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Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
Gillentine, Madelyn A; Wang, Tianyun; Hoekzema, Kendra; Rosenfeld, Jill; Liu, Pengfei; Guo, Hui; Kim, Chang N; De Vries, Bert B A; Vissers, Lisenka E L M; Nordenskjold, Magnus; Kvarnung, Malin; Lindstrand, Anna; Nordgren, Ann; Gecz, Jozef; Iascone, Maria; Cereda, Anna; Scatigno, Agnese; Maitz, Silvia; Zanni, Ginevra; Bertini, Enrico; Zweier, Christiane; Schuhmann, Sarah; Wiesener, Antje; Pepper, Micah; Panjwani, Heena; Torti, Erin; Abid, Farida; Anselm, Irina; Srivastava, Siddharth; Atwal, Paldeep; Bacino, Carlos A; Bhat, Gifty; Cobian, Katherine; Bird, Lynne M; Friedman, Jennifer; Wright, Meredith S; Callewaert, Bert; Petit, Florence; Mathieu, Sophie; Afenjar, Alexandra; Christensen, Celenie K; White, Kerry M; Elpeleg, Orly; Berger, Itai; Espineli, Edward J; Fagerberg, Christina; Brasch-Andersen, Charlotte; Hansen, Lars Kjærsgaard; Feyma, Timothy; Hughes, Susan.
Afiliação
  • Gillentine MA; Department of Genome Sciences, University of Washington School of Medicine, 3720 15th Ave NE S413A, Box 355065, Seattle, WA, 981095-5065, USA.
  • Wang T; Department of Genome Sciences, University of Washington School of Medicine, 3720 15th Ave NE S413A, Box 355065, Seattle, WA, 981095-5065, USA.
  • Hoekzema K; Department of Genome Sciences, University of Washington School of Medicine, 3720 15th Ave NE S413A, Box 355065, Seattle, WA, 981095-5065, USA.
  • Rosenfeld J; Baylor Genetics Laboratories, Houston, TX, USA.
  • Liu P; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Guo H; Baylor Genetics Laboratories, Houston, TX, USA.
  • Kim CN; Department of Genome Sciences, University of Washington School of Medicine, 3720 15th Ave NE S413A, Box 355065, Seattle, WA, 981095-5065, USA.
  • De Vries BBA; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
  • Vissers LELM; Department of Anatomy, University of California, San Francisco, CA, USA.
  • Nordenskjold M; Department of Psychiatry, University of California, San Francisco, CA, USA.
  • Kvarnung M; Weill Institute for Neurosciences, University of California at San Francisco, San Francisco, CA, USA.
  • Lindstrand A; The Eli and Edythe Broad Center of Regeneration Medicine and Stem Cell Research, University of California, San Francisco, CA, USA.
  • Nordgren A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Gecz J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Iascone M; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Cereda A; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Scatigno A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Maitz S; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Zanni G; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Bertini E; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Zweier C; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Schuhmann S; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Wiesener A; School of Medicine and the Robinson Research Institute, the University of Adelaide at the Women's and Children's Hospital, Adelaide, South Australia, Australia.
  • Pepper M; Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.
  • Panjwani H; South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia.
  • Torti E; Laboratorio di Genetica Medica - ASST Papa Giovanni XXIII, Bergamo, Italy.
  • Abid F; Department of Pediatrics, ASST Papa Giovanni XXIII, Bergamo, Italy.
  • Anselm I; Department of Pediatrics, ASST Papa Giovanni XXIII, Bergamo, Italy.
  • Srivastava S; Genetic Unit, Department of Pediatrics, Fondazione MBBM S. Gerardo Hospital, Monza, Italy.
  • Atwal P; Unit of Neuromuscular and Neurodegenerative Disorders, Department Neurosciences, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy.
  • Bacino CA; Unit of Neuromuscular and Neurodegenerative Disorders, Department Neurosciences, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy.
  • Bhat G; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
  • Cobian K; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
  • Bird LM; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
  • Friedman J; Center on Human Development and Disability, University of Washington, Seattle, WA, USA.
  • Wright MS; Seattle Children's Autism Center, Seattle, WA, USA.
  • Callewaert B; Center on Human Development and Disability, University of Washington, Seattle, WA, USA.
  • Petit F; Seattle Children's Autism Center, Seattle, WA, USA.
  • Mathieu S; GeneDX, Gaithersburg, MD, USA.
  • Afenjar A; Department of Pediatrics-Neurology, Baylor College of Medicine, Houston, TX, USA.
  • Christensen CK; Texas Children's Hospital, Houston, TX, USA.
  • White KM; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Elpeleg O; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Berger I; The Atwal Clinic: Genomic & Personalized Medicine, Jacksonville, FL, USA.
  • Espineli EJ; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Fagerberg C; Department of Pediatrics, Section of Genetics, University of Illinois at Chicago, Chicago, IL, USA.
  • Brasch-Andersen C; Department of Pediatrics, Section of Genetics, University of Illinois at Chicago, Chicago, IL, USA.
  • Hansen LK; Department of Pediatrics, University of California San Diego, San Diego, CA, USA.
  • Feyma T; Genetics/Dysmorphology, Rady Children's Hospital San Diego, San Diego, CA, USA.
  • Hughes S; Department of Pediatrics, University of California San Diego, San Diego, CA, USA.
Genome Med ; 13(1): 63, 2021 04 19.
Article em En | MEDLINE | ID: mdl-33874999
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Ribonucleoproteínas Nucleares Heterogêneas / Transtornos do Neurodesenvolvimento / Mutação Limite: Humans Idioma: En Revista: Genome Med Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Adicionar na Minha BVS
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Ribonucleoproteínas Nucleares Heterogêneas / Transtornos do Neurodesenvolvimento / Mutação Limite: Humans Idioma: En Revista: Genome Med Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos