

Detail Information

Publications24

  1. ncbi request reprint A fluorescent method for detecting low-grade 11patUPD mosaicism in Beckwith-Wiedemann syndrome
    Silvia 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...
  2. pmc Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients
    Silvia 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...
  3. pmc Genetic investigations on 8 patients affected by ring 20 chromosome syndrome
    Daniela 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...
  4. doi request reprint Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes
    S 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...
  5. pmc Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome
    Cristina 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...
  6. doi request reprint Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum
    Cristina Gervasini
    Department of Health Sciences, Medical Genetics, Universita degli Studi di Milano, Milan, Italy
    Am J Med Genet A 161:2909-19. 2013
    ....
  7. ncbi request reprint Evaluation of autism traits in Angelman syndrome: a resource to unfold autism genes
    Maria 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...
  8. doi request reprint Functional characterization of CDK5 and CDK5R1 mutations identified in patients with non-syndromic intellectual disability
    Silvia 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. ..
  9. pmc Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly
    Maila Giannandrea
    Dulbecco Telethon Institute at Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy
    Am J Hum Genet 86:185-95. 2010
    ....
  10. doi request reprint 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 literature
    Chiara Castronovo
    Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milano, Italy
    Am J Med Genet A 167:221-30. 2015
    ....
  11. ncbi request reprint Prenatal/neonatal pathology in two cases of Cornelia de Lange syndrome harboring novel mutations of NIPBL
    Faustina 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...
  12. pmc Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotype
    Palma 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...
  13. ncbi request reprint Small familial supernumerary ring chromosome 2: FISH characterization and genotype-phenotype correlation
    Daniela 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...
  14. ncbi request reprint Mutations and novel polymorphisms in coding regions and UTRs of CDK5R1 and OMG genes in patients with non-syndromic mental retardation
    Marco 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...
  15. doi request reprint Role of UBE3A and ATP10A genes in autism susceptibility region 15q11-q13 in an Italian population: a positive replication for UBE3A
    Guia 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...
  16. doi request reprint Electroclinical pattern in MECP2 duplication syndrome: eight new reported cases and review of literature
    Aglaia 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...
  17. doi request reprint Complex rearrangement involving 9p deletion and duplication in a syndromic patient: genotype/phenotype correlation and review of the literature
    Maria 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...
  18. doi request reprint Think about it: FMR1 gene mosaicism
    Francesca 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. ..
  19. ncbi request reprint Mechanisms causing imprinting defects in familial Beckwith-Wiedemann syndrome with Wilms' tumour
    Angela 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...
  20. pmc Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy
    Maria 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...
  21. ncbi request reprint Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions
    Giorgio 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...
  22. ncbi request reprint Segregation analysis in cystic fibrosis at-risk family demonstrates that the M348K CFTR mutation is a rare innocuous polymorphism
    Maria 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...
  23. ncbi request reprint Clinical and electroencephalographic features in patients with CDKL5 mutations: two new Italian cases and review of the literature
    Maria Pintaudi
    Department of Child Neuropsychiatry, G Gaslini Hospital, University of Genoa, Genoa, Italy
    Epilepsy Behav 12:326-31. 2008
    ....
  24. ncbi request reprint Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes
    Annick Toutain
    Service de Genetique, Hopital Bretonneau, Centre Hospitalo Universitaire, Tours, France
    Eur J Hum Genet 10:516-20. 2002
    ....