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Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.
Bostwick, Bret L; McLean, Scott; Posey, Jennifer E; Streff, Haley E; Gripp, Karen W; Blesson, Alyssa; Powell-Hamilton, Nina; Tusi, Jessica; Stevenson, David A; Farrelly, Ellyn; Hudgins, Louanne; Yang, Yaping; Xia, Fan; Wang, Xia; Liu, Pengfei; Walkiewicz, Magdalena; McGuire, Marianne; Grange, Dorothy K; Andrews, Marisa V; Hummel, Marybeth; Madan-Khetarpal, Suneeta; Infante, Elena; Coban-Akdemir, Zeynep; Miszalski-Jamka, Karol; Jefferies, John L; Rosenfeld, Jill A; Emrick, Lisa; Nugent, Kimberly M; Lupski, James R; Belmont, John W; Lee, Brendan; Lalani, Seema R.
Afiliação
  • Bostwick BL; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA. bostwick@bcm.edu.
  • McLean S; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.
  • Posey JE; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, 78207, USA.
  • Streff HE; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.
  • Gripp KW; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.
  • Blesson A; Division of Medical Genetics, A.I. duPont Hospital for Children/Nemours, Wilmington, DE, USA.
  • Powell-Hamilton N; Division of Medical Genetics, A.I. duPont Hospital for Children/Nemours, Wilmington, DE, USA.
  • Tusi J; Division of Medical Genetics, A.I. duPont Hospital for Children/Nemours, Wilmington, DE, USA.
  • Stevenson DA; Division of Medical Genetics, A.I. duPont Hospital for Children/Nemours, Wilmington, DE, USA.
  • Farrelly E; Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA, USA.
  • Hudgins L; Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA, USA.
  • Yang Y; Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA, USA.
  • Xia F; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.
  • Wang X; Baylor Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.
  • Walkiewicz M; Baylor Genetics, Baylor College of Medicine, Houston, TX, USA.
  • McGuire M; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.
  • Grange DK; Baylor Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Andrews MV; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.
  • Hummel M; Baylor Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Madan-Khetarpal S; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.
  • Infante E; Baylor Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.
  • Miszalski-Jamka K; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.
  • Jefferies JL; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.
  • Rosenfeld JA; Children's Hospital of Pittsburgh of UPMC, University of Pittsburgh, Pittsburgh, PA, USA.
  • Emrick L; Children's Hospital of Pittsburgh of UPMC, University of Pittsburgh, Pittsburgh, PA, USA.
  • Nugent KM; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.
  • Lupski JR; Division of Magnetic Resonance Imaging, Silesian Center for Heart Disease, Zabrze, Poland.
  • Belmont JW; The Heart Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
  • Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.
Genome Med ; 9(1): 73, 2017 08 14.
Article em En | MEDLINE | ID: mdl-28807008
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Proteína Quinase CDC2 / Face / Cardiopatias Congênitas / Deficiência Intelectual / Mutação Tipo de estudo: Guideline / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Genome Med Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Proteína Quinase CDC2 / Face / Cardiopatias Congênitas / Deficiência Intelectual / Mutação Tipo de estudo: Guideline / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Genome Med Ano de publicação: 2017 Tipo de documento: Article