文献
J-GLOBAL ID:202202238478834405
整理番号:22A0449744
MYT1L関連神経発達障害:40の新しい症例の記述と臨床的および分子的側面の文献レビュー【JST・京大機械翻訳】
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects
著者 (75件):
Coursimault Juliette
(Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, CHU Rouen, Rouen, France)
,
Guerrot Anne-Marie
(Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, CHU Rouen, Rouen, France)
,
Morrow Michelle M.
(GeneDx, Gaithersburg, USA)
,
Schramm Catherine
(Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, CHU Rouen, Rouen, France)
,
Zamora Francisca Millan
(GeneDx, Gaithersburg, USA)
,
Shanmugham Anita
(GeneDx, Gaithersburg, USA)
,
Liu Shuxi
(GeneDx, Gaithersburg, USA)
,
Zou Fanggeng
(GeneDx, Gaithersburg, USA)
,
Bilan Frederic
(Service de Genetique, Centre Hospitalier Universitaire de Poitiers, Poitiers, France)
,
Le Guyader Gwenaeel
(Service de Genetique, Centre Hospitalier Universitaire de Poitiers, Poitiers, France)
,
Bruel Ange-Line
(UMR1231 GAD, Inserm - Universite Bourgogne-Franche Comte, Dijon, France)
,
Bruel Ange-Line
(Unite Fonctionnelle Innovation en Diagnostic Genomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France)
,
Denomme-Pichon Anne-Sophie
(UMR1231 GAD, Inserm - Universite Bourgogne-Franche Comte, Dijon, France)
,
Denomme-Pichon Anne-Sophie
(Unite Fonctionnelle Innovation en Diagnostic Genomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France)
,
Faivre Laurence
(UMR1231 GAD, Inserm - Universite Bourgogne-Franche Comte, Dijon, France)
,
Faivre Laurence
(Centre de Reference Anomalies du Developpement et Syndromes Malformatifs de l’Inter-Region est, FHU TRANSLAD, CHU Dijon-Bourgogne, Dijon, France)
,
Tran Mau-Them Frederic
(UMR1231 GAD, Inserm - Universite Bourgogne-Franche Comte, Dijon, France)
,
Tran Mau-Them Frederic
(Unite Fonctionnelle Innovation en Diagnostic Genomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France)
,
Tessarech Marine
(Service de Genetique Medicale, CHU d’Angers, Angers, France)
,
Colin Estelle
(Service de Genetique Medicale, CHU d’Angers, Angers, France)
,
Colin Estelle
(Univ Angers, [CHU Angers], INSERM, CNRS, MITOVASC, ICAT, Angers, SFR, France)
,
El Chehadeh Salima
(Service de Genetique Medicale, Institut de Genetique Medicale d’Alsace (IGMA), Hopitaux Universitaires de Strasbourg, Hopital de Hautepierre, Strasbourg, France)
,
Gerard Benedicte
(Service de Genetique Medicale, Institut de Genetique Medicale d’Alsace (IGMA), Hopitaux Universitaires de Strasbourg, Hopital de Hautepierre, Strasbourg, France)
,
Schaefer Elise
(Service de Genetique Medicale, Institut de Genetique Medicale d’Alsace (IGMA), Hopitaux Universitaires de Strasbourg, Hopital de Hautepierre, Strasbourg, France)
,
Cogne Benjamin
(Service de Genetique Medicale, CHU Nantes, Nantes, France)
,
Isidor Bertrand
(Service de Genetique Medicale, CHU Nantes, Nantes, France)
,
Nizon Mathilde
(Service de Genetique Medicale, CHU Nantes, Nantes, France)
,
Doummar Diane
(Hopital Trousseau, APHP.Sorbonne Universite, Paris, France)
,
Valence Stephanie
(Hopital Trousseau, APHP.Sorbonne Universite, Paris, France)
,
Heron Delphine
(Departement de Genetique, Groupe Hospitalier Pitie-Salpetriere-Hopital Trousseau Centre de Reference Deficiences Intellectuelles de Causes Rares, APHP.Sorbonne Universite, Paris, France)
,
Keren Boris
(Departement de Genetique, Groupe Hospitalier Pitie-Salpetriere-Hopital Trousseau Centre de Reference Deficiences Intellectuelles de Causes Rares, APHP.Sorbonne Universite, Paris, France)
,
Mignot Cyril
(Departement de Genetique, Groupe Hospitalier Pitie-Salpetriere-Hopital Trousseau Centre de Reference Deficiences Intellectuelles de Causes Rares, APHP.Sorbonne Universite, Paris, France)
,
Coutton Charles
(Genetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, UMR 5309, CNRS, Universite Grenoble Alpes, Grenoble, France)
,
Devillard Francoise
(Service de Genetique et Procreation, CHU Grenoble Alpes, Grenoble, France)
,
Alaix Anne-Sophie
(Department of Genetics, IHU Necker-Enfants Malades, University Paris Descartes, Paris, France)
,
Amiel Jeanne
(Department of Genetics, IHU Necker-Enfants Malades, University Paris Descartes, Paris, France)
,
Colleaux Laurence
(Department of Genetics, IHU Necker-Enfants Malades, University Paris Descartes, Paris, France)
,
Munnich Arnold
(Department of Genetics, IHU Necker-Enfants Malades, University Paris Descartes, Paris, France)
,
Poirier Karine
(Department of Genetics, IHU Necker-Enfants Malades, University Paris Descartes, Paris, France)
,
Rio Marlene
(Department of Genetics, IHU Necker-Enfants Malades, University Paris Descartes, Paris, France)
,
Rondeau Sophie
(Department of Genetics, IHU Necker-Enfants Malades, University Paris Descartes, Paris, France)
,
Barcia Giulia
(Department of Genetics, IHU Necker-Enfants Malades, University Paris Descartes, Paris, France)
,
Callewaert Bert
(Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University Hospital, Ghent University, Ghent, Belgium)
,
Dheedene Annelies
(Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University Hospital, Ghent University, Ghent, Belgium)
,
Kumps Candy
(Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University Hospital, Ghent University, Ghent, Belgium)
,
Vergult Sarah
(Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University Hospital, Ghent University, Ghent, Belgium)
,
Menten Bjorn
(Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University Hospital, Ghent University, Ghent, Belgium)
,
Chung Wendy K.
