Giorgio Gimelli

Summary

Publications

  1. pmc Paradoxical worsening of seizure activity with pregabalin in an adult with isodicentric 15 (IDIC-15) syndrome involving duplications of the GABRB3, GABRA5 and GABRG3 genes
    Alessandro Di Rocco
    New York University School of Medicine, New York, NY, USA
    BMC Neurol 13:43. 2013
  2. pmc Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems
    Valeria Capra
    Laboratorio di Citogenetica, Istituto G, Gaslini, Genova, Italy
    BMC Med Genet 13:93. 2012
  3. pmc Parental imbalances involving chromosomes 15q and 22q may predispose to the formation of de novo pathogenic microdeletions and microduplications in the offspring
    Valeria Capra
    Unità Operativa di Neurochirurgia, Istituto Giannina Gaslini, Genova, Italy
    PLoS ONE 8:e57910. 2013
  4. pmc Identification of an interstitial 18p11.32-p11.31 duplication including the EMILIN2 gene in a family with porokeratosis of Mibelli
    Corrado Occella
    Unita Operativa di Dermatologia, Istituto Giannina Gaslini, Genova, Italy
    PLoS ONE 8:e61311. 2013
  5. doi request reprint Interstitial 2q24.3 deletion including SCN2A and SCN3A genes in a patient with autistic features, psychomotor delay, microcephaly and no history of seizures
    Maria Elena Celle
    U O e Cattedra di Neuropsichiatria Infantile, Istituto G Gaslini, Genova, Italy
    Gene 532:294-6. 2013
  6. doi request reprint RORB gene and 9q21.13 microdeletion: report on a patient with epilepsy and mild intellectual disability
    Maria Giuseppina Baglietto
    Centro Epilessie, UO Neuropsichiatria Infantile, Istituto Giannina Gaslini, Genova, Italy
    Eur J Med Genet 57:44-6. 2014
  7. ncbi request reprint A de novo balanced translocation t(7;12)(p21.2;p12.3) in a patient with Saethre-Chotzen-like phenotype downregulates TWIST and an osteoclastic protein-tyrosine phosphatase, PTP-oc
    Patrizia De Marco
    U O Neurochirurgia, Istituto G Gaslini, Genova, Italy
    Eur J Med Genet 54:e478-83. 2011
  8. ncbi request reprint Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis
    Giorgio Gimelli
    Laboratorio di Citogenetica, Istituto G Gaslini, Genova, Italy
    Eur J Hum Genet 15:76-80. 2007
  9. pmc Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children
    Cristina Cuoco
    Laboratorio di Citogenetica, Istituto G Gaslini, 16147 Genova, Italy
    Orphanet J Rare Dis 6:12. 2011
  10. ncbi request reprint A 46,X,inv(Y) young woman with gonadal dysgenesis and gonadoblastoma: cytogenetics, molecular, and methylation studies
    Giorgio Gimelli
    Laboratorio di Citogenetica, Istituto G Gaslini, 16148 Genoa, Italy
    Am J Med Genet A 140:40-5. 2006

Collaborators

  • Elisa Tassano
  • Stefania Gimelli
  • Cristina Cuoco
  • Orsetta Zuffardi
  • Roberto Giorda
  • Nazzareno Dimasi
  • Frederique Bena
  • Renata Bocciardi
  • Valeria Capra
  • Samantha Mascelli
  • Maria Giuseppina Baglietto
  • Maria Elena Celle
  • Paolo Nozza
  • Alessandro Di Rocco
  • Corrado Occella
  • Alessandro Raso
  • Patrizia De Marco
  • Patrizia Ronchetto
  • Giulia Prato
  • Gianluca Caridi
  • Margherita Mancardi
  • Roger P Rossi
  • Maria Luisa Garre
  • Simona Porta
  • Maja Di Rocco
  • Frédérique Sloan-Béna
  • Carlotta Vaccari
  • Lara Bricco
  • Pietro Di Rocco
  • Dario Bleidl
  • Carl Bazil
  • Andrea Loggini
  • Andrea Rossi
  • Michela Stagnaro
  • Marisol Mirabelli-Badenier
  • Silvana Beri
  • Marco Pavanello
  • Armando Cama
  • Ave Maria Baffico
  • Maurizia Baldi
  • Elisa Merello

