نتائج البحث - "Lines MA"

المؤلفون: Lines MA; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada., Goldenberg P; Medical Genetics Unit, Department of Pediatrics, MassGeneral Hospital for Children, Boston, Massachusetts, USA., Wong A; Medical Genetics Unit, Department of Pediatrics, MassGeneral Hospital for Children, Boston, Massachusetts, USA., Srivastava S; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA., Bayat A; Department of Epilepsy Genetics and Personalized Medicine, Filadelfia Epilepsy Hospital, Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark., Hove H; Department of Pediatrics, Center of Rare Diseases, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark., Karstensen HG; Department of Genetics, Center of Diagnostics, Copenhagen University Hospital - Rigshospitalet, Rigshospitalet, Denmark., Anyane-Yeboa K; Division of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, New York, USA., Liao J; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, New York, USA., Jiang N; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, New York, USA., May A; Division of Child Neurology, Department of Neurology, Columbia University Irving Medical Center, New York, New York, USA., Guzman E; Division of Clinical Genetics, Department of Pediatrics, New York Presbyterian Hospital, Columbia University, New York, New York, USA., Morleo M; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy., D'Arrigo S; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Ciaccio C; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Pantaleoni C; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Castello R; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy., McKee S; Northern Ireland Regional Genetics Service, Belfast, UK., Ong J; Child Neurology Consultants of Austin, Austin, Texas, USA., Zibdeh-Lough H; Department of Pediatrics, Dell Children's Medical Center of Central Texas, Austin, Texas, USA., Tran-Mau-Them F; UF6254 Innovation en Diagnostic Genomique des Maladies Rares, Dijon, France., Gerasimenko A; APHP Sorbonne Université, GH Pitié Salpêtriére et Trousseau, Département de Génétique, Centre de référence 'déficiences intellectuelles de causes rares', Paris, France., Heron D; APHP Sorbonne Université, GH Pitié Salpêtriére et Trousseau, Département de Génétique, Centre de référence 'déficiences intellectuelles de causes rares', Paris, France., Keren B; APHP Sorbonne Université, GH Pitié Salpêtriére et Trousseau, Département de Génétique, Centre de référence 'déficiences intellectuelles de causes rares', Paris, France., Margot H; Universitie Bordeaux, MRGM INSERM U1211, CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France., de Sainte Agathe JM; APHP Sorbonne Université, GH Pitié Salpêtriére et Trousseau, Département de Génétique, Centre de référence 'déficiences intellectuelles de causes rares', Paris, France., Burglen L; APHP, Sorbonne Université, Hôpital TROUSSEAU, Centre de Référence des Malformations et Maladies Congénitales du Cervelet et Département de Génétique, Paris, France., Voets T; Laboratory of Ion Channel Research and TRP Research Platform Leuven (TRPLe), Department of Cellular and Molecular Medicine, University of Leuven, Leuven, Belgium.; VIB Center for Brain & Disease Research, Leuven, Belgium., Vriens J; Laboratory of Experimental Gynecology and Obstetrics, Department of Development and Regeneration, University of Leuven, Leuven, Belgium., Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada., Dyment DA; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.

مؤلفون مشاركون: TUDP Study Group; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Jun; Vol. 188 (6), pp. 1667-1675. Date of Electronic Publication: 2022 Feb 10.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Epilepsy* , Infant, Newborn, Diseases* , Intellectual Disability*/genetics , TRPM Cation Channels*/genetics, Child ; Developmental Disabilities/genetics ; Humans ; Infant, Newborn ; Muscle Hypotonia/genetics ; Mutation, Missense ; Exome Sequencing

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10

دورية أكاديمية

Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.

