Your browser doesn't support javascript.
loading
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.
Usmani, Muhammad A; Ahmed, Zubair M; Magini, Pamela; Pienkowski, Victor Murcia; Rasmussen, Kristen J; Hernan, Rebecca; Rasheed, Faiza; Hussain, Mureed; Shahzad, Mohsin; Lanpher, Brendan C; Niu, Zhiyv; Lim, Foong-Yen; Pippucci, Tommaso; Ploski, Rafal; Kraus, Verena; Matuszewska, Karolina; Palombo, Flavia; Kianmahd, Jessica; Martinez-Agosto, Julian A; Lee, Hane; Colao, Emma; Motazacker, M Mahdi; Brigatti, Karlla W; Puffenberger, Erik G; Riazuddin, S Amer; Gonzaga-Jauregui, Claudia; Chung, Wendy K; Wagner, Matias; Schultz, Matthew J; Seri, Marco; Kievit, Anneke J A; Perrotti, Nicola; Wassink-Ruiter, J S Klein; van Bokhoven, Hans; Riazuddin, Sheikh; Riazuddin, Saima.
Afiliação
  • Usmani MA; Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 21201, USA; Department of Molecular Biology, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad 44000, Pakistan.
  • Ahmed ZM; Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 21201, USA; Department of Molecular Biology and Biochemistry, School of Medicine, University of Maryland, Baltimore, MD 21201, USA.
  • Magini P; U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Via Albertoni 15, Bologna, Italy.
  • Pienkowski VM; Department of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland.
  • Rasmussen KJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.
  • Hernan R; Department of Pediatrics, Columbia University, New York, NY 10032, USA.
  • Rasheed F; Centre of Excellence in Molecular Biology, University of the Punjab, Lahore 54500, Pakistan.
  • Hussain M; Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 21201, USA.
  • Shahzad M; Department of Molecular Biology, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad 44000, Pakistan.
  • Lanpher BC; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.
  • Niu Z; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA.
  • Lim FY; Division of Pediatric Surgery, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
  • Pippucci T; U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Via Albertoni 15, Bologna, Italy.
  • Ploski R; Department of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland.
  • Kraus V; Department of Pediatrics, Klinik für Kinder- und Jugendmedizin, München Klinik Schwabing und Harlaching, Klinikum Rechts der Isar der Technischen Universität Munich, Munich, Germany.
  • Matuszewska K; Department of Medical Genetics, University of Medical Sciences, 60-806 Poznan, Poland; Centers for Medical Genetics GENESIS, Grudzieniec, 60-406 Poznan, Poland.
  • Palombo F; U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Via Albertoni 15, Bologna, Italy; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, 40139 Bologna, Italy.
  • Kianmahd J; Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.
  • Martinez-Agosto JA; Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA; Department of Psychiatry and Biobehavioral S
  • Lee H; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.
  • Colao E; Medical Genetics Unit, Mater Domini University Hospital, 88100 Catanzaro, Italy.
  • Motazacker MM; Amsterdam Laboratory of Genome Diagnostics, Academic Medical Center, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands.
  • Brigatti KW; Clinic for Special Children, Strasburg, PA 17579, USA.
  • Puffenberger EG; Clinic for Special Children, Strasburg, PA 17579, USA.
  • Riazuddin SA; The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
  • Gonzaga-Jauregui C; Regeneron Genetics Center, Tarrytown, NY 10591, USA.
  • Chung WK; Department of Pediatrics, Columbia University, New York, NY 10032, USA; Department of Medicine, Columbia University, New York, NY 10032, USA.
  • Wagner M; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Schultz MJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.
  • Seri M; U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Via Albertoni 15, Bologna, Italy; Medical Genetics Unit, Department of Medical and Surgical Sciences, University of Bologna, 40138 Bologna, Italy.
  • Kievit AJA; Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, 3015 GD Rotterdam, the Netherlands.
  • Perrotti N; Department of Health Sciences, University of Catanzaro Magna Graecia, 88100 Catanzaro, Italy.
  • Wassink-Ruiter JSK; Department of Genetics, University of Groningen, University Medical Center Groningen, P.O. box 30.001, 9700 RB Groningen, the Netherlands.
  • van Bokhoven H; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. box 9101, 6500 HB Nijmegen, the Netherlands.
  • Riazuddin S; Department of Molecular Biology, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad 44000, Pakistan; Jinnah Burn and Reconstructive Surgery Center, Allama Iqbal Medical College, University of Health Sciences, Lahore 54550, Pakistan.
  • Riazuddin S; Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 21201, USA; Department of Molecular Biology and Biochemistry, School of Medicine, University of Maryland, Baltimore, MD 21201, USA. Electronic address: sriazuddin@som.umaryland.edu.
Am J Hum Genet ; 108(7): 1330-1341, 2021 07 01.
Article em En | MEDLINE | ID: mdl-34102099
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Deficiências do Desenvolvimento / Complexo 1 de Proteínas Adaptadoras / Epilepsia / Transtornos do Neurodesenvolvimento / Deficiência Intelectual Tipo de estudo: Prognostic_studies Limite: Animals / Female / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Deficiências do Desenvolvimento / Complexo 1 de Proteínas Adaptadoras / Epilepsia / Transtornos do Neurodesenvolvimento / Deficiência Intelectual Tipo de estudo: Prognostic_studies Limite: Animals / Female / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article