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Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders.
Reis, Linda M; Sorokina, Elena A; Dudakova, Lubica; Moravikova, Jana; Skalicka, Pavlina; Malinka, Frantisek; Seese, Sarah E; Thompson, Samuel; Bardakjian, Tanya; Capasso, Jenina; Allen, William; Glaser, Tom; Levin, Alex V; Schneider, Adele; Khan, Ayesha; Liskova, Petra; Semina, Elena V.
Afiliación
  • Reis LM; Department of Pediatrics, Children's Research Institute at the Medical College of Wisconsin and Children's Hospital of Wisconsin, Milwaukee, WI 53226, USA.
  • Sorokina EA; Department of Pediatrics, Children's Research Institute at the Medical College of Wisconsin and Children's Hospital of Wisconsin, Milwaukee, WI 53226, USA.
  • Dudakova L; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, 121 08 Prague, Czech Republic.
  • Moravikova J; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, 121 08 Prague, Czech Republic.
  • Skalicka P; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, 121 08 Prague, Czech Republic.
  • Malinka F; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital, 121 08 Prague, Czech Republic.
  • Seese SE; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, 121 08 Prague, Czech Republic.
  • Thompson S; Department of Computer Science, Czech Technical University in Prague, 166 36 Prague, Czech Republic.
  • Bardakjian T; Department of Pediatrics, Children's Research Institute at the Medical College of Wisconsin and Children's Hospital of Wisconsin, Milwaukee, WI 53226, USA.
  • Capasso J; Department of Pediatrics, Children's Research Institute at the Medical College of Wisconsin and Children's Hospital of Wisconsin, Milwaukee, WI 53226, USA.
  • Allen W; Department of Pediatrics, Albert Einstein Medical Center, Philadelphia, PA 19141, USA.
  • Glaser T; Pediatric Ophthalmology and Ocular Genetics, Flaum Eye Institute, Pediatric Genetics, Golisano Children's Hospital, University of Rochester, Rochester, NY 14534 USA.
  • Levin AV; Fullerton Genetics Center, Mission Hospitals, HCA, Asheville, NC 28803 USA.
  • Schneider A; Cell Biology and Human Anatomy Department, UC-Davis School of Medicine, Davis, CA 95616, USA.
  • Khan A; Pediatric Ophthalmology and Ocular Genetics, Flaum Eye Institute, Pediatric Genetics, Golisano Children's Hospital, University of Rochester, Rochester, NY 14534 USA.
  • Liskova P; Department of Pediatrics, Albert Einstein Medical Center, Philadelphia, PA 19141, USA.
  • Semina EV; Pediatric Ophthalmology and Strabismus Unit, Al-Shifa Trust Eye Hospital, Rawalpindi, Pakistan.
Hum Mol Genet ; 30(17): 1591-1606, 2021 08 12.
Article en En | MEDLINE | ID: mdl-34046667
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anomalías del Ojo / Factores de Transcripción Forkhead / Ojo Tipo de estudio: Prognostic_studies Límite: Adolescent / Child / Female / Humans / Male Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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XML
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anomalías del Ojo / Factores de Transcripción Forkhead / Ojo Tipo de estudio: Prognostic_studies Límite: Adolescent / Child / Female / Humans / Male Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos