المؤلفون: Calame DG; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Guo T; School of Biomedical Sciences, Faculty of Medicine, the Chinese University of Hong Kong, Hong Kong SAR, China., Wang C; School of Biomedical Sciences, Faculty of Medicine, the Chinese University of Hong Kong, Hong Kong SAR, China., Garrett L; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany; Institute of Developmental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Jolly A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Medical Scientist Training Program, Baylor College of Medicine, Houston, TX, USA., Dawood M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Medical Scientist Training Program, Baylor College of Medicine, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Kurolap A; Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel., Henig NZ; Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel., Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Herman I; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Boys Town National Research Hospital, Boys Town, NE, USA., Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Becker L; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Rathkolb B; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany; Institute of Molecular Animal Breeding and Biotechnology, Gene Center, Ludwig-Maximilians University Munich, Munich, Germany; German Center for Diabetes Research (DZD), Ingolstädter Landstr. 1, 85764 Neuherberg, Germany., Gerlini R; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Seisenberger C; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Marschall S; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Hunter JV; Department of Radiology, Baylor College of Medicine, Houston, TX, USA; E.B. Singleton Department of Pediatric Radiology, Texas Children's Hospital, Houston, TX, USA., Gerard A; Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Heidlebaugh A; Autism & Developmental Medicine Institute, Geisinger, Danville, PA, USA., Challman T; Autism & Developmental Medicine Institute, Geisinger, Danville, PA, USA., Spillmann RC; Department of Pediatrics, Duke University Medical Center, Duke University, Durham, NC, USA., Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, University of Texas Health Science Center at Houston, Houston, TX, USA., Lalani S; Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Liu L; School of Biomedical Sciences, Faculty of Medicine, the Chinese University of Hong Kong, Hong Kong SAR, China., Revah-Politi A; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY, USA., Iglesias A; Division of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA., Guzman E; Division of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA., Baugh E; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA., Boddaert N; Paediatric Radiology Department, AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, 75015 Paris, France., Rondeau S; Service de Médecine Génomique des Maladies Rares - APHP, Hôpital Necker Enfants Malades, Université de Paris, Paris, France., Ormieres C; Service de Médecine Génomique des Maladies Rares - APHP, Hôpital Necker Enfants Malades, Université de Paris, Paris, France., Barcia G; Service de Médecine Génomique des Maladies Rares - APHP, Hôpital Necker Enfants Malades, Université de Paris, Paris, France., Tan QKG; Department of Pediatrics, Duke University Medical Center, Duke University, Durham, NC, USA., Thiffault I; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO, USA., Pastinen T; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO, USA; University of Missouri Kansas City School of Medicine, Kansas City, MO, USA., Sheikh K; Department of Neurology, UT Health Science Center at Houston, McGovern Medical School, Houston, TX, USA., Biliciler S; Department of Neurology, UT Health Science Center at Houston, McGovern Medical School, Houston, TX, USA., Mei D; Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy., Melani F; Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy., Shashi V; Department of Pediatrics, Duke University Medical Center, Duke University, Durham, NC, USA., Yaron Y; Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Steele M; Lifetime Neurodevelopmental Care, San Francisco, CA, USA., Wakeling E; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Østergaard E; Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Nazaryan-Petersen L; Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark; Department of Cellular and Molecular Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Millan F; GeneDx, Gaithersburg, MD, USA., Santiago-Sim T; GeneDx, Gaithersburg, MD, USA., Thevenon J; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Fédération Hospitalo-Universitaire Médecine TRANSLationnelle et Anomalies du Développement, Centre Hospitalier Universitaire Dijon, Equipe Genetics of Developmental Anomalies-INSERM UMR 1231, Dijon, France., Bruel AL; Functional Unit for Diagnostic Innovation in Rare Diseases, FHU-TRANSLAD, Dijon Bourgogne University Hospital, Dijon, France; INSERM UMR1231 GAD 'Génétique des Anomalies du Développement,' FHU-TRANSLAD, University of Burgundy, Dijon, France., Thauvin-Robinet C; INSERM UMR1231 GAD 'Génétique des Anomalies du Développement,' FHU-TRANSLAD, University of Burgundy, Dijon, France; Department of Genetics and Reference Center for Development Disorders and Intellectual Disabilities, Dijon Bourgogne University Hospital, Dijon, France., Popp D; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Gawlinski P; Institute of Mother and Child, Kasprzaka 17a, 02-211 Warsaw, Poland., Wiszniewski W; Oregon Health & Sciences University, 3181 SW Sam Jackson Park Road L103, Portland, OR, USA., Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait., Pehlivan D; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Gailus-Durner V; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Guerrini R; Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy; University of Florence, Florence, Italy., Fuchs H; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Hrabě de Angelis M; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany; German Center for Diabetes Research (DZD), Ingolstädter Landstr. 1, 85764 Neuherberg, Germany; Chair of Experimental Genetics, TUM School of Life Sciences, Technische Universität München, Alte Akademie 8, 85354 Freising, Germany., Hölter SM; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany; Institute of Developmental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany; Technische Universität München, Freising-Weihenstephan, Germany., Cheung HH; School of Biomedical Sciences, Faculty of Medicine, the Chinese University of Hong Kong, Hong Kong SAR, China., Gu S; School of Biomedical Sciences, Faculty of Medicine, the Chinese University of Hong Kong, Hong Kong SAR, China; Key Laboratory for Regenerative Medicine, Ministry of Education, School of Biomedical Sciences, Faculty of Medicine, the Chinese University of Hong Kong, Hong Kong SAR, China; Kunming Institute of Zoology Chinese Academy of Sciences, the Chinese University of Hong Kong Joint Laboratory of Bioresources and Molecular Research of Common Diseases, Hong Kong SAR, China. Electronic address: shengu@cuhk.edu.hk., Lupski JR; Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA. Electronic address: jlupski@bcm.edu.

مؤلفون مشاركون: Undiagnosed Diseases Network

المصدر: American journal of human genetics [Am J Hum Genet] 2023 Aug 03; Vol. 110 (8), pp. 1394-1413. Date of Electronic Publication: 2023 Jul 18.

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

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Charcot-Marie-Tooth Disease*/genetics , Neurodevelopmental Disorders*, Animals ; Humans ; Mice ; Cell Line ; DEAD-box RNA Helicases/genetics ; Dichlorodiphenyl Dichloroethylene ; DNA Helicases ; Mammals ; Neoplasm Proteins/genetics

المؤلفون: Paine I; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Grochowski CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Rosenheck S; Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, NY 11724, USA., Kleyner R; Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, NY 11724, USA., Marmorale T; Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, NY 11724, USA., Yoon M; Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, NY 11724, USA., Wang K; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Robison R; Utah Foundation for Biomedical Research, Salt Lake City, UT 84107, USA., Cappuccio G; Department of Translational Medicine, University of Naples 'Federico II,' 80131 Napoli, Italy; Telethon Institute of Genetics and Medicine, 80078 Pozzuoli, Italy., Pinelli M; Department of Translational Medicine, University of Naples 'Federico II,' 80131 Napoli, Italy; Telethon Institute of Genetics and Medicine, 80078 Pozzuoli, Italy., Magli A; Department of Pediatric Ophthalmology, University of Salerno, 84081 Baronissi SA, Italy., Coban Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Hui J; Department of Pediatrics, Prince of Wales Hospital, the Chinese University of Hong Kong, Hong Kong SAR, China., Yeung WL; Department of Pediatrics and Adolescent Medicine, Alice Ho Miu Ling Nethersole Hospital, Hong Kong SAR, China., Wong BKY; Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, TX 77030, USA; The Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA., Ortega L; Medical Genetics Department, Cook Children's Hospital, Fort Worth, TX 76104, USA., Bekheirnia MR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Section of Pediatric Renal, Baylor College of Medicine, Houston, TX 77030, USA; Department of Genetics, Texas Children's Hospital, Houston, TX 76104, USA., Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Johannsen J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Santer R; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Aktas D; DAMAGEN Genetic Diagnostic Center, 06690 Ankara, Turkey., Alikasifoglu M; DAMAGEN Genetic Diagnostic Center, 06690 Ankara, Turkey., Bozdogan S; Department of Medical Genetics, Cukurova University Faculty of Medicine, 01330 Adana, Turkey., Aydin H; Department of Medical Genetics, Medical Faculty of Namik Kemal University, Tekirdag 59100, Turkey., Karaca E; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA., Bayram Y; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York City, NY 10029, USA., Ityel H; Division of Nephrology, Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA., Dorschner M; Center for Precision Diagnostics, University of Washington, Seattle, WA 98195, USA., White JJ; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Wilichowski E; Department of Pediatrics and Pediatric Neurology, Georg-August-Universität Göttingen, 37075 Göttingen, Germany., Wortmann SB; Institute of Human Genetics, Technical University München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum Munchen, 85764 Neuherberg, Germany; University Children's Hospital, Paracelsus Medical University, 5020 Salsburg, Austria., Casella EB; Children's Institute, Hospital das Clinicas, University of Sao Paulo, 05405-000 Sao Paulo, Brazil., Kitajima JP; Mendelics Genomic Analysis, 04013-000 Sao Paulo, Brazil., Kok F; Mendelics Genomic Analysis, 04013-000 Sao Paulo, Brazil; Department of Neurology, University of Sao Paulo School of Medicine, 01246-903 Sao Paulo, Brazil., Monteiro F; Mendelics Genomic Analysis, 04013-000 Sao Paulo, Brazil., Muzny DM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Bamshad M; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA., Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Van Esch H; Center for Human Genetics, University Hospitals Leuven, 3000 Leuven, Belgium., Brunetti-Pierri N; Department of Translational Medicine, University of Naples 'Federico II,' 80131 Napoli, Italy; Telethon Institute of Genetics and Medicine, 80078 Pozzuoli, Italy., Hildebrandt F; Division of Nephrology, Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA., Brautbar A; Medical Genetics Department, Cook Children's Hospital, Fort Worth, TX 76104, USA., Van den Veyver IB; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, TX 77030, USA; The Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA., Glass I; Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA., Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Lyon GJ; Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, NY 11724, USA; Utah Foundation for Biomedical Research, Salt Lake City, UT 84107, USA; Institute for Basic Research in Developmental Disabilities, Staten Island, NY 10314, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address: jlupski@bcm.edu.

مؤلفون مشاركون: University of Washington Center for Mendelian Genomics, Baylor-Hopkins Center for Mendelian Genomics, Telethon Undiagnosed Diseases Program

المصدر: American journal of human genetics [Am J Hum Genet] 2019 Aug 01; Vol. 105 (2), pp. 302-316. Date of Electronic Publication: 2019 Jun 27.

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

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Mutation, Missense*, DEAD-box RNA Helicases/*genetics , Neoplasm Proteins/*genetics , Neurodevelopmental Disorders/*genetics , Neurodevelopmental Disorders/*pathology , RNA Helicases/*genetics, Female ; Genetic Association Studies ; Humans ; Infant ; Infant, Newborn ; Male ; Pedigree ; Exome Sequencing

المؤلفون: Rutsch F; Department of General Pediatrics, Muenster University Children's Hospital, 48149 Muenster, Germany. Electronic address: rutschf@ukmuenster.de., MacDougall M; Institute of Oral Health Research, School of Dentistry, University of Alabama at Birmingham, Birmingham, AL 35294, USA. Electronic address: macdougall@uab.edu., Lu C; Institute of Oral Health Research, School of Dentistry, University of Alabama at Birmingham, Birmingham, AL 35294, USA., Buers I; Department of General Pediatrics, Muenster University Children's Hospital, 48149 Muenster, Germany., Mamaeva O; Institute of Oral Health Research, School of Dentistry, University of Alabama at Birmingham, Birmingham, AL 35294, USA., Nitschke Y; Department of General Pediatrics, Muenster University Children's Hospital, 48149 Muenster, Germany., Rice GI; Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester M13 9PT, UK., Erlandsen H; Institute of Oral Health Research, School of Dentistry, University of Alabama at Birmingham, Birmingham, AL 35294, USA., Kehl HG; Department of Pediatric Cardiology, Muenster University Children's Hospital, 48149 Muenster, Germany., Thiele H; Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany., Nürnberg P; Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases, University of Cologne, 50931 Cologne, Germany., Höhne W; Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany., Crow YJ; Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester M13 9PT, UK; INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris 75015, France; Paris Descartes - Sorbonne Paris Cité University, Institute Imagine, Paris 75006, France., Feigenbaum A; Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of San Diego, San Diego, CA 92123, USA., Hennekam RC; Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam 1105 AZ, the Netherlands.

المصدر: American journal of human genetics [Am J Hum Genet] 2015 Feb 05; Vol. 96 (2), pp. 275-82. Date of Electronic Publication: 2015 Jan 22.

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

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Models, Molecular* , Phenotype*, Aortic Diseases/*genetics , DEAD-box RNA Helicases/*genetics , Dental Enamel Hypoplasia/*genetics , Metacarpus/*abnormalities , Muscular Diseases/*genetics , Odontodysplasia/*genetics , Osteoporosis/*genetics , Vascular Calcification/*genetics, Amino Acid Sequence ; Arteries/pathology ; Base Sequence ; Calcinosis/genetics ; Calcinosis/pathology ; DEAD-box RNA Helicases/chemistry ; DEAD-box RNA Helicases/metabolism ; Exome/genetics ; Genes, Dominant/genetics ; Humans ; Immunohistochemistry ; Interferon-Induced Helicase, IFIH1 ; Interferon-beta/metabolism ; Molecular Sequence Data ; Mutation, Missense/genetics ; Pedigree ; Sequence Analysis, DNA ; Tooth Abnormalities/genetics ; Tooth Abnormalities/pathology

SCR Disease Name: Singleton Merten syndrome

المؤلفون: Alzahrani F; Deparment of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia., Kuwahara H; Computational Bioscience Research Center, Computer, Electrical, and Mathematical Sciences and Engineering Division, King Abdullah University of Science and Technology, Thuwal 23955, Saudi Arabia., Long Y; Computational Bioscience Research Center, Computer, Electrical, and Mathematical Sciences and Engineering Division, King Abdullah University of Science and Technology, Thuwal 23955, Saudi Arabia., Al-Owain M; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia., Tohary M; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia., AlSayed M; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia., Mahnashi M; Division of Genetics, Department of Pediatrics, King Fahad Central Hospital, Jazan 82666, Saudi Arabia., Fathi L; Division of Genetics, Department of Pediatrics, King Fahad Central Hospital, Jazan 82666, Saudi Arabia., Alnemer M; Department of Obstetrics and Gynecology, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia., Al-Hamed MH; Deparment of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia., Lemire G; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada., Boycott KM; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada., Hashem M; Deparment of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia., Han W; Computational Bioscience Research Center, Computer, Electrical, and Mathematical Sciences and Engineering Division, King Abdullah University of Science and Technology, Thuwal 23955, Saudi Arabia., Al-Maawali A; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat 123, Oman; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat 123, Oman., Al Mahrizi F; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat 123, Oman., Al-Thihli K; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat 123, Oman; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat 123, Oman., Gao X; Computational Bioscience Research Center, Computer, Electrical, and Mathematical Sciences and Engineering Division, King Abdullah University of Science and Technology, Thuwal 23955, Saudi Arabia. Electronic address: xin.gao@kaust.edu.sa., Alkuraya FS; Deparment of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia; Deparment of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia. Electronic address: falkuraya@kfshrc.edu.sa.

المصدر: American journal of human genetics [Am J Hum Genet] 2020 Dec 03; Vol. 107 (6), pp. 1178-1185. Date of Electronic Publication: 2020 Nov 25.

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

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Nonsense Mediated mRNA Decay*, Developmental Disabilities/*genetics , Intracellular Signaling Peptides and Proteins/*genetics, Adolescent ; Brain/abnormalities ; Child ; Child, Preschool ; Consanguinity ; Developmental Disabilities/metabolism ; Family Health ; Female ; Gene Deletion ; Genetic Linkage ; Heart Defects, Congenital/genetics ; Homozygote ; Humans ; Infant ; Male ; Pedigree ; Phenotype ; Phosphorylation ; RNA Helicases/metabolism ; RNA, Messenger/metabolism ; RNA-Seq ; Trans-Activators/metabolism ; Young Adult

المؤلفون: Jang MA; Departments of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135-710, Korea., Kim EK; Division of Cardiology, Department of Medicine, Heart Vascular Stroke Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135-710, Korea., Now H; Department of Life Sciences, Pohang University of Science and Technology, Pohang 790-784, Korea., Nguyen NT; Department of Life Sciences, Pohang University of Science and Technology, Pohang 790-784, Korea., Kim WJ; Department of Life Sciences, Pohang University of Science and Technology, Pohang 790-784, Korea., Yoo JY; Department of Life Sciences, Pohang University of Science and Technology, Pohang 790-784, Korea., Lee J; Korean Bioinformation Center, Korea Research Institute of Bioscience and Biotechnology, Daejeon 305-806, Korea; Department of Bioinformatics, University of Sciences and Technology, Daejeon 305-350, Korea., Jeong YM; Department of Biology, Chungnam National University, Daejeon 305-764, Korea., Kim CH; Department of Biology, Chungnam National University, Daejeon 305-764, Korea., Kim OH; Department of Radiology, Woorisoa Children's Hospital, Seoul 152-862, Korea., Sohn S; Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135-710, Korea., Nam SH; Samsung SDS, Seoul 138-240, Korea., Hong Y; Samsung SDS, Seoul 138-240, Korea., Lee YS; Samsung SDS, Seoul 138-240, Korea., Chang SA; Division of Cardiology, Department of Medicine, Heart Vascular Stroke Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135-710, Korea., Jang SY; Division of Cardiology, Department of Medicine, Heart Vascular Stroke Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135-710, Korea., Kim JW; Departments of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135-710, Korea., Lee MS; Division of Endocrinology and Metabolism, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135-710, Korea., Lim SY; Department of Plastic Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135-710, Korea., Sung KS; Department of Orthopedic Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135-710, Korea., Park KT; Department of Pediatric Dentistry, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135-710, Korea., Kim BJ; Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135-710, Korea., Lee JH; Department of Dermatology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135-710, Korea., Kim DK; Division of Cardiology, Department of Medicine, Heart Vascular Stroke Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135-710, Korea., Kee C; Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135-710, Korea. Electronic address: ckee@skku.edu., Ki CS; Departments of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135-710, Korea. Electronic address: changski@skku.edu.

المصدر: American journal of human genetics [Am J Hum Genet] 2015 Feb 05; Vol. 96 (2), pp. 266-74. Date of Electronic Publication: 2015 Jan 22.

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

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Models, Molecular*, Aortic Diseases/*genetics , DEAD-box RNA Helicases/*genetics , Dental Enamel Hypoplasia/*genetics , Glaucoma/*genetics , Metacarpus/*abnormalities , Muscular Diseases/*genetics , Odontodysplasia/*genetics , Osteoporosis/*genetics , Vascular Calcification/*genetics, Adult ; Aortic Diseases/pathology ; Base Sequence ; Cells, Cultured ; Child, Preschool ; DEAD Box Protein 58 ; DEAD-box RNA Helicases/chemistry ; Dental Enamel Hypoplasia/pathology ; Exome/genetics ; Female ; Genes, Dominant/genetics ; Humans ; Male ; Metacarpus/pathology ; Molecular Sequence Data ; Muscular Diseases/pathology ; Musculoskeletal Abnormalities/diagnostic imaging ; Musculoskeletal Abnormalities/genetics ; Mutation, Missense/genetics ; Odontodysplasia/diagnostic imaging ; Odontodysplasia/pathology ; Osteoporosis/pathology ; Pedigree ; Polymorphism, Single Nucleotide/genetics ; Radiography ; Receptors, Immunologic ; Sequence Analysis, DNA ; Vascular Calcification/pathology

SCR Disease Name: Singleton Merten syndrome

المؤلفون: Oda H; Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto 6068507, Japan; Laboratory for Integrative Genomics, RIKEN Center for Integrative Medical Sciences, Yokohama 2300045, Japan., Nakagawa K; Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto 6068507, Japan., Abe J; Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto 6068507, Japan; Department of Pediatrics, Kitano Hospital, Tazuke Kofukai Medical Research Institute, Osaka 5308480, Japan., Awaya T; Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto 6068507, Japan., Funabiki M; Laboratory of Molecular Genetics, Institute for Virus Research, Kyoto University, Kyoto 6068507, Japan., Hijikata A; Department of Bioscience, Nagahama Institute of Bio-Science and Technology, Nagahama 5260829, Japan., Nishikomori R; Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto 6068507, Japan. Electronic address: rnishiko@kuhp.kyoto-u.ac.jp., Funatsuka M; Department of Pediatrics, Tokyo Women's Medical University, Tokyo 1628666, Japan., Ohshima Y; Department of Pediatrics, Faculty of Medical Sciences, University of Fukui, Fukui 9108507, Japan., Sugawara Y; Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo 1138510, Japan., Yasumi T; Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto 6068507, Japan., Kato H; Laboratory of Molecular Genetics, Institute for Virus Research, Kyoto University, Kyoto 6068507, Japan; Precursory Research for Embryonic Science and Technology (PRESTO), Science and Technology Agency (JST), Kawaguchi 3320012, Japan., Shirai T; Department of Bioscience, Nagahama Institute of Bio-Science and Technology, Nagahama 5260829, Japan., Ohara O; Laboratory for Integrative Genomics, RIKEN Center for Integrative Medical Sciences, Yokohama 2300045, Japan; Department of Human Genome Research, Kazusa DNA Research Institute, Kisarazu 2920818, Japan., Fujita T; Laboratory of Molecular Genetics, Institute for Virus Research, Kyoto University, Kyoto 6068507, Japan., Heike T; Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto 6068507, Japan.

المصدر: American journal of human genetics [Am J Hum Genet] 2014 Jul 03; Vol. 95 (1), pp. 121-5.

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

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Mutation, Missense*, Autoimmune Diseases of the Nervous System/*genetics , DEAD-box RNA Helicases/*genetics , Nervous System Malformations/*genetics, Amino Acid Sequence ; Animals ; DEAD-box RNA Helicases/chemistry ; Female ; Humans ; Interferon-Induced Helicase, IFIH1 ; Japan ; Male ; Molecular Sequence Data ; Pedigree ; Sequence Homology, Amino Acid

SCR Disease Name: Aicardi-Goutieres syndrome

المؤلفون: Favaro FP; Departamento de Genética Clínica, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo (HRAC-USP), 17012-090, Bauru, São Paulo, Brasil., Alvizi L; Centro de Estudos do Genoma Humano, Instituto de Biociências, Universidade de São Paulo, 05508-090, São Paulo, São Paulo, Brasil., Zechi-Ceide RM; Departamento de Genética Clínica, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo (HRAC-USP), 17012-090, Bauru, São Paulo, Brasil., Bertola D; Centro de Estudos do Genoma Humano, Instituto de Biociências, Universidade de São Paulo, 05508-090, São Paulo, São Paulo, Brasil., Felix TM; Hospital das Clínicas de Porto Alegre, Departamento de Genética, Universidade Federal do Rio Grande do Sul, 90035-903, Porto Alegre, Rio Grande do Sul, Brasil., de Souza J; Centro de Atendimento Integral ao Fissurado Lábio Palatal, 80150-000, Curitiba, Paraná, Brasil., Raskin S; Núcleo de Investigação Molecular Avançada, Centro de Ciências Biológicas e da Saúde, Pontifícia Universidade Católica do Paraná, 80150-000, Curitiba, Paraná, Brasil., Twigg SR; Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford OX3 9DS, UK., Weiner AM; Instituto de Biología Molecular y Celular de Rosario (IBR), Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET) - Facultad de Ciencias Bioquímicas y Farmacéuticas, Universidad Nacional de Rosario, S2000FHQ, Rosario, Argentina., Armas P; Instituto de Biología Molecular y Celular de Rosario (IBR), Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET) - Facultad de Ciencias Bioquímicas y Farmacéuticas, Universidad Nacional de Rosario, S2000FHQ, Rosario, Argentina., Margarit E; Instituto de Biología Molecular y Celular de Rosario (IBR), Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET) - Facultad de Ciencias Bioquímicas y Farmacéuticas, Universidad Nacional de Rosario, S2000FHQ, Rosario, Argentina., Calcaterra NB; Instituto de Biología Molecular y Celular de Rosario (IBR), Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET) - Facultad de Ciencias Bioquímicas y Farmacéuticas, Universidad Nacional de Rosario, S2000FHQ, Rosario, Argentina., Andersen GR; Department of Molecular Biology and Genetics. Aarhus University, Gustav Wieds Vej 10C, 8000 Aarhus, Denmark., McGowan SJ; Computational Biology Research Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford OX3 9DS, UK., Wilkie AO; Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford OX3 9DS, UK., Richieri-Costa A; Departamento de Genética Clínica, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo (HRAC-USP), 17012-090, Bauru, São Paulo, Brasil., de Almeida ML; Departamento de Genética Clínica, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo (HRAC-USP), 17012-090, Bauru, São Paulo, Brasil., Passos-Bueno MR; Centro de Estudos do Genoma Humano, Instituto de Biociências, Universidade de São Paulo, 05508-090, São Paulo, São Paulo, Brasil. Electronic address: passos@ib.usp.br.