المؤلفون: Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; UCL Queen Square Institute of Neurology, University College London, London, UK., Wortmann SB; Amalia Children's Hospital, Radboud University Nijmegen, Nijmegen, The Netherlands.; University Children's Hospital, Paracelsus Medical University, Salzburg, Austria., Kaya N; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.; Department of Translational Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., Stellingwerff MD; Department of Child Neurology, Emma Children's Hospital, Amsterdam Leukodystrophy Center, Amsterdam University Medical Centers, Vrije Universiteit and Amsterdam Neuroscience, Amsterdam, The Netherlands., Pistorio A; Clinical Epidemiology and Biostatistics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Glamuzina E; Adult and Paediatric National Metabolic Service, Starship Children's Hospital, Auckland, New Zealand., van Karnebeek CD; Departments of Pediatrics and Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands., Skrypnyk C; Department of Molecular Medicine, Al-Jawhara Centre for Molecular Medicine, Arabian Gulf University, Manama, Kingdom of Bahrain., Iwanicka-Pronicka K; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.; Department of Audiology and Phoniatrics, The Children's Memorial Health Institute, Warsaw, Poland., Piekutowska-Abramczuk D; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland., Ciara E; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland., Tort F; Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica iGenètica Molecular, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain., Sheidley B; Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusettes, USA.; Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Boston Children's Hospital, Boston, Massachusettes, USA., Poduri A; Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusettes, USA.; Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Boston Children's Hospital, Boston, Massachusettes, USA.; Department of Neurology, Harvard Medical School, Boston, Massachusettes, USA., Jayakar P; Nicklaus Children's Hospital, Miami, Florida, USA., Jayakar A; Nicklaus Children's Hospital, Miami, Florida, USA., Upadia J; Tulane University School of Medicine, New Orleans, Louisiana, USA., Walano N; Tulane University School of Medicine, New Orleans, Louisiana, USA., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Prokisch H; Institute of Human Genetics, Technische Universität München, Munich, Germany.; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany., Aldhalaan H; Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., Karimiani EG; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Molecular and Clinical Sciences Institute, St. George's University of London, Cranmer Terrace, London, UK.; Innovative Medical Research Center, Islamic Azad University, Mashhad Branch, Mashhad, Iran., Yildiz Y; Pediatric Metabolic Diseases Clinic, Dr. Sami Ulus Training and Research Hospital for Maternity and Children, Ankara, Turkey., Ceylan AC; Department of Medical Genetics, Ankara City Hospital, Ankara, Turkey., Santiago-Sim T; GeneDx, Gaithersburg, Maryland, USA., Dameron A; GeneDx, Gaithersburg, Maryland, USA., Yang H; GeneDx, Gaithersburg, Maryland, USA., Toosi MB; Pediatric Neurology Department, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran., Ashrafzadeh F; Department of Pediatrics, Mashhad University of Medical Sciences, Mashhad, Iran., Akhondian J; Pediatric Neurology Department, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran., Imannezhad S; Department of Pediatric Diseases, Mashhad University of Medical Sciences, Mashhad, Iran., Mirzadeh HS; Department of Pediatric Diseases, Mashhad University of Medical Sciences, Mashhad, Iran., Maqbool S; Development and Behavioral Pediatrics Department, Institute of Child Health and The Children Hospital, Lahore, Pakistan., Farid A; Development and Behavioral Pediatrics Department, Institute of Child Health and The Children Hospital, Lahore, Pakistan., Al-Muhaizea MA; Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., Alshwameen MO; Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., Aldowsari L; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., Alsagob M; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., Alyousef A; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., AlMass R; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., AlHargan A; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., Alwadei AH; Neurosciences Department, King Fahad Medical City, Riyadh, Saudi Arabia., AlRasheed MM; Department of Clinical Pharmacy, King Saud University, Riyadh, Saudi Arabia., Colak D; Department of Biostatistics, Epidemiology and Scientific Computing, KFSHRC, Riyadh, Kingdom of Saudi Arabia., Alqudairy H; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., Khan S; Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., Lines MA; Medical Genetics, Department of Pediatrics, Alberta Children's Hospital, Calgary, Canada., García Cazorla MÁ; Inborn Errors of Metabolism Unit, Hospital Sant Joan de Déu, Barcelona, Spain., Ribes A; Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica iGenètica Molecular, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain., Morava E; Department of Clinical Genomics, Laboratory of Medicine and Pathology, Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA., Bibi F; Institute of Biochemistry and Biotechnology, Pir Mehar Ali Shah Arid Agriculture University, Rawalpindi, Pakistan., Haider S; Izzat Ali Shah Hospital, Lalarukh Wah Cantt, Rawalpindi, Pakistan., Ferla MP; NIHR Oxford BRC Genomic Medicine, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Taylor JC; NIHR Oxford BRC Genomic Medicine, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Alsaif HS; Department of Translational Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., Firdous A; Department of Translational Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., Hashem M; Department of Translational Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., Shashkin C; International University of Postgraduate Education, Almaty, Kazakhstan., Koneev K; Department of Neurology and Neurosurgery, Asfendiyarov Kazakh National Medical University, Almaty, Kazakhstan., Kaiyrzhanov R; UCL Queen Square Institute of Neurology, University College London, London, UK., Efthymiou S; UCL Queen Square Institute of Neurology, University College London, London, UK., Genomics QS; UCL Queen Square Institute of Neurology, University College London, London, UK., Schmitt-Mechelke T; Department of Neuropaediatrics, Children's Hospital, Cantonal Hospital, Lucerne, Switzerland., Ziegler A; Zentrum für Kinder und Jugendmedizin Heidelberg, Sektion Neuropädiatrie und Stoffwechselmedizin, Universitätsklinikum Heidelberg, Heidelberg, Germany., Issa MY; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Elbendary HM; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Alkuraya FS; Department of Translational Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.; Department of Anatomy and Cell Biology, Alfaisal University, Riyadh, Saudi Arabia., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Gleeson JG; Department of Neuroscience, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, California, USA., Barakat TS; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands., Bierau J; Laboratory of Biochemical Genetics, Department of Clinical Genetics, Maastricht University Hospital, Maastricht, The Netherlands., van der Knaap MS; Department of Child Neurology, Emma Children's Hospital, Amsterdam Leukodystrophy Center, Amsterdam University Medical Centers, Vrije Universiteit and Amsterdam Neuroscience, Amsterdam, The Netherlands.; Department of Functional Genomics, Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, The Netherlands., Maroofian R; UCL Queen Square Institute of Neurology, University College London, London, UK., Houlden H; UCL Queen Square Institute of Neurology, University College London, London, UK.

المصدر: Human mutation [Hum Mutat] 2022 Mar; Vol. 43 (3), pp. 403-419. Date of Electronic Publication: 2022 Jan 12.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

مواضيع طبية MeSH: Epilepsy, Generalized* , Microcephaly*/pathology , Pyrophosphatases*/genetics, Humans ; Inosine ; Inosine Triphosphate ; Mutation ; Prognosis ; Inosine Triphosphatase

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