المؤلفون: Hsu, SC, Sears, RL, Lemos, RR, Quintans, B, Huang, A, Spiteri, E, Nevarez, L, Mamah, C, Zatz, M, Pierce, KD, Fullerton, JM, Adair, JC, Berner, JE, Bower, M, Brodaty, H, Carmona, O, Dobricic, V, Fogel, BL, Garcia-Estevez, D, Goldman, J, Goudreau, JL, Hopfer, S, Jankovic, M, Jauma, S, Jen, JC, Kirdlarp, S, Klepper, J, Kostic, V, Lang, AE, Linglart, A, Maisenbacher, MK, Manyam, BV, Mazzoni, P, Miedzybrodzka, Z, Mitarnun, W, Mitchell, PB, Mueller, J, Novakovic, I, Paucar, M, Paulson, H, Simpson, SA, Svenningsson, P, Tuite, P, Vitek, J, Wetchaphanphesat, S, Williams, C, Yang, M, Schofield, PR, de Oliveira, JRM, Sobrido, MJ, Geschwind, DH, Coppola, G

المصدر: Neurogenetics. 14(1):11-22

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:126136280

المؤلفون: Legati, A, Giovannini, D, Nicolas, G, Lopez-Sanchez, U, Quintans, B, Oliveira, JRM, Sears, RL, Ramos, EM, Spiteri, E, Sobrido, MJ, Carracedo, A, Castro-Fernandez, C, Cubizolle, S, Fogel, BL, Goizet, C, Jen, JC, Kirdlarp, S, Lang, AE, Miedzybrodzka, Z, Mitarnun, W, Paucar, M, Paulson, H, Pariente, J, Richard, AC, Salins, NS, Simpson, SA, Striano, P, Svenningsson, P, Tison, F, Unni, VK, Vanakker, O, Wessels, MW, Wetchaphanphesat, S, Yang, M, Boller, F, Campion, D, Hannequin, D, Sitbon, M, Geschwind, DH, Battini, JL, Coppola, G

المصدر: Nature genetics. 47(6):579-581

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:131352775

المؤلفون: Keller, A, Westenberger, A, Sobrido, MJ, Garcia-Murias, M, Domingo, A, Sears, RL, Lemos, RR, Ordonez-Ugalde, A, Nicolas, G, da Cunha, JE, Rushing, EJ, Hugelshofer, M, Wurnig, MC, Kaech, A, Reimann, R, Lohmann, K, Dobricic, V, Carracedo, A, Petrovic, I, Miyasaki, JM, Abakumova, I, Mae, MA, Raschperger, E, Zatz, M, Zschiedrich, K, Klepper, J, Spiteri, E, Prieto, JM, Navas, I, Preuss, M, Dering, C, Jankovic, M, Paucar, M, Svenningsson, P, Saliminejad, K, Khorshid, HRK, Novakovic, I, Aguzzi, A, Boss, A, Le Ber, I, Defer, G, Hannequin, D, Kostic, VS, Campion, D, Geschwind, DH, Coppola, G, Betsholtz, C, Klein, C, Oliveira, JRM

