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Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.
Sy, Mary R; Chauhan, Jaynee; Prescott, Katrina; Imam, Aliza; Kraus, Alison; Beleza, Ana; Salkeld, Lee; Hosdurga, Saraswati; Parker, Michael; Vasudevan, Pradeep; Islam, Lily; Goel, Himanshu; Bain, Nicole; Park, Soo-Mi; Mohammed, Shehla; Dieterich, Klaus; Coutton, Charles; Satre, Véronique; Vieville, Gaëlle; Donaldson, Alan; Beneteau, Claire; Ghoumid, Jamal; Van Den Bogaert, Kris; Boogaerts, Anneleen; Boudry, Elise; Vanlerberghe, Clémence; Petit, Florence; Bernardini, Laura; Torres, Barbara; Mattina, Teresa; Carli, Diana; Mandrile, Giorgia; Pinelli, Michele; Brunetti-Pierri, Nicola; Neas, Katherine; Beddow, Rachel; Tørring, Pernille M; Faletra, Flavio; Spedicati, Beatrice; Gasparini, Paolo; Mussa, Alessandro; Ferrero, Giovanni Battista; Lampe, Anne; Lam, Wayne; Bi, Weimin; Bacino, Carlos A; Kuwahara, Akela; Bush, Jeffrey O; Zhao, Xiaonan; Luna, Pamela N.
Afiliação
  • Sy MR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Chauhan J; Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Chapel Allerton Hospital, Leeds, UK.
  • Prescott K; Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Chapel Allerton Hospital, Leeds, UK.
  • Imam A; Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Chapel Allerton Hospital, Leeds, UK.
  • Kraus A; Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Chapel Allerton Hospital, Leeds, UK.
  • Beleza A; Clinical Genetics Department, University Hospitals Bristol and Weston, Bristol NHS Foundation, Bristol, UK.
  • Salkeld L; Whiteladies Medical Group, Bristol, UK.
  • Hosdurga S; Community Children's Health Partnership, Sirona Health and Care, Bristol, UK.
  • Parker M; Sheffield Children's NHS Foundation Trust, Sheffield, UK.
  • Vasudevan P; University Hospitals of Leicester NHS Trust, Leicester, UK.
  • Islam L; Birmingham Women's and Children's Hospital NHS Foundation Trust, Birmingham, UK.
  • Goel H; Hunter Genetics, Hunter New England Local Health District, Waratah, New South Wales, Australia.
  • Bain N; University of Newcastle, Callaghan, New South Wales, Australia.
  • Park SM; Department of Molecular Medicine, New South Wales Health Pathology, Newcastle, New South Wales, Australia.
  • Mohammed S; East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
  • Dieterich K; Guy's and St Thomas' NHS Foundation Trust, London, UK.
  • Coutton C; Département de Génétique et Procréation, Hôpital Couple Enfant, CHU Grenoble, Grenoble, France.
  • Satre V; INSERM U1216 Grenoble Institut des Neurosciences, Cellular Myology and Pathology, Grenoble, France.
  • Vieville G; Département de Génétique et Procréation, Hôpital Couple Enfant, CHU Grenoble, Grenoble, France.
  • Donaldson A; Genetic Epigenetic and Therapies of Infertility Team, Institute for Advanced Biosciences, Inserm U 1209, CNRS UMR 5309, Université Grenoble Alpes, Grenoble, France.
  • Beneteau C; Département de Génétique et Procréation, Hôpital Couple Enfant, CHU Grenoble, Grenoble, France.
  • Ghoumid J; Genetic Epigenetic and Therapies of Infertility Team, Institute for Advanced Biosciences, Inserm U 1209, CNRS UMR 5309, Université Grenoble Alpes, Grenoble, France.
  • Van Den Bogaert K; Département de Génétique et Procréation, Hôpital Couple Enfant, CHU Grenoble, Grenoble, France.
  • Boogaerts A; Clinical Genetics Department, St Michaels Hospital, Bristol, UK.
  • Boudry E; Nantes Université, CHU de Nantes, UF 9321 de Fœtopathologie et Génétique, Nantes, France.
  • Vanlerberghe C; Université de Lille, ULR7364 RADEME, CHU Lille, Clinique de Génétique Guy Fontaine, Lille, France.
  • Petit F; Center for Human Genetics, University Hospitals Leuven-KU Leuven, Leuven, Belgium.
  • Bernardini L; Center for Human Genetics, University Hospitals Leuven-KU Leuven, Leuven, Belgium.
  • Torres B; CHU Lille, Institut de Génétique Médicale, Lille, France.
  • Mattina T; Université de Lille, ULR7364 RADEME, CHU Lille, Clinique de Génétique Guy Fontaine, Lille, France.
  • Carli D; Université de Lille, ULR7364 RADEME, CHU Lille, Clinique de Génétique Guy Fontaine, Lille, France.
  • Mandrile G; Medical Genetics Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Pinelli M; Medical Genetics Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Brunetti-Pierri N; Department of Biomedical and Biotechnological Sciences, Medical Genetics, University of Catania, Catania, Italy.
  • Neas K; Scientific Foundation and Clinic G. B. Morgagni, Catania, Italy.
  • Beddow R; Department of Public Health and Pediatrics, University of Torino, Torino, Italy.
  • Tørring PM; Medical Genetics Unit, San Luigi University Hospital, University of Torino, Orbassano, Italy.
  • Faletra F; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Naples, Italy.
  • Spedicati B; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.
  • Gasparini P; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.
  • Mussa A; Department of Translational Medicine, University of Naples Federico II, Naples, Italy.
  • Ferrero GB; Genetic Health Service NZ, Wellington, New Zealand.
  • Lampe A; Wellington Regional Genetics Laboratory, Wellington, New Zealand.
  • Lam W; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
  • Bi W; Institute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste, Italy.
  • Bacino CA; Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy.
  • Kuwahara A; Institute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste, Italy.
  • Bush JO; Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy.
  • Zhao X; Department of Public Health and Pediatrics, University of Torino, Torino, Italy.
  • Luna PN; Pediatric Clinical Genetics Unit, Regina Margherita Children's Hospital, Torino, Italy.
Am J Med Genet A ; 188(12): 3492-3504, 2022 12.
Article em En | MEDLINE | ID: mdl-36135330
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fístula Traqueoesofágica / Atresia Esofágica Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fístula Traqueoesofágica / Atresia Esofágica Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article