Produção Nacional
Revisado por pares
Deletions encompassing 1q41q42.1 and clinical features of autosomal dominant Robinow syndrome
2010; Wiley; Volume: 77; Issue: 4 Linguagem: Inglês
10.1111/j.1399-0004.2009.01355.x
ISSN1399-0004
AutoresJuliana F. Mazzeu, AM Vianna‐Morgante, Ana Cristina Victorino Krepischi, Astrid Oudakker, Carla Rosenberg, Károly Szuhai, James McGill, J MacCraughan, Hans van Bokhoven, HG Brunner,
Tópico(s)Bioactive Compounds in Plants
ResumoClinical GeneticsVolume 77, Issue 4 p. 404-407 Deletions encompassing 1q41q42.1 and clinical features of autosomal dominant Robinow syndrome JF Mazzeu, JF Mazzeu Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, Brazil Robinow Syndrome Foundation, Anoka, MN, USA Departamento de Genética e Morfologia, Instituto de Ciências Biológicas, Universidade de Brasília, BrazilSearch for more papers by this authorAM Vianna-Morgante, Corresponding Author AM Vianna-Morgante Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, BrazilAngela M. Vianna-MorganteDepartamento de Genética e Biologia EvolutivaInstituto de Biociências, Universidade de São PauloC.P.1146105422-970 São PauloBrazilTel.: +55 11 30917591Fax: +55 11 30917553e-mail: [email protected]Search for more papers by this authorACV Krepischi, ACV Krepischi Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, Brazil Robinow Syndrome Foundation, Anoka, MN, USASearch for more papers by this authorA Oudakker, A Oudakker Department of Cognitive Neurosciences, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, The NetherlandsSearch for more papers by this authorC Rosenberg, C Rosenberg Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, BrazilSearch for more papers by this authorK Szuhai, K Szuhai Department of Molecular Cell Biology, Leiden University Medical Center, Leiden, The NetherlandsSearch for more papers by this authorJ McGill, J McGill Department of Metabolic Medicine, Royal Children's Hospital, Brisbane, Queensland, AustraliaSearch for more papers by this authorJ MacCraughan, J MacCraughan Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland, AustraliaSearch for more papers by this authorH Van Bokhoven, H Van Bokhoven Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The NetherlandsSearch for more papers by this authorHG Brunner, HG Brunner Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The NetherlandsSearch for more papers by this author JF Mazzeu, JF Mazzeu Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, Brazil Robinow Syndrome Foundation, Anoka, MN, USA Departamento de Genética e Morfologia, Instituto de Ciências Biológicas, Universidade de Brasília, BrazilSearch for more papers by this authorAM Vianna-Morgante, Corresponding Author AM Vianna-Morgante Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, BrazilAngela M. Vianna-MorganteDepartamento de Genética e Biologia EvolutivaInstituto de Biociências, Universidade de São PauloC.P.1146105422-970 São PauloBrazilTel.: +55 11 30917591Fax: +55 11 30917553e-mail: [email protected]Search for more papers by this authorACV Krepischi, ACV Krepischi Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, Brazil Robinow Syndrome Foundation, Anoka, MN, USASearch for more papers by this authorA Oudakker, A Oudakker Department of Cognitive Neurosciences, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, The NetherlandsSearch for more papers by this authorC Rosenberg, C Rosenberg Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, BrazilSearch for more papers by this authorK Szuhai, K Szuhai Department of Molecular Cell Biology, Leiden University Medical Center, Leiden, The NetherlandsSearch for more papers by this authorJ McGill, J McGill Department of Metabolic Medicine, Royal Children's Hospital, Brisbane, Queensland, AustraliaSearch for more papers by this authorJ MacCraughan, J MacCraughan Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland, AustraliaSearch for more papers by this authorH Van Bokhoven, H Van Bokhoven Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The NetherlandsSearch for more papers by this authorHG Brunner, HG Brunner Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The NetherlandsSearch for more papers by this author First published: 16 March 2010 https://doi.org/10.1111/j.1399-0004.2009.01355.xCitations: 13Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL References 1 Shaffer LG, Theisen A, Bejjani BA et al. The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome. Genet Med 2007: 9: 607– 616. 2 Mazzeu JF, Krepischi-Santos AC, Rosenberg C et al. Chromosome abnormalities in two patients with features of autosomal dominant Robinow syndrome. Am J Med Genet A 2007: 143: 1790– 1795. 3 Mazzeu JF, Pardono E, Vianna-Morgante AM et al. Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome. Am J Med Genet A 2007: 143: 320– 325. 4 Afzal AR, Rajab A, Fenske C et al. Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2. Nat Genet 2000: 25: 419– 422. 5 Van Bokhoven H, Celli J, Kayserili H et al. Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome. Nat Genet 2000: 25: 423– 426. 6 Rosenberg C, Knijnenburg J, Bakker E et al. Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents. J Med Genet 2006: 43: 180– 186. 7 Kantarci S, Casavant D, Prada C et al. Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): a possible locus for Fryns syndrome. Am J Med Genet A 2006: 140: 17– 23. 8 Rice GM, Qi Z, Selzer R et al. Microdissection-based high-resolution genomic array analysis of two patients with cytogenetically identical interstitial deletions of chromosome 1q but distinct clinical phenotypes. Am J Med Genet A 2006: 140: 1637– 1643. 9 Slavotinek AM, Moshrefi A, Davis R et al. Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH- critical regions and sequencing of a candidate gene at 15q26.1–15q26.2. Eur J Hum Genet 2006: 14: 999– 1008. 10 Boland E, Clayton-Smith J, Woo VG et al. Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum. Am J Hum Genet 2007: 81: 292– 303. 11 Hill AD, Chang BS, Hill RS et al. A 2-Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome. Am J Med Genet A 2007: 143: 1692– 1698. 12 Van Bon BW, Koolen DA, Borgatti R et al. Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis. J Med Genet 2008: 45: 346– 354. 13 Blackwood DHR, Fordyce A, Walker MT et al. Schizophrenia and affective disorders—cosegregation with a translocation at chromosome 1q42 that directly disrupts brain-expressed genes: clinical and P300 findings in a family. Am J Hum Genet 2001: 69: 428– 433. 14 Muir WJ, Pickard BS, Blackwood DH. Disrupted-in- Schizophrenia-1. Curr Psychiatry Rep 2008: 10: 140– 147. 15 Levy-Lahad E, Wasco W, Poorkaj P et al. Candidate gene for the chromosome 1 familial Alzheimer's disease locus. Science 1995: 18: 973– 977. 16 Tao W, Pennica D, Xu L et al. Wrch-1, a novel member of the Rho gene family that is regulated by Wnt-1. Genes Dev 2001: 15: 1796– 1807. Citing Literature Volume77, Issue4April 2010Pages 404-407 ReferencesRelatedInformation
Referência(s)