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Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature.
Gazdagh, Gabriella; Hunt, David; Gonzalez, Anna Maria Cueto; Rodriguez, Monserrat Pons; Chaudhry, Ayeshah; Madruga, Marcos; Vansenne, Fleur; Shears, Deborah; Curie, Aurore; Stattin, Eva-Lena; Anderlid, Britt-Marie; Trajkova, Slavica; Angelovska, Elena Sukarova; McWilliam, Catherine; Wyatt, Philip R; O'Driscoll, Mary; Atton, Giles; Bergman, Anke K; Zacher, Pia; Mewasingh, Leena D; López, Antonio Gonzalez-Meneses; Alonso-Luengo, Olga; Wai, Htoo A; Rohde, Ottilie; Boiroux, Pauline; Debant, Anne; Schmidt, Susanne; Baralle, Diana.
Affiliation
  • Gazdagh G; Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Trust, Southampton, UK.
  • Hunt D; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.
  • Gonzalez AMC; Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Trust, Southampton, UK.
  • Rodriguez MP; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.
  • Chaudhry A; Hospital Universitari Son Espases, 07120, Palma, Illes Balears, Spain.
  • Madruga M; Department of Laboratory Medicine and Genetics, Trillium Health Partners, Mississauga, Ontario, Canada.
  • Vansenne F; Department of Laboratory Medicine and Pathobiology, University of Toronto, Ontario, Canada.
  • Shears D; Hospital Viamed Santa Ángela De la Cruz, Sevilla, 41014, Spain.
  • Curie A; Department of Clinical Genetics, University Medical Center Groningen, 9713 GZ, Groningen, The Netherlands.
  • Stattin EL; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Anderlid BM; Reference Center for Intellectual Disability From Rrare Causes, Department of Child Neurology, Woman Mother and Child Hospital, Hospices Civils de Lyon, Lyon Neuroscience Research Centre, CNRS UMR5292, INSERM U1028, Université de Lyon, Bron, France.
  • Trajkova S; Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.
  • Angelovska ES; Department of Molecular Medicine and Surgery, Karolinska Institute and Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • McWilliam C; Department of Medical Sciences, Medical Genetics and Rare diseases, University of Turin, Turin, Italy.
  • Wyatt PR; Department of Endocronology and Genetics, University Clinic for Children's Diseases, Medical Faculty, University Sv. Kiril i Metodij, Skopje, Republic of Macedonia.
  • O'Driscoll M; NHS Tayside, Ninewells Hospital, Dundee, UK.
  • Atton G; Department of Obstetrics and Gynecology, York Central Hospital, Toronto, Canada.
  • Bergman AK; West Midlands Regional Genetics Service, Birmingham, UK.
  • Zacher P; Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Trust, Southampton, UK.
  • Mewasingh LD; Hannover Medical School, Institute of Human Genetics, Hannover, Germany.
  • López AG; Epilepsy Center Kleinwachau, Radeberg, Germany.
  • Alonso-Luengo O; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
  • Wai HA; Department of Paediatric Neurology, Imperial College Healthcare NHS Trust, London, UK.
  • Rohde O; Unidad de Dismorfologia, Unidad de Gestión Clínica de Pediatría, Hospital Universitario Virgen del Rocio, Sevilla, Pediatric department, University of Seville, Spain.
  • Boiroux P; Sección de Neurología Pediátrica, Unidad de Gestión Clínica de Pediatría. Hospital Universitario Virgen del Rocio, Sevilla, Pediatric department, University of Seville, Spain.
  • Debant A; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.
  • Schmidt S; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.
  • Baralle D; Centre de Recherche en Biologie Cellulaire de Montpellier (CRBM), University of Montpellier CNRS, Montpellier, France.
Am J Med Genet A ; 191(7): 1722-1740, 2023 07.
Article in En | MEDLINE | ID: mdl-36987741
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Full text: 1 Database: MEDLINE Main subject: Microcephaly / Nervous System Malformations Type of study: Risk_factors_studies Limits: Humans Language: En Year: 2023 Type: Article
Fulltext
Print
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PubMed Links
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Full text: 1 Database: MEDLINE Main subject: Microcephaly / Nervous System Malformations Type of study: Risk_factors_studies Limits: Humans Language: En Year: 2023 Type: Article