المصدر: Nature genetics. 45(9):1077

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:127291533

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المؤلفون: Gong B; Division of Bioinformatics and Biostatistics, National Center for Toxicological Research, U.S. Food and Drug Administration, Jefferson, AR, 72079, USA., Li D; Division of Bioinformatics and Biostatistics, National Center for Toxicological Research, U.S. Food and Drug Administration, Jefferson, AR, 72079, USA., Zhang Y; Division of Bioinformatics and Biostatistics, National Center for Toxicological Research, U.S. Food and Drug Administration, Jefferson, AR, 72079, USA., Kusko R; Cellino Bio, 750 Main Street, Cambridge, MA, 02143, USA., Lababidi S; Office of Data Analytics and Research, Office of Digital Transformation, Office of the Commissioner, U.S. Food and Drug Administration, Silver Spring, MD, 20993, USA., Cao Z; State Key Laboratory of Genetic Engineering, School of Life Sciences and Human Phenome Institute, Fudan University, Shanghai, 200438, China., Chen M; Human Phenome Institute, Fudan University, Shanghai, 201203, China., Chen N; iGeneTech Bioscience Co., Ltd., 8 Shengmingyuan Rd., Changping, Beijing, China., Chen Q; State Key Laboratory of Genetic Engineering, School of Life Sciences and Human Phenome Institute, Fudan University, Shanghai, 200438, China., Chen Q; State Key Laboratory of Genetic Engineering, School of Life Sciences and Human Phenome Institute, Fudan University, Shanghai, 200438, China., Dai J; Human Phenome Institute, Fudan University, Shanghai, 201203, China., Gan Q; Clinical Diagnostics Division, Thermo Fisher Scientific, 46500 Kato Rd., Fremont, CA, 94538, USA., Gao Y; State Key Laboratory of Genetic Engineering, School of Life Sciences and Human Phenome Institute, Fudan University, Shanghai, 200438, China., Guo M; College of Chemistry, Sichuan University, Chengdu, 610064, Sichuan, China., Hariani G; Q squared Solutions Genomics, 2400 Ellis Road, Durham, NC, 27703, USA., He Y; College of Chemistry, Sichuan University, Chengdu, 610064, Sichuan, China., Hou W; State Key Laboratory of Genetic Engineering, School of Life Sciences and Human Phenome Institute, Fudan University, Shanghai, 200438, China., Jiang H; State Key Laboratory of Genetic Engineering, School of Life Sciences and Human Phenome Institute, Fudan University, Shanghai, 200438, China., Kushwaha G; Guardant Health, Inc., 505 Penobscot Drive, Redwood City, CA, 94063, USA., Li JL; Integrative Bioinformatics Support Group, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC, 27709, USA., Li J; Integrative Bioinformatics Support Group, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC, 27709, USA., Li Y; College of Life Sciences, Shanghai Normal University, Shanghai, 200234, China., Liu LC; Clinical Diagnostics Division, Thermo Fisher Scientific, 46500 Kato Rd., Fremont, CA, 94538, USA., Liu R; State Key Laboratory of Genetic Engineering, School of Life Sciences and Human Phenome Institute, Fudan University, Shanghai, 200438, China., Liu S; Center for Bioinformatics and Computational Biology, and the Institute of Biomedical Sciences, School of Life Sciences, East China Normal University, Shanghai, 200241, China., Meriaux E; CMINDS Research Center, University of Massachusetts, Lowell, MA, 01854, USA., Mo M; Department of Epidemiology, School of Public Health, Fudan University, Shanghai, 200032, China., Moore M; ResearchDx, Irvine, CA, 92618, USA., Moss TJ; Eurofins Viracor, LLC, 18000 W 99th St., Lenexa, KS, 66219, USA., Niu Q; State Key Laboratory of Genetic