Your browser doesn't support javascript.
loading
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.
White, Janson J; Mazzeu, Juliana F; Coban-Akdemir, Zeynep; Bayram, Yavuz; Bahrambeigi, Vahid; Hoischen, Alexander; van Bon, Bregje W M; Gezdirici, Alper; Gulec, Elif Yilmaz; Ramond, Francis; Touraine, Renaud; Thevenon, Julien; Shinawi, Marwan; Beaver, Erin; Heeley, Jennifer; Hoover-Fong, Julie; Durmaz, Ceren D; Karabulut, Halil Gurhan; Marzioglu-Ozdemir, Ebru; Cayir, Atilla; Duz, Mehmet B; Seven, Mehmet; Price, Susan; Ferreira, Barbara Merfort; Vianna-Morgante, Angela M; Ellard, Sian; Parrish, Andrew; Stals, Karen; Flores-Daboub, Josue; Jhangiani, Shalini N; Gibbs, Richard A; Brunner, Han G; Sutton, V Reid; Lupski, James R; Carvalho, Claudia M B.
Afiliação
  • White JJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston TX 77030, USA.
  • Mazzeu JF; University of Brasilia, Brasilia 70910, Brazil; Robinow Syndrome Foundation, Anoka, MN 55303, USA.
  • Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston TX 77030, USA.
  • Bayram Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston TX 77030, USA.
  • Bahrambeigi V; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston TX 77030, USA; Graduate Program in Diagnostic Genetics, School of Health Professions, University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
  • Hoischen A; Department of Human Genetics, Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
  • van Bon BWM; Department of Human Genetics, Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
  • Gezdirici A; Department of Medical Genetics, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul 34303, Turkey.
  • Gulec EY; Department of Medical Genetics, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul 34303, Turkey.
  • Ramond F; Service de Génétique, CHU-Hôpital Nord, 42000 Saint-Etienne, France.
  • Touraine R; Service de Génétique, CHU-Hôpital Nord, 42000 Saint-Etienne, France.
  • Thevenon J; Inserm UMR 1231 GAD team, Genetics of Developmental Anomalies, Université de Bourgogne-Franche Comté, 21000 Dijon, France; FHU-TRANSLAD, Université de Bourgogne, 21000 CHU Dijon, France; Centre de génétique, Hôpital Couple-Enfant, CHU de Grenoble-Alpes, 38700 La Tronche, France.
  • Shinawi M; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.
  • Beaver E; Mercy Clinic-Kids Genetics, Mercy Children's Hospital St. Louis, St. Louis, MO 63141, USA.
  • Heeley J; Mercy Clinic-Kids Genetics, Mercy Children's Hospital St. Louis, St. Louis, MO 63141, USA.
  • Hoover-Fong J; Greenberg Center for Skeletal Dysplasias, McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University, Baltimore, MD 21287, USA.
  • Durmaz CD; Department of Medical Genetics, Ankara University School of Medicine, 06100 Ankara, Turkey.
  • Karabulut HG; Department of Medical Genetics, Ankara University School of Medicine, 06100 Ankara, Turkey.
  • Marzioglu-Ozdemir E; Department of Medical Genetics, Erzurum Regional and Training Hospital, 25070 Erzurum, Turkey.
  • Cayir A; Erzurum Training and Research Hospital, Department of Pediatric Endocrinology, 25070 Erzurum, Turkey.
  • Duz MB; Department of Medical Genetics, Cerrahpasa Medical School, Istanbul University, 34452 Istanbul, Turkey.
  • Seven M; Department of Medical Genetics, Cerrahpasa Medical School, Istanbul University, 34452 Istanbul, Turkey.
  • Price S; Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford OX3 7LD, UK.
  • Ferreira BM; University of Brasilia, Brasilia 70910, Brazil.
  • Vianna-Morgante AM; Department of Genetics and Evolutionary Biology, Institute of Biosciences, Sao Paulo - SP 05508-090, Brazil.
  • Ellard S; Department of Molecular Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter EX2 5DW, UK; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter EX1 2LU, UK.
  • Parrish A; Department of Molecular Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.
  • Stals K; Department of Molecular Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.
  • Flores-Daboub J; Department of Pediatric Genetics, University of Utah School of Medicine, Salt Lake City, UT 84108, USA.
  • Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
  • Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
  • Brunner HG; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Department of Clinical Genetics, GROW School for Oncology and Developmental Biology, Maastricht University Medical Center, 6202 AZ Maastricht, the
  • Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
  • Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
  • Carvalho CMB; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston TX 77030, USA. Electronic address: cfonseca@bcm.edu.
Am J Hum Genet ; 102(1): 27-43, 2018 01 04.
Article em En | MEDLINE | ID: mdl-29276006
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Urogenitais / Deformidades Congênitas dos Membros / Heterogeneidade Genética / Anormalidades Craniofaciais / Nanismo / Via de Sinalização Wnt Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Am J Hum Genet Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Urogenitais / Deformidades Congênitas dos Membros / Heterogeneidade Genética / Anormalidades Craniofaciais / Nanismo / Via de Sinalização Wnt Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Am J Hum Genet Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Estados Unidos