لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

المؤلفون: Wong BKY; Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas, United States of America.; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, Texas, United States of America., Murry JB; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America., Ramakrishnan R; Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas, United States of America.; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, Texas, United States of America., He F; Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas, United States of America., Balasa A; Department of Pediatrics, Section of Pediatrics Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, Texas, United States of America., Stinnett GR; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas, United States of America., Pedersen SE; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas, United States of America., Pautler RG; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas, United States of America., Van den Veyver IB; Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas, United States of America.; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, Texas, United States of America.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.

المصدر: PloS one [PLoS One] 2019 Nov 08; Vol. 14 (11), pp. e0224876. Date of Electronic Publication: 2019 Nov 08 (Print Publication: 2019).

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

بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

مواضيع طبية MeSH: Maternal Exposure* , Prenatal Exposure Delayed Effects* , Stress, Psychological*, Nerve Tissue Proteins/*genetics , White Matter/*metabolism , White Matter/*physiopathology, Animals ; Behavior, Animal ; Diffusion Tensor Imaging ; Female ; Hippocampus/metabolism ; Hippocampus/physiopathology ; Male ; Maternal Behavior ; Mice ; Microfilament Proteins ; Mutation ; Pregnancy ; White Matter/diagnostic imaging

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: Wong BKY; Departments of Obstetrics and Gynecology, Houston, Texas.; Jan and Dan Duncan Neurological Research Institute Texas Children's Hospital, Houston, Texas., Sutton VR; Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

المصدر: American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2018 Dec; Vol. 178 (4), pp. 423-431. Date of Electronic Publication: 2018 Dec 10.

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

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235745 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4876 (Electronic) Linking ISSN: 15524868 NLM ISO Abbreviation: Am J Med Genet C Semin Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Markers* , Genetic Testing* , Genetic Variation*, Aicardi Syndrome/*diagnosis , Aicardi Syndrome/*genetics, Aicardi Syndrome/classification ; DNA Copy Number Variations ; Humans ; Prognosis

المؤلفون: Wong BKY; Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia V5Z 4H4, Canada; Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, TX 77030, USA., Ehrnhoefer DE; Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia V5Z 4H4, Canada., Graham RK; Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia V5Z 4H4, Canada; Research Center on Aging, Department of Physiology and Biophysics, University of Sherbrooke, Sherbrooke, Quebec J1H 5N4, Canada., Martin DDO; Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia V5Z 4H4, Canada., Ladha S; Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia V5Z 4H4, Canada., Uribe V; Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia V5Z 4H4, Canada., Stanek LM; Genzyme, a Sanofi Company, Framingham, MA 01701, USA., Franciosi S; Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia V5Z 4H4, Canada., Qiu X; Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia V5Z 4H4, Canada., Deng Y; Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia V5Z 4H4, Canada., Kovalik V; Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia V5Z 4H4, Canada., Zhang W; Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia V5Z 4H4, Canada., Pouladi MA; Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia V5Z 4H4, Canada; Translational Laboratory in Genetic Medicine, Agency for Science, Technology and Research, 138648, Singapore; Department of Medicine, Yong Loo Lin School of Medicine, National University of Singapore, 138648, Singapore., Shihabuddin LS; Genzyme, a Sanofi Company, Framingham, MA 01701, USA., Hayden MR; Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia V5Z 4H4, Canada. Electronic address: mrh@cmmt.ubc.ca.

المصدر: Neurobiology of disease [Neurobiol Dis] 2015 Apr; Vol. 76, pp. 24-36. Date of Electronic Publication: 2015 Jan 09.

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

بيانات الدورية: Publisher: Academic Press Country of Publication: United States NLM ID: 9500169 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-953X (Electronic) Linking ISSN: 09699961 NLM ISO Abbreviation: Neurobiol Dis Subsets: MEDLINE

مواضيع طبية MeSH: Caspase 6/*metabolism , Huntington Disease/*enzymology , Serotonin Plasma Membrane Transport Proteins/*metabolism, Animals ; Body Weight ; Brain-Derived Neurotrophic Factor/metabolism ; Caspase 6/genetics ; Corpus Striatum/metabolism ; Depression/metabolism ; Disease Models, Animal ; Insulin-Like Growth Factor I/metabolism ; Mice ; Mice, Transgenic ; Motor Activity

المؤلفون: Wong B; Department of Medical Genetics, Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, 950 West 28th Avenue, Vancouver, BC, Canada. bibwong@cmmt.ubc.ca

المصدر: Clinical genetics [Clin Genet] 2011 Jan; Vol. 79 (1), pp. 47-8. Date of Electronic Publication: 2010 Oct 12.

نوع المنشور: Comment; Journal Article

بيانات الدورية: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: PubMed not MEDLINE