(Columbia University Irving Medical Center, New York, NY, USA)
,
Hernan Rebecca
(Columbia University Irving Medical Center, New York, NY, USA)
,
Larson Austin
(School of Medicine and Children’s Hospital, University of Colorado, Aurora, CO, USA)
,
Nori Kelly
(School of Medicine and Children’s Hospital, University of Colorado, Aurora, CO, USA)
,
Stewart Sarah
(School of Medicine and Children’s Hospital, University of Colorado, Aurora, CO, USA)
,
Wheless James
(Division of Pediatric Neurology, University of Tennessee, Health Science Center, Memphis, USA)
,
Kresge Christina
(Division of Clinical Genetics, Rutgers New Jersey Medical School, Newark, USA)
,
Pletcher Beth A.
(Division of Clinical Genetics, Rutgers New Jersey Medical School, Newark, USA)
,
Caumes Roseline
(Universite de Lille, CHU de Lille, Clinique de Genetique ≪ Guy Fontaine ≫, Lille, France)
,
Smol Thomas
(Universite de Lille, CHU de Lille, Institut de Genetique Medicale, Lille, France)
,
Sigaudy Sabine
(Departement de Genetique Medicale, Hopital Timone Enfant, Marseille, France)
,
Coubes Christine
(Departement de Genetique Medicale, Maladies Rares et Medecine Personnalisee, CHU Montpellier, Montpellier, France)
,
Helm Margaret
(Department of Pediatrics, Division of Genetics. Portland, Maine Medical Center, Maine, USA)
,
Smith Rosemarie
(Department of Pediatrics, Division of Genetics. Portland, Maine Medical Center, Maine, USA)
,
Morrison Jennifer
(Arnold Palmer Hospital, Orlando Health, Orlando, FL, USA)
,
Wheeler Patricia G.
(Arnold Palmer Hospital, Orlando Health, Orlando, FL, USA)
,
Kritzer Amy
(Division of Genetics and Genomics, Boston Children’s Hospital, Boston, MA, USA)
,
Jouret Guillaume
(National Center of Genetics (NCG), Laboratoire National de Sante (LNS), Dudelange, Luxembourg)
,
Afenjar Alexandra
(Centre de Reference Malformations et Maladies Congenitales du Cervelet et Deficiences Intellectuelles de Causes Rares, Departement de Genetique et Embryologie Medicale, APHP. Sorbonne Universite, Hopital Trousseau, Paris, France)
,
Deleuze Jean-Francois
(Centre National de Recherche en Genomique Humaine (CNRGH), Universite Paris-Saclay, CEA, Evry, France)
,
Olaso Robert
(Centre National de Recherche en Genomique Humaine (CNRGH), Universite Paris-Saclay, CEA, Evry, France)
,
Boland Anne
(Centre National de Recherche en Genomique Humaine (CNRGH), Universite Paris-Saclay, CEA, Evry, France)
,
Poitou Christine
(Service de Nutrition, Hopital de la Pitie Salpetriere - AP-HP, Paris, France)
,
Frebourg Thierry
(Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, CHU Rouen, Rouen, France)
,
Houdayer Claude
(Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, CHU Rouen, Rouen, France)
,
Saugier-Veber Pascale
(Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, CHU Rouen, Rouen, France)
,
Nicolas Gaeel
(Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, CHU Rouen, Rouen, France)
,
Lecoquierre Francois
(Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, CHU Rouen, Rouen, France)
資料名:
Human Genetics
(Human Genetics)
巻:
141
号:
1
ページ:
65-80
発行年:
2022年
JST資料番号:
E0781B
ISSN:
0340-6717
CODEN:
HUGEDQ
資料種別:
逐次刊行物 (A)
記事区分:
原著論文
発行国:
ドイツ (DEU)
言語:
英語 (EN)