المصدر: American journal of human genetics [Am J Hum Genet] 2014 Jan 02; Vol. 94 (1), pp. 120-8. Date of Electronic Publication: 2013 Dec 19.

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

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Clubfoot/*genetics , DEAD-box RNA Helicases/*genetics , Eukaryotic Initiation Factor-4A/*genetics , Hand Deformities, Congenital/*genetics , Pierre Robin Syndrome/*genetics, Alleles ; Amino Acid Sequence ; Animals ; Bone and Bones/abnormalities ; Child ; Child, Preschool ; Chromosome Mapping ; DEAD-box RNA Helicases/metabolism ; Eukaryotic Initiation Factor-4A/metabolism ; Female ; Humans ; Male ; Molecular Sequence Data ; Mutation, Missense ; Protein Conformation ; Zebrafish/abnormalities

SCR Disease Name: Richieri Costa Pereira syndrome

المؤلفون: Balak C; Translational Genomics Research Institute, Neurogenomics Division, Phoenix, AZ 85004, USA; Translational Genomics Research Institute's Center for Rare Childhood Disorders, Phoenix, AZ 85012, USA. Electronic address: cbalak@ucsd.edu., Benard M; Sorbonne Université, CNRS, Institut de Biologie Paris-Seine, Laboratoire de Biologie du Développement, F-75005 Paris, France., Schaefer E; Medical Genetics Department, University Hospitals of Strasbourg, the Institute of Medical Genetics of Alsace, 67000 Strasbourg, France; Laboratoire de Génétique Médicale, Institut de Génétique Médicale d'Alsace, INSERM U1112, Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, 67081 Strasbourg, France., Iqbal S; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA., Ramsey K; Translational Genomics Research Institute, Neurogenomics Division, Phoenix, AZ 85004, USA; Translational Genomics Research Institute's Center for Rare Childhood Disorders, Phoenix, AZ 85012, USA., Ernoult-Lange M; Sorbonne Université, CNRS, Institut de Biologie Paris-Seine, Laboratoire de Biologie du Développement, F-75005 Paris, France., Mattioli F; Institute of Genetics and Molecular and Cellular Biology, Illkirch, France; French National Center for Scientific Research, UMR7104, 67400 Illkirch, France; National Institute of Health and Medical Research U964, 67400 Illkirch, France; University of Strasbourg, 67081 Illkirch, France., Llaci L; Translational Genomics Research Institute, Neurogenomics Division, Phoenix, AZ 85004, USA; Translational Genomics Research Institute's Center for Rare Childhood Disorders, Phoenix, AZ 85012, USA., Geoffroy V; Laboratoire de Génétique Médicale, Institut de Génétique Médicale d'Alsace, INSERM U1112, Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, 67081 Strasbourg, France., Courel M; Sorbonne Université, CNRS, Institut de Biologie Paris-Seine, Laboratoire de Biologie du Développement, F-75005 Paris, France., Naymik M; Translational Genomics Research Institute, Neurogenomics Division, Phoenix, AZ 85004, USA; Translational Genomics Research Institute's Center for Rare Childhood Disorders, Phoenix, AZ 85012, USA., Bachman KK; Geisinger Medical Center, Dansville, PA 17822, USA., Pfundt R; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 GZ Groningen, the Netherlands., Rump P; Radboud University Nijmegen Medical Center, Department of Human Genetics, Division of Genome Diagnostics, 6525 GA Nijmegen, the Netherlands., Ter Beest J; Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 GZ Groningen, the Netherlands., Wentzensen IM; GeneDx, Gaithersburg, MD 20877, USA., Monaghan KG; GeneDx, Gaithersburg, MD 20877, USA., McWalter K; GeneDx, Gaithersburg, MD 20877, USA., Richholt R; Translational Genomics Research Institute, Neurogenomics Division, Phoenix, AZ 85004, USA., Le Béchec A; Medical Bioinformatics Unit, UF7363, Strasbourg University Hospital, 67000 Strasbourg, France., Jepsen W; Translational Genomics Research Institute, Neurogenomics Division, Phoenix, AZ 85004, USA; Translational Genomics Research Institute's Center for Rare Childhood Disorders, Phoenix, AZ 85012, USA., De Both M; Translational Genomics Research Institute, Neurogenomics Division, Phoenix, AZ 85004, USA; Translational Genomics Research Institute's Center for Rare Childhood Disorders, Phoenix, AZ 85012, USA., Belnap N; Translational Genomics Research Institute's Center for Rare Childhood Disorders, Phoenix, AZ 85012, USA., Boland A; Centre National de Recherche en Génomique Humaine, Institut de Biologie François Jacob, CEA, Université Paris-Saclay, F-91057, Evry, France., Piras IS; Translational Genomics Research Institute, Neurogenomics Division, Phoenix, AZ 85004, USA; Translational Genomics Research Institute's Center for Rare Childhood Disorders, Phoenix, AZ 85012, USA., Deleuze JF; Centre National de Recherche en Génomique Humaine, Institut de Biologie François Jacob, CEA, Université Paris-Saclay, F-91057, Evry, France., Szelinger S; Translational Genomics Research Institute, Neurogenomics Division, Phoenix, AZ 85004, USA; Translational Genomics Research Institute's Center for Rare Childhood Disorders, Phoenix, AZ 85012, USA., Dollfus H; Medical Genetics Department, University Hospitals of Strasbourg, the Institute of Medical Genetics of Alsace, 67000 Strasbourg, France; Laboratoire de Génétique Médicale, Institut de Génétique Médicale d'Alsace, INSERM U1112, Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, 67081 Strasbourg, France., Chelly J; Institute of Genetics and Molecular and Cellular Biology, Illkirch, France; French National Center for Scientific Research, UMR7104, 67400 Illkirch, France; National Institute of Health and Medical Research U964, 67400 Illkirch, France; University of Strasbourg, 67081 Illkirch, France; Molecular Genetics Unit, Strasbourg University Hospital, 67000 Strasbourg, France., Muller J; Laboratoire de Génétique Médicale, Institut de Génétique Médicale d'Alsace, INSERM U1112, Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, 67081 Strasbourg, France; Molecular Genetics Unit, Strasbourg University Hospital, 67000 Strasbourg, France., Campbell A; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA., Lal D; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, OH 44195, USA; Genomic Medicine Institute, Lerner Research Institute Cleveland Clinic, Cleveland, OH 44195, USA; Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany., Rangasamy S; Translational Genomics Research Institute, Neurogenomics Division, Phoenix, AZ 85004, USA; Translational Genomics Research Institute's Center for Rare Childhood Disorders, Phoenix, AZ 85012, USA., Mandel JL; Institute of Genetics and Molecular and Cellular Biology, Illkirch, France; French National Center for Scientific Research, UMR7104, 67400 Illkirch, France; National Institute of Health and Medical Research U964, 67400 Illkirch, France; University of Strasbourg, 67081 Illkirch, France; University of Strasbourg Institute of Advanced Studies, 67081 Strasbourg, France., Narayanan V; Translational Genomics Research Institute, Neurogenomics Division, Phoenix, AZ 85004, USA; Translational Genomics Research Institute's Center for Rare Childhood Disorders, Phoenix, AZ 85012, USA., Huentelman M; Translational Genomics Research Institute, Neurogenomics Division, Phoenix, AZ 85004, USA; Translational Genomics Research Institute's Center for Rare Childhood Disorders, Phoenix, AZ 85012, USA., Weil D; Sorbonne Université, CNRS, Institut de Biologie Paris-Seine, Laboratoire de Biologie du Développement, F-75005 Paris, France., Piton A; Institute of Genetics and Molecular and Cellular Biology, Illkirch, France; French National Center for Scientific Research, UMR7104, 67400 Illkirch, France; National Institute of Health and Medical Research U964, 67400 Illkirch, France; University of Strasbourg, 67081 Illkirch, France; Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, OH 44195, USA. Electronic address: piton@igbmc.fr.

المصدر: American journal of human genetics [Am J Hum Genet] 2019 Sep 05; Vol. 105 (3), pp. 509-525. Date of Electronic Publication: 2019 Aug 15.

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

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Mutation, Missense*, DEAD-box RNA Helicases/*genetics , Intellectual Disability/*genetics , Proto-Oncogene Proteins/*genetics , RNA/*genetics, Humans

المؤلفون: van der Lelij P; Department of Clinical Genetics, VU University Medical Center, Van der Boechorststraat 7, Amsterdam, The Netherlands., Chrzanowska KH, Godthelp BC, Rooimans MA, Oostra AB, Stumm M, Zdzienicka MZ, Joenje H, de Winter JP

المصدر: American journal of human genetics [Am J Hum Genet] 2010 Feb 12; Vol. 86 (2), pp. 262-6. Date of Electronic Publication: 2010 Feb 04.

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

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Chromosome Breakage*, Abnormalities, Multiple/*enzymology , Abnormalities, Multiple/*genetics , DEAD-box RNA Helicases/*genetics , DNA Helicases/*genetics , Mutation/*genetics , Sister Chromatid Exchange/*genetics , Xeroderma Pigmentosum/*genetics, Adolescent ; Base Sequence ; Child, Preschool ; DEAD-box RNA Helicases/deficiency ; DNA Helicases/deficiency ; DNA Mutational Analysis ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Molecular Sequence Data ; Neoplasms/genetics ; Pedigree ; Phenotype ; Poland ; Pregnancy ; Syndrome

المؤلفون: Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany; Undiagnosed Disease Program at the University Medical Center Hamburg-Eppendorf (UDP-UKE), Martinistraße 52, 20246 Hamburg, Germany. Electronic address: d.lessel@uke.de., Schob C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Küry S; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex, France., Reijnders MRF; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands., Harel T; Department of Genetic and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel 9112001., Eldomery MK; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Denecke J; Department of Pediatrics, University Medical Center Eppendorf, 20246 Hamburg, Germany., Edvardson S; Pediatric Neurology Unit, Hadassah-Hebrew University Medical Center, Jerusalem, Israel 9112001; Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel 9112001., Colin E; Department of Biochemistry and Genetics, University Hospital, 49933 Angers Cedex 9, France; Equipe MitoLab, CNRS UMR 6015, Inserm U1083, Institut MitoVasc of Angers, CHU Bât IRIS/IBS, Rue des Capucins, 49933 Angers Cedex, France., Stegmann APA; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, the Netherlands., Gerkes EH; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands., Tessarech M; Department of Biochemistry and Genetics, University Hospital, 49933 Angers Cedex 9, France; Equipe MitoLab, CNRS UMR 6015, Inserm U1083, Institut MitoVasc of Angers, CHU Bât IRIS/IBS, Rue des Capucins, 49933 Angers Cedex, France., Bonneau D; Department of Biochemistry and Genetics, University Hospital, 49933 Angers Cedex 9, France; Equipe MitoLab, CNRS UMR 6015, Inserm U1083, Institut MitoVasc of Angers, CHU Bât IRIS/IBS, Rue des Capucins, 49933 Angers Cedex, France., Barth M; Department of Biochemistry and Genetics, University Hospital, 49933 Angers Cedex 9, France; Equipe MitoLab, CNRS UMR 6015, Inserm U1083, Institut MitoVasc of Angers, CHU Bât IRIS/IBS, Rue des Capucins, 49933 Angers Cedex, France., Besnard T; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex, France., Cogné B; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex, France., Revah-Politi A; Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA., Strom TM; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute of Human Genetics, Technical University of Munich, 81675 Munich, Germany., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Immken L; Clinical Genetics, Specially for Children, Austin, TX 78723, USA., Oundjian N; Valley Hospital, Ridgewood, NJ, USA., Helbig KL; Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, California, USA., Meeks N; Division of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO, USA; Clinical Genetics, Children's Hospital Colorado, Aurora, CO, USA., Zegar K; Division of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO, USA; Clinical Genetics, Children's Hospital Colorado, Aurora, CO, USA., Morton J; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's NHS Foundation Trust, B15 2TG Birmingham, UK., Schieving JH; Department of Pediatric Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Claasen A; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona, USA., Huentelman M; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona, USA., Narayanan V; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona, USA., Ramsey K; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona, USA., Brunner HG; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands., Elpeleg O; Department of Genetic and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel 9112001; Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel 9112001., Mercier S; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex, France., Bézieau S; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex, France., Kubisch C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany; Undiagnosed Disease Program at the University Medical Center Hamburg-Eppendorf (UDP-UKE), Martinistraße 52, 20246 Hamburg, Germany., Kleefstra T; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands., Kindler S; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Baylor Genetics Laboratories, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Kreienkamp HJ; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany. Electronic address: kreienkamp@uke.de.

مؤلفون مشاركون: DDD study, C4RCD Research Group

المصدر: American journal of human genetics [Am J Hum Genet] 2017 Nov 02; Vol. 101 (5), pp. 716-724.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Developmental Disabilities/*genetics , Mutation, Missense/*genetics , RNA Helicases/*genetics, Adenosine Triphosphatases/genetics ; Adolescent ; Amino Acids/genetics ; Cell Line ; Cell Line, Tumor ; Central Nervous System/pathology ; Child ; Child, Preschool ; Female ; HEK293 Cells ; Humans ; Intellectual Disability/genetics ; Male ; RNA/genetics