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Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.
Cousin, Margot A; Veale, Emma L; Dsouza, Nikita R; Tripathi, Swarnendu; Holden, Robyn G; Arelin, Maria; Beek, Geoffrey; Bekheirnia, Mir Reza; Beygo, Jasmin; Bhambhani, Vikas; Bialer, Martin; Bigoni, Stefania; Boelman, Cyrus; Carmichael, Jenny; Courtin, Thomas; Cogne, Benjamin; Dabaj, Ivana; Doummar, Diane; Fazilleau, Laura; Ferlini, Alessandra; Gavrilova, Ralitza H; Graham, John M; Haack, Tobias B; Juusola, Jane; Kant, Sarina G; Kayani, Saima; Keren, Boris; Ketteler, Petra; Klöckner, Chiara; Koopmann, Tamara T; Kruisselbrink, Teresa M; Kuechler, Alma; Lambert, Laëtitia; Latypova, Xénia; Lebel, Robert Roger; Leduc, Magalie S; Leonardi, Emanuela; Lewis, Andrea M; Liew, Wendy; Machol, Keren; Mardini, Samir; McWalter, Kirsty; Mignot, Cyril; McLaughlin, Julie; Murgia, Alessandra; Narayanan, Vinodh; Nava, Caroline; Neuser, Sonja; Nizon, Mathilde; Ognibene, Davide.
Afiliación
  • Cousin MA; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.
  • Veale EL; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.
  • Dsouza NR; Medway School of Pharmacy, University of Kent and University of Greenwich, Central Avenue, Anson Building, Central Avenue, Chatham Maritime, ME4 4, Kent, TB, ME4 4 TB, UK.
  • Tripathi S; Bioinformatics Research and Development Laboratory, Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI, USA.
  • Holden RG; Bioinformatics Research and Development Laboratory, Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI, USA.
  • Arelin M; Medway School of Pharmacy, University of Kent and University of Greenwich, Central Avenue, Anson Building, Central Avenue, Chatham Maritime, ME4 4, Kent, TB, ME4 4 TB, UK.
  • Beek G; Department for Women and Child Health, Hospital for Children and Adolescents, University Hospitals, University of Leipzig, Leipzig, Germany.
  • Bekheirnia MR; Children's Hospital of Minnesota, Minneapolis, MN, USA.
  • Beygo J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Bhambhani V; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.
  • Bialer M; Children's Hospital of Minnesota, Minneapolis, MN, USA.
  • Bigoni S; Division of Medical Genetics, Northwell Health, Manhasset, NY, USA.
  • Boelman C; Medical Genetics Unit, Department of Medical Sciences, Ferrara University, Ferrara, Italy.
  • Carmichael J; Division of Neurology, BC Children's Hospital, Vancouver, British Columbia, Canada.
  • Courtin T; Oxford Centre for Genomic Medicine, ACE Building, Nuffield Orthopaedic centre, Oxford University Hospitals NHS Foundation Trust, Windmill road, Headington, Oxford, OX3 7HE, UK.
  • Cogne B; Département of Genetics, APHP, Hôpital Pitié-Salpêtrière, Sorbonne Université, Paris, France.
  • Dabaj I; CHU Nantes, Service de génétique médicale, Nantes, France.
  • Doummar D; CHU de Rouen, Service de Néonatologie, Réanimation pédiatrique, Neuropédiatrie et éducation fonctionnelle de l'enfant, INSERM U 1245, ED497, 76000, Rouen, France.
  • Fazilleau L; APHP, Hôpital Raymond Poincaré, Hôpitaux Universitaires Paris Ile-de-France Ouest, Pôle pédiatrique, Service de Pédiatrie, Centre de Reference Nord-Est-Ile de France, 92380, Garches, France.
  • Ferlini A; APHP, Department of Neuropediatrics, National Reference Center for Neurogenetic Disorders, Hôpital Armand-Trousseau, GHUEP, Paris, France.
  • Gavrilova RH; Service de Néonatologie, CHU de Caen, Caen, France.
  • Graham JM; Medical Genetics Unit, Department of Medical Sciences, Ferrara University, Ferrara, Italy.
  • Haack TB; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.
  • Juusola J; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
  • Kant SG; Department of Pediatrics, Harbor-UCLA Medical Center, Cedars-Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
  • Kayani S; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany.
  • Keren B; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
  • Ketteler P; GeneDx, 207 Perry Parkway, Gaithersburg, MD, USA.
  • Klöckner C; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Koopmann TT; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
  • Kruisselbrink TM; Departments of Pediatrics and Neurology, University of Texas Southwestern Medical Center and Children's Health, Dallas, TX, USA.
  • Kuechler A; APHP, Département de Génétique et Centre de Référence Déficiences Intellectuelles de Causes Rares, Hôpital de la Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, 75651, Paris, France.
  • Lambert L; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.
  • Latypova X; Pediatrics III, Pediatric Oncology and Hematology, University Hospital Essen, Essen, Germany.
  • Lebel RR; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany.
  • Leduc MS; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Leonardi E; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.
  • Lewis AM; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
  • Liew W; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.
  • Machol K; Service de Genetique Clinique, CHRU de Nancy, F-54000, Vandoeuvre-les-Nancy, France.
  • Mardini S; Unite INSERM N-GERE UMR_S 1256, Université de Lorraine, Faculté de Médecine, 9 avenue de la Forêt de Haye, CS 50184, Vandoeuvre-les-Nancy, France.
  • McWalter K; CHU Nantes, Service de génétique médicale, Nantes, France.
  • Mignot C; Section of Medical Genetics, SUNY Upstate University Hospital, Syracuse, NY, USA.
  • McLaughlin J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Murgia A; Molecular Genetics of Neurodevelopmental Disorders, Department of Woman and Child Health, University of Padova, Padua, Italy.
  • Narayanan V; Pediatric Research Institute, Città della Speranza, Padova, Italy.
  • Nava C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Neuser S; Department of Paediatric Medicine, KK Women's and Children's Hospital, Mount Elizabeth Hospital, Singapore, Singapore.
  • Nizon M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Ognibene D; Texas Children's Hospital, Houston, TX, USA.
Genome Med ; 14(1): 62, 2022 06 13.
Article en En | MEDLINE | ID: mdl-35698242
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Canales de Potasio de Dominio Poro en Tándem / Discapacidad Intelectual Límite: Humans Idioma: En Revista: Genome Med Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
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XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Canales de Potasio de Dominio Poro en Tándem / Discapacidad Intelectual Límite: Humans Idioma: En Revista: Genome Med Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido