Stefania Gimelli

Summary

Publications

  1. 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
  2. ncbi request reprint A t(7;12) balanced translocation with breakpoints overlapping those of the Williams-Beuren and 12q14 microdeletion syndromes
    Stefania Gimelli
    Biologia Generale e Genetica Medica, Universita di Pavia and IRCCS C Mondino, Pavia, Italy
    Am J Med Genet A 152:1285-94. 2010
  3. 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
  4. pmc Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports
    Laura Bernardini
    Casa Sollievo della Sofferenza Hospital, IRCCS, S San Giovanni Rotondo, Italy
    Orphanet J Rare Dis 4:25. 2009
  5. pmc 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
    Stefania Gimelli
    Biologia Generale e Genetica Medica, Università di Pavia, Pavia, Italy
    Mol Cancer 8:52. 2009
  6. ncbi request reprint A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation
    Tiziano Pramparo
    Biologia Generale e Genetica Medica, Universita di Pavia, Pavia, Italy
    Am J Med Genet A 146:1754-60. 2008
  7. pmc Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract
    Stefania Gimelli
    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
  8. ncbi request reprint Narrowing the deleted region associated with the 15q21 syndrome
    Tiziano Pramparo
    Biologia Generale e Genetica Medica, Universita di Pavia, Via Forlanini, 14 27100 Pavia, Italy
    Eur J Med Genet 48:346-52. 2005

Collaborators

Detail Information

Publications9

  1. 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:..
  2. ncbi request reprint A t(7;12) balanced translocation with breakpoints overlapping those of the Williams-Beuren and 12q14 microdeletion syndromes
    Stefania Gimelli
    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...
  3. 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...
  4. pmc Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports
    Laura Bernardini
    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...
  5. pmc 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
    Stefania Gimelli
    Biologia Generale e Genetica Medica, Università di Pavia, Pavia, Italy
    Mol Cancer 8:52. 2009
    ..We report a paternally inherited balanced translocation t(8;22) in a proposita with dysgerminoma...
  6. ncbi request reprint A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation
    Tiziano Pramparo
    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...
  7. pmc Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract
    Stefania Gimelli
    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...
  8. ncbi request reprint Narrowing the deleted region associated with the 15q21 syndrome
    Tiziano Pramparo
    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...