Engineering, School of Life Sciences and Human Phenome Institute, Fudan University, Shanghai, 200438, China., Patel A; Eurofins Viracor Biopharma Services, Inc., 18000 W 99th St., Lenexa, KS, 66219, USA., Ren L; State Key Laboratory of Genetic Engineering, School of Life Sciences and Human Phenome Institute, Fudan University, Shanghai, 200438, China., Saremi NF; Agilent Technologies, Inc., 11011 N Torrey Pines Rd., La Jolla, CA, 92037, USA., Shang E; State Key Laboratory of Genetic Engineering, School of Life Sciences and Human Phenome Institute, Fudan University, Shanghai, 200438, China., Shang J; State Key Laboratory of Genetic Engineering, School of Life Sciences and Human Phenome Institute, Fudan University, Shanghai, 200438, China., Song P; Cancer Genomics Laboratory, Department of Genomic Medicine, MD Anderson Cancer Center, Houston, TX, 77030, USA., Sun S; ResearchDx, Irvine, CA, 92618, USA., Urban BJ; Eurofins Viracor Biopharma Services, Inc., 18000 W 99th St., Lenexa, KS, 66219, USA., Wang D; Human Phenome Institute, Fudan University, Shanghai, 201203, China., Wang S; State Key Laboratory of Genetic Engineering and Collaborative Innovation Center for Genetics and Development, School of Life Sciences, Fudan University, Shanghai, 200438, China., Wen Z; College of Chemistry, Sichuan University, Chengdu, 610064, Sichuan, China., Xiong X; College of Life Sciences, Shanghai Normal University, Shanghai, 200234, China., Yang J; State Key Laboratory of Genetic Engineering, School of Life Sciences and Human Phenome Institute, Fudan University, Shanghai, 200438, China., Yin L; PathGroup, Nashville, TN, 37217, USA., Zhang C; State Key Laboratory of Genetic Engineering, School of Life Sciences and Human Phenome Institute, Fudan University, Shanghai, 200438, China., Zhang R; State Key Laboratory of Genetic Engineering, School of Life Sciences and Human Phenome Institute, Fudan University, Shanghai, 200438, China., Bhandari A; ResearchDx, Irvine, CA, 92618, USA., Cai W; iGeneTech Bioscience Co., Ltd., 8 Shengmingyuan Rd., Changping, Beijing, China., Eterovic AK; Eurofins Viracor Biopharma Services, Inc., 18000 W 99th St., Lenexa, KS, 66219, USA., Megherbi DB; CMINDS Research Center, University of Massachusetts, Lowell, MA, 01854, USA., Shi T; Center for Bioinformatics and Computational Biology, and the Institute of Biomedical Sciences, School of Life Sciences, East China Normal University, Shanghai, 200241, China., Suo C; Department of Epidemiology, School of Public Health, Fudan University, Shanghai, 200032, China., Yu Y; State Key Laboratory of Genetic Engineering, School of Life Sciences and Human Phenome Institute, Fudan University, Shanghai, 200438, China., Zheng Y; State Key Laboratory of Genetic Engineering, School of Life Sciences and Human Phenome Institute, Fudan University, Shanghai, 200438, China., Novoradovskaya N; Agilent Technologies, Inc., 11011 N Torrey Pines Rd., La Jolla, CA, 92037, USA., Sears RL; Velsera, 6 Cityplace Dr Suite 550, Creve Coeur, MO, 63141, USA., Shi L; State Key Laboratory of Genetic Engineering, School of Life Sciences and Human Phenome Institute, Fudan University, Shanghai, 200438, China., Jones W; Q squared Solutions Genomics, 2400 Ellis Road, Durham, NC, 27703, USA., Tong W; Division of Bioinformatics and Biostatistics, National Center for Toxicological Research, U.S. Food and Drug Administration, Jefferson, AR, 72079, USA., Xu J; Division of Bioinformatics and Biostatistics, National Center for Toxicological Research, U.S. Food and Drug Administration, Jefferson, AR, 72079, USA. Joshua.Xu@fda.hhs.gov.

