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Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.
Marchegiani, Shannon; Davis, Taylor; Tessadori, Federico; van Haaften, Gijs; Brancati, Francesco; Hoischen, Alexander; Huang, Haigen; Valkanas, Elise; Pusey, Barbara; Schanze, Denny; Venselaar, Hanka; Vulto-van Silfhout, Anneke T; Wolfe, Lynne A; Tifft, Cynthia J; Zerfas, Patricia M; Zambruno, Giovanna; Kariminejad, Ariana; Sabbagh-Kermani, Farahnaz; Lee, Janice; Tsokos, Maria G; Lee, Chyi-Chia R; Ferraz, Victor; da Silva, Eduarda Morgana; Stevens, Cathy A; Roche, Nathalie; Bartsch, Oliver; Farndon, Peter; Bermejo-Sanchez, Eva; Brooks, Brian P; Maduro, Valerie; Dallapiccola, Bruno; Ramos, Feliciano J; Chung, Hon-Yin Brian; Le Caignec, Cédric; Martins, Fabiana; Jacyk, Witold K; Mazzanti, Laura; Brunner, Han G; Bakkers, Jeroen; Lin, Shuo; Malicdan, May Christine V; Boerkoel, Cornelius F; Gahl, William A; de Vries, Bert B A; van Haelst, Mieke M; Zenker, Martin; Markello, Thomas C.
Afiliação
  • Marchegiani S; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA; Department of Pediatrics, Walter Reed National Military Medical Center, Bethesda, MD 20892, USA.
  • Davis T; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
  • Tessadori F; Hubrecht Institute-KNAW and University Medical Centre Utrecht, 3584 CT Utrecht, the Netherlands.
  • van Haaften G; Department of Medical Genetics, University Medical Center Utrecht, 3508 AB Utrecht, the Netherlands.
  • Brancati F; Department of Medical, Oral, and Biotechnological Sciences, University of G. d' Annunzio Chieti and Pescara, Chieti 66100, Italy.
  • Hoischen A; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.
  • Huang H; Department of Molecular, Cell, and Developmental Biology, University of California, Los Angeles, Los Angeles, CA 90095, USA.
  • Valkanas E; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
  • Pusey B; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
  • Schanze D; Medizinische Fakultät und Universitätsklinikum Magdeburg, Institute of Human Genetics, 39120 Magdeburg, Germany.
  • Venselaar H; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.
  • Vulto-van Silfhout AT; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.
  • Wolfe LA; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute/NIH, Bethesda, MD 20892, USA.
  • Tifft CJ; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute/NIH, Bethesda, MD 20892, USA.
  • Zerfas PM; Office of Research Services, Division of Veterinary Resources, NIH, Bethesda, MD 20892, USA.
  • Zambruno G; Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata IDI-IRCCS, Rome 00167, Italy.
  • Kariminejad A; Kariminejad-Najmabadi Pathology and Genetics Center, Tehran 14667, Iran.
  • Sabbagh-Kermani F; Kerman University of Medical Sciences, Kerman 76175, Iran.
  • Lee J; National Institute of Dental and Craniofacial Research, NIH, Bethesda, MD 20892, USA.
  • Tsokos MG; Laboratory of Pathology, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
  • Lee CC; Laboratory of Pathology, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
  • Ferraz V; Departamento de Genetica, Faculdade de Medicina de Ribeirao Preto, Universidade de Sao Paulo, Sao Paulo 14049, Brazil.
  • da Silva EM; Departamento de Genetica, Faculdade de Medicina de Ribeirao Preto, Universidade de Sao Paulo, Sao Paulo 14049, Brazil.
  • Stevens CA; Department of Medical Genetics, T.C. Thompson Children's Hospital, Chattanooga, TN 37403, USA.
  • Roche N; Department of Plastic and Reconstructive Surgery, University Hospital of Ghent, Ghent 9000, Belgium.
  • Bartsch O; Institute of Human Genetics, Johannes Gutenberg University, Mainz 55131, Germany.
  • Farndon P; Clinical Genetics Unit, Birmingham Women's Healthcare Trust, Birmingham B15 2TG, UK.
  • Bermejo-Sanchez E; ECEMC (Spanish Collaborative Study of Congenital Malformations), CIAC, Instituto de Investigación de Enfermedades Raras (IIER), Instituto de Salud Carlos III; and CIBER de Enfermedades Raras (CIBERER)-U724, Madrid 28029, Spain.
  • Brooks BP; Unit on Pediatric, Developmental, and Genetic Eye Disease, National Eye Institute, NIH, Bethesda, MD 20892, USA.
  • Maduro V; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
  • Dallapiccola B; Department of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome 00165, Italy.
  • Ramos FJ; Unidad de Genética Médica, Servicio de Pediatría, GCV-CIBERER Hospital Clínico Universitario "Lozano Blesa," Facultad de Medicina, Universidad de Zaragoza, 50009 Zaragoza, Spain.
  • Chung HY; Department of Paediatrics and Adolescent Medicine, Centre for Genomic Sciences, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.
  • Le Caignec C; Service de genetique medicale, CHU Nantes, 44093 Nantes, France and Inserm, UMR957, Faculté de Médecine, 44093 Nantes, France.
  • Martins F; Special Care Dentistry Center, Department of Stomatology, School of Dentistry, University of São Paulo, São Paulo 05508-070, Brazil.
  • Jacyk WK; Department of Dermatology, University of Pretoria, Pretoria 0028, Republic of South Africa.
  • Mazzanti L; Department of Pediatrics, S. Orsola-Malpighi Hospital University of Bologna, 40138 Bologna, Italy.
  • Brunner HG; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, PO Box 5800, 6202AZ Maastricht, the Netherlands.
  • Bakkers J; Hubrecht Institute-KNAW and University Medical Centre Utrecht, 3584 CT Utrecht, the Netherlands.
  • Lin S; Department of Molecular, Cell, and Developmental Biology, University of California, Los Angeles, Los Angeles, CA 90095, USA.
  • Malicdan MC; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute/NIH, Bethesda, MD 20892, USA. Electronic address: malicdanm@mail.nih.gov.
  • Boerkoel CF; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
  • Gahl WA; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute/NIH, Bethesda, MD 20892, USA. Electronic address: gahlw@helix.nih.gov.
  • de Vries BB; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.
  • van Haelst MM; Department of Medical Genetics, University Medical Center Utrecht, 3508 AB Utrecht, the Netherlands.
  • Zenker M; Medizinische Fakultät und Universitätsklinikum Magdeburg, Institute of Human Genetics, 39120 Magdeburg, Germany.
  • Markello TC; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
Am J Hum Genet ; 97(1): 99-110, 2015 Jul 02.
Article em En | MEDLINE | ID: mdl-26119818
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Proteínas Repressoras / Anormalidades da Pele / Anormalidades Múltiplas / Modelos Moleculares / Anormalidades do Olho / Proteína 1 Relacionada a Twist / Doenças Palpebrais / Hirsutismo / Hipertelorismo Tipo de estudo: Prognostic_studies Limite: Animals / Humans Idioma: En Revista: Am J Hum Genet Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
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PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Proteínas Repressoras / Anormalidades da Pele / Anormalidades Múltiplas / Modelos Moleculares / Anormalidades do Olho / Proteína 1 Relacionada a Twist / Doenças Palpebrais / Hirsutismo / Hipertelorismo Tipo de estudo: Prognostic_studies Limite: Animals / Humans Idioma: En Revista: Am J Hum Genet Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Estados Unidos