Your browser doesn't support javascript.
loading
Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome.
Hijazi, Hadia; Coelho, Fernanda S; Gonzaga-Jauregui, Claudia; Bernardini, Laura; Mar, Soe S; Manning, Melanie A; Hanson-Kahn, Andrea; Naidu, SakkuBai; Srivastava, Siddharth; Lee, Jennifer A; Jones, Julie R; Friez, Michael J; Alberico, Thomas; Torres, Barbara; Fang, Ping; Cheung, Sau Wai; Song, Xiaofei; Davis-Williams, Angelique; Jornlin, Carly; Wight, Patricia A; Patyal, Pankaj; Taube, Jennifer; Poretti, Andrea; Inoue, Ken; Zhang, Feng; Pehlivan, Davut; Carvalho, Claudia M B; Hobson, Grace M; Lupski, James R.
Afiliación
  • Hijazi H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Coelho FS; Programa de Pós-Graduação em Genética Departmento de Biologia Geral, UFMG, Belo Horizonte, Minas Gerais, Brazil.
  • Gonzaga-Jauregui C; Instituto René Rachou, FIOCRUZ, Belo Horizonte, Minas Gerais, Brazil.
  • Bernardini L; Regeneron Genetics Center, Regeneron Pharmaceuticals, Inc, Tarrytown, New York.
  • Mar SS; Medical Genetics Division, IRCCS "Casa Sollievo della Sofferenza" Foundation, San Giovanni Rotondo (FG), Italy.
  • Manning MA; Department of Neurology, Washington University School of Medicine, St. Louis, Missouri.
  • Hanson-Kahn A; Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Palo Alto, California.
  • Naidu S; Department of Pathology, Stanford University School of Medicine, Palo Alto, California.
  • Srivastava S; Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Palo Alto, California.
  • Lee JA; Department of Genetics, Stanford University School of Medicine, Palo Alto, California.
  • Jones JR; Departments of Neurology and Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland.
  • Friez MJ; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland.
  • Alberico T; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.
  • Torres B; Molecular Diagnostic Laboratory, Greenwood Genetic Center, Greenwood, South Carolina.
  • Fang P; Molecular Diagnostic Laboratory, Greenwood Genetic Center, Greenwood, South Carolina.
  • Cheung SW; Molecular Diagnostic Laboratory, Greenwood Genetic Center, Greenwood, South Carolina.
  • Song X; Nemours Biomedical Research, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware.
  • Davis-Williams A; Medical Genetics Division, IRCCS "Casa Sollievo della Sofferenza" Foundation, San Giovanni Rotondo (FG), Italy.
  • Jornlin C; Clinical Genomics, WuXi NextCODE, Cambridge, Massachusetts.
  • Wight PA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Patyal P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Taube J; Nemours Biomedical Research, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware.
  • Poretti A; Nemours Biomedical Research, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware.
  • Inoue K; Department of Physiology and Biophysics, College of Medicine, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
  • Zhang F; Department of Physiology and Biophysics, College of Medicine, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
  • Pehlivan D; Nemours Biomedical Research, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware.
  • Carvalho CMB; Departments of Neurology and Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland.
  • Hobson GM; Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Japan.
  • Lupski JR; State Key Laboratory of Genetic Engineering at School of Life Sciences, Obstetrics and Gynecology Hospital, Institute of Reproduction and Development, Fudan University, Shanghai, China.
Hum Mutat ; 41(1): 150-168, 2020 01.
Article en En | MEDLINE | ID: mdl-31448840
Asunto(s)
Palabras clave
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Deleción Cromosómica / Carácter Cuantitativo Heredable / Predisposición Genética a la Enfermedad / Cromosomas Humanos X / Estudios de Asociación Genética / Enfermedades del Sistema Nervioso Tipo de estudio: Prognostic_studies Límite: Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Deleción Cromosómica / Carácter Cuantitativo Heredable / Predisposición Genética a la Enfermedad / Cromosomas Humanos X / Estudios de Asociación Genética / Enfermedades del Sistema Nervioso Tipo de estudio: Prognostic_studies Límite: Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article Pais de publicación: Estados Unidos