المصدر: Scientific reports [Sci Rep] 2024 Mar 25; Vol. 14 (1), pp. 7028. Date of Electronic Publication: 2024 Mar 25.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

مواضيع طبية MeSH: Benchmarking* , High-Throughput Nucleotide Sequencing*, Humans ; Computational Biology ; Quality Control ; INDEL Mutation ; Polymorphism, Single Nucleotide

المؤلفون: Zhang B; Department of Genetics Center for Genome Sciences and Systems Biology, Washington University School of Medicine, St Louis, MO 63108, USA; Department of Developmental Biology, Center of Regenerative Medicine, Washington University School of Medicine, St Louis, MO 63108, USA., Kim MY; Ely and Edythe Broad Center of Regeneration Medicine and Stem Cell Research, University of California, San Francisco, San Francisco, CA 94115, USA; Center for Reproductive Sciences, University of California, San Francisco, San Francisco, CA 94115, USA; Brain Tumor Research Center, Department of Neurosurgery, Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, San Francisco, CA 94115, USA., Elliot G; Department of Genetics Center for Genome Sciences and Systems Biology, Washington University School of Medicine, St Louis, MO 63108, USA., Zhou Y; Ely and Edythe Broad Center of Regeneration Medicine and Stem Cell Research, University of California, San Francisco, San Francisco, CA 94115, USA; Center for Reproductive Sciences, University of California, San Francisco, San Francisco, CA 94115, USA; Department of Obstetrics, Gynecology and Reproductive Sciences, University of California, San Francisco, San Francisco, CA 94115, USA; Division of Maternal-Fetal Medicine, University of California, San Francisco, San Francisco, CA 94115, USA., Zhao G; Center for Reproductive Sciences, University of California, San Francisco, San Francisco, CA 94115, USA., Li D; Department of Genetics Center for Genome Sciences and Systems Biology, Washington University School of Medicine, St Louis, MO 63108, USA., Lowdon RF; Department of Genetics Center for Genome Sciences and Systems Biology, Washington University School of Medicine, St Louis, MO 63108, USA., Gormley M; Ely and Edythe Broad Center of Regeneration Medicine and Stem Cell Research, University of California, San Francisco, San Francisco, CA 94115, USA; Center for Reproductive Sciences, University of California, San Francisco, San Francisco, CA 94115, USA; Department of Obstetrics, Gynecology and Reproductive Sciences, University of California, San Francisco, San Francisco, CA 94115, USA; Division of Maternal-Fetal Medicine, University of California, San Francisco, San Francisco, CA 94115, USA., Kapidzic M; Ely and Edythe Broad Center of Regeneration Medicine and Stem Cell Research, University of California, San Francisco, San Francisco, CA 94115, USA; Center for Reproductive Sciences, University of California, San Francisco, San Francisco, CA 94115, USA; Department of Obstetrics, Gynecology and Reproductive Sciences, University of California, San Francisco, San Francisco, CA 94115, USA; Division of Maternal-Fetal Medicine, University of California, San Francisco, San Francisco, CA 94115, USA., Robinson JF; Ely and Edythe Broad Center of Regeneration Medicine and Stem Cell Research, University of California, San Francisco, San Francisco, CA 94115, USA; Center for Reproductive Sciences, University of California, San Francisco, San Francisco, CA 94115, USA; Department of Obstetrics, Gynecology and Reproductive Sciences, University of California, San Francisco, San Francisco, CA 94115, USA; Division of Maternal-Fetal Medicine, University of California, San Francisco, San Francisco, CA 94115, USA., McMaster MT; Department of Cell and Tissue Biology, University of California, San Francisco, San Francisco, CA 94122, USA., Hong C; Brain Tumor Research Center, Department of Neurosurgery, Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, San Francisco, CA 94115, USA., Mazor T; Brain Tumor Research Center, Department of Neurosurgery, Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, San Francisco, CA 94115, USA., Hamilton E; Brain Tumor Research Center, Department of Neurosurgery, Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, San Francisco, CA 94115, USA., Sears RL; Department of Genetics Center for Genome Sciences and Systems Biology, Washington University School of Medicine, St Louis, MO 63108, USA., Pehrsson EC; Department of Genetics Center for Genome Sciences and Systems Biology, Washington University School of Medicine, St Louis, MO 63108, USA., Marra MA; Centre for High-Throughput Biology, Department of Microbiology & Immunology, University of British Columbia, 2125 East Mall, Vancouver, BC V6T 1Z4, Canada; Canada's Michael Smith Genome Sciences Center, BC Cancer Agency, 675 West 10th Aven, Vancouver, BC V5Z 1L3, Canada., Jones SJM; Centre for High-Throughput Biology, Department of Microbiology & Immunology, University of British Columbia, 2125 East Mall, Vancouver, BC V6T 1Z4, Canada; Canada's Michael Smith Genome Sciences Center, BC Cancer Agency, 675 West 10th Aven, Vancouver, BC V5Z 1L3, Canada., Bilenky M; Centre for High-Throughput Biology, Department of Microbiology & Immunology, University of British Columbia, 2125 East Mall, Vancouver, BC V6T 1Z4, Canada; Canada's Michael Smith Genome Sciences Center, BC Cancer Agency, 675 West 10th Aven, Vancouver, BC V5Z 1L3, Canada., Hirst M; Centre for High-Throughput Biology, Department of Microbiology & Immunology, University of British Columbia, 2125 East Mall, Vancouver, BC V6T 1Z4, Canada; Canada's Michael Smith Genome Sciences Center, BC Cancer Agency, 675 West 10th Aven, Vancouver, BC V5Z 1L3, Canada., Wang T; Department of Genetics Center for Genome Sciences and Systems Biology, Washington University School of Medicine, St Louis, MO 63108, USA. Electronic address: twang@wustl.edu., Costello JF; Brain Tumor Research Center, Department of Neurosurgery, Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, San Francisco, CA 94115, USA. Electronic address: joseph.costello@ucsf.edu., Fisher SJ; Ely and Edythe Broad Center of Regeneration Medicine and Stem Cell Research, University of California, San Francisco, San Francisco, CA 94115, USA; Center for Reproductive Sciences, University of California, San Francisco, San Francisco, CA 94115, USA; Department of Obstetrics, Gynecology and Reproductive Sciences, University of California, San Francisco, San Francisco, CA 94115, USA; Division of Maternal-Fetal Medicine, University of California, San Francisco, San Francisco, CA 94115, USA; Department of Anatomy, University of California, San Francisco, San Francisco, CA 94122, USA. Electronic address: susan.fisher@ucsf.edu.

