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Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.
Zarate, Yuri A; Smith-Hicks, Constance L; Greene, Carol; Abbott, Mary-Alice; Siu, Victoria M; Calhoun, Amy R U L; Pandya, Arti; Li, Chumei; Sellars, Elizabeth A; Kaylor, Julie; Bosanko, Katherine; Kalsner, Louisa; Basinger, Alice; Slavotinek, Anne M; Perry, Hazel; Saenz, Margarita; Szybowska, Marta; Wilson, Louise C; Kumar, Ajith; Brain, Caroline; Balasubramanian, Meena; Dubbs, Holly; Ortiz-Gonzalez, Xilma R; Zackai, Elaine; Stein, Quinn; Powell, Cynthia M; Schrier Vergano, Samantha; Britt, Allison; Sun, Angela; Smith, Wendy; Bebin, E Martina; Picker, Jonathan; Kirby, Amelia; Pinz, Hailey; Bombei, Hannah; Mahida, Sonal; Cohen, Julie S; Fatemi, Ali; Vernon, Hilary J; McClellan, Rebecca; Fleming, Leah R; Knyszek, Brittney; Steinraths, Michelle; Velasco Gonzalez, Cruz; Beck, Anita E; Golden-Grant, Katie L; Egense, Alena; Parikh, Aditi; Raimondi, Chantalle; Angle, Brad.
Afiliação
  • Zarate YA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
  • Smith-Hicks CL; Division of Neurogenetics, Department of Neurology, Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, Maryland.
  • Greene C; Department of Pediatrics, University of Maryland Baltimore, Baltimore, Maryland.
  • Abbott MA; Department of Pediatrics, Baystate Medical Center, Springfield, Massachusetts.
  • Siu VM; Division of Medical Genetics, Department of Pediatrics, University of Western Ontario, London, Ontario, Canada.
  • Calhoun ARUL; Division of Medical Genetics, Department of Pediatrics, University of Iowa, Iowa City, Iowa.
  • Pandya A; Department of Pediatrics, Division of Genetics and Metabolism, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.
  • Li C; Clinical Genetics Program, McMaster University Medical Center, Hamilton, Ontario, Canada.
  • Sellars EA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
  • Kaylor J; InformedDNA, St. Petersburg, Florida.
  • Bosanko K; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
  • Kalsner L; Departments of Neurology and Pediatrics, Connecticut Children's Medical Center and University of Connecticut Health Center, Farmington, Connecticut.
  • Basinger A; Cook Children's Physician Network, Fort Worth, Texas.
  • Slavotinek AM; Division of Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California.
  • Perry H; Division of Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California.
  • Saenz M; Children's Hospital Colorado, Aurora, Colorado.
  • Szybowska M; Clinical Genetics Program, McMaster University Medical Center, Hamilton, Ontario, Canada.
  • Wilson LC; Department of Genetics, Great Ormond Street for Children NHS Foundation Trust, London, UK.
  • Kumar A; Department of Genetics, Great Ormond Street for Children NHS Foundation Trust, London, UK.
  • Brain C; Department of Endocrinology, Great Ormond Street for Children NHS Foundation Trust, London, UK.
  • Balasubramanian M; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
  • Dubbs H; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Ortiz-Gonzalez XR; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Zackai E; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Stein Q; Divisions of Pediatric Neurology and Genetics, Sanford Children's Specialty Clinic, Sanford Children's Hospital, Sioux Falls, South Dakota.
  • Powell CM; Department of Pediatrics, Division of Genetics and Metabolism, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.
  • Schrier Vergano S; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia.
  • Britt A; Division of Medical Genetics, Department of Pediatrics, University of Texas Medical Branch, Galveston, Texas.
  • Sun A; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington.
  • Smith W; Seattle Children's Hospital, Seattle, Washington.
  • Bebin EM; Department of Pediatrics, The Barbara Bush Children's Hospital, Maine Medical Center, Portland, Maine.
  • Picker J; Department of Neurology, University of Alabama at Birmingham, Birmingham, Alabama.
  • Kirby A; Boston Children's Hospital, Boston, Massachusetts.
  • Pinz H; Division of Medical Genetics, SSM Health Cardinal Glennon Children's Hospital, Saint Louis, Missouri.
  • Bombei H; Division of Medical Genetics, SSM Health Cardinal Glennon Children's Hospital, Saint Louis, Missouri.
  • Mahida S; Division of Medical Genetics, Department of Pediatrics, University of Iowa, Iowa City, Iowa.
  • Cohen JS; Division of Neurogenetics, Department of Neurology, Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, Maryland.
  • Fatemi A; Division of Neurogenetics, Department of Neurology, Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, Maryland.
  • Vernon HJ; Division of Neurogenetics, Department of Neurology, Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, Maryland.
  • McClellan R; Division of Neurogenetics, Department of Neurology, Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, Maryland.
  • Fleming LR; Division of Neurogenetics, Department of Neurology, Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, Maryland.
  • Knyszek B; Clinical Genetics and Genomics, St. Luke's Children's Hospital, Boise, Idaho.
  • Steinraths M; Clinical Genetics and Genomics, St. Luke's Children's Hospital, Boise, Idaho.
  • Velasco Gonzalez C; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
  • Beck AE; Biostatistics Program, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
  • Golden-Grant KL; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington.
  • Egense A; Seattle Children's Hospital, Seattle, Washington.
  • Parikh A; Seattle Children's Hospital, Seattle, Washington.
  • Raimondi C; Department of Pediatrics, University of Maryland Baltimore, Baltimore, Maryland.
  • Angle B; University of Toledo Department of Pediatrics, Toledo, Ohio.
Am J Med Genet A ; 176(4): 925-935, 2018 04.
Article em En | MEDLINE | ID: mdl-29436146
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Fatores de Transcrição / Predisposição Genética para Doença / Proteínas de Ligação à Região de Interação com a Matriz / Estudos de Associação Genética / Genótipo Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Fatores de Transcrição / Predisposição Genética para Doença / Proteínas de Ligação à Região de Interação com a Matriz / Estudos de Associação Genética / Genótipo Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de publicação: Estados Unidos