Detail Information

Publications10

  1. pmc Paradoxical worsening of seizure activity with pregabalin in an adult with isodicentric 15 (IDIC-15) syndrome involving duplications of the GABRB3, GABRA5 and GABRG3 genes
    Alessandro Di Rocco
    New York University School of Medicine, New York, NY, USA
    BMC Neurol 13:43. 2013
    ..There are however no specific guidelines for the treatment of the seizures and it is unknown whether drugs that affect the GABAergic system have a different effect in IDIC-15 seizures...
  2. pmc Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems
    Valeria Capra
    Laboratorio di Citogenetica, Istituto G, Gaslini, Genova, Italy
    BMC Med Genet 13:93. 2012
    ..abstract:..
  3. pmc Parental imbalances involving chromosomes 15q and 22q may predispose to the formation of de novo pathogenic microdeletions and microduplications in the offspring
    Valeria Capra
    Unità Operativa di Neurochirurgia, Istituto Giannina Gaslini, Genova, Italy
    PLoS ONE 8:e57910. 2013
    ..21 deletions in the two respective parents might have increased the risk of rearrangements in their children. This study highlights the difficulty to make genetic counseling and predict the phenotypic consequences in these situations...
  4. pmc Identification of an interstitial 18p11.32-p11.31 duplication including the EMILIN2 gene in a family with porokeratosis of Mibelli
    Corrado Occella
    Unita Operativa di Dermatologia, Istituto Giannina Gaslini, Genova, Italy
    PLoS ONE 8:e61311. 2013
    ..Our results could contribute to a better understanding of the pathogenesis of porokeratosis of Mibelli...
  5. doi request reprint Interstitial 2q24.3 deletion including SCN2A and SCN3A genes in a patient with autistic features, psychomotor delay, microcephaly and no history of seizures
    Maria Elena Celle
    U O e Cattedra di Neuropsichiatria Infantile, Istituto G Gaslini, Genova, Italy
    Gene 532:294-6. 2013
    ....
  6. doi request reprint RORB gene and 9q21.13 microdeletion: report on a patient with epilepsy and mild intellectual disability
    Maria Giuseppina Baglietto
    Centro Epilessie, UO Neuropsichiatria Infantile, Istituto Giannina Gaslini, Genova, Italy
    Eur J Med Genet 57:44-6. 2014
    ..We hypothesize its role in producing the phenotype of our patient and compare this case with other ones previously reported in the literature to better identify a genotype-phenotype correlation. ..
  7. ncbi request reprint A de novo balanced translocation t(7;12)(p21.2;p12.3) in a patient with Saethre-Chotzen-like phenotype downregulates TWIST and an osteoclastic protein-tyrosine phosphatase, PTP-oc
    Patrizia De Marco
    U O Neurochirurgia, Istituto G Gaslini, Genova, Italy
    Eur J Med Genet 54:e478-83. 2011
    ....
  8. ncbi request reprint Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis
    Giorgio Gimelli
    Laboratorio di Citogenetica, Istituto G Gaslini, Genova, Italy
    Eur J Hum Genet 15:76-80. 2007
    ..This mutation could have some role in impeding the normal function of the SRY protein...
  9. pmc Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children
    Cristina Cuoco
    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...
  10. ncbi request reprint A 46,X,inv(Y) young woman with gonadal dysgenesis and gonadoblastoma: cytogenetics, molecular, and methylation studies
    Giorgio Gimelli
    Laboratorio di Citogenetica, Istituto G Gaslini, 16148 Genoa, Italy
    Am J Med Genet A 140:40-5. 2006
    ..The proposita's inverted Y chromosome appears to have originated from paternal Y chromosome instability. The patient's female phenotype could be due to SRY CpG methylation-mediated positional effects (PEV)...