المصدر: Developmental cell [Dev Cell] 2021 May 03; Vol. 56 (9), pp. 1238-1252.e5. Date of Electronic Publication: 2021 Apr 22.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 101120028 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-1551 (Electronic) Linking ISSN: 15345807 NLM ISO Abbreviation: Dev Cell Subsets: MEDLINE

مواضيع طبية MeSH: Epigenome*, Placenta Diseases/*genetics , Placenta Diseases/*pathology , Trophoblasts/*metabolism , Trophoblasts/*pathology, Acetylation ; DNA Methylation/genetics ; Enhancer Elements, Genetic/genetics ; Female ; Gene Expression Regulation, Developmental ; Gestational Age ; Histones/metabolism ; Humans ; Lysine/metabolism ; Pre-Eclampsia/genetics ; Pregnancy ; Protein Processing, Post-Translational

المؤلفون: Li D; Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA.; The Edison Family Center for Genome Sciences and Systems Biology, Washington University School of Medicine, St. Louis, MO, USA., Hsu S; Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA.; The Edison Family Center for Genome Sciences and Systems Biology, Washington University School of Medicine, St. Louis, MO, USA., Purushotham D; Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA.; The Edison Family Center for Genome Sciences and Systems Biology, Washington University School of Medicine, St. Louis, MO, USA., Sears RL; Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA.; The Edison Family Center for Genome Sciences and Systems Biology, Washington University School of Medicine, St. Louis, MO, USA., Wang T; Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA.; The Edison Family Center for Genome Sciences and Systems Biology, Washington University School of Medicine, St. Louis, MO, USA.

المصدر: Nucleic acids research [Nucleic Acids Res] 2019 Jul 02; Vol. 47 (W1), pp. W158-W165.

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

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print Cited Medium: Internet ISSN: 1362-4962 (Electronic) Linking ISSN: 03051048 NLM ISO Abbreviation: Nucleic Acids Res Subsets: MEDLINE

مواضيع طبية MeSH: Databases, Genetic* , Software* , Web Browser*, Epigenome/*genetics, Datasets as Topic ; Epigenomics ; Genome, Human ; Humans ; Internet ; User-Computer Interface

المؤلفون: Ramos EM; Department of Psychiatry, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA., Carecchio M; Molecular Neurogenetics Unit, Movement Disorders Section, IRCCS Foundation Carlo Besta Neurological Institute, Via L. Temolo n. 4, Milan, 20116, Italy.; Department of Pediatric Neurology, IRCCS Foundation Carlo Besta Neurological Institute, Via Celoria 11, Milan, 20131, Italy.; PhD Programme in Translational and Molecular Medicine, Milan Bicocca University, Monza, Italy., Lemos R; Keizo Asami Laboratory, Universidade Federal de Pernambuco, Recife, Brazil., Ferreira J; Keizo Asami Laboratory, Universidade Federal de Pernambuco, Recife, Brazil., Legati A; Department of Psychiatry, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA., Sears RL; Department of Psychiatry, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA., Hsu SC; Department of Psychiatry, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA., Panteghini C; Molecular Neurogenetics Unit, Movement Disorders Section, IRCCS Foundation Carlo Besta Neurological Institute, Via L. Temolo n. 4, Milan, 20116, Italy., Magistrelli L; Department of Neurology, University of Eastern Piedmont, C.so Mazzini 18, Novara, 28100, Italy., Salsano E; Department of Clinical Neurosciences, IRCCS Foundation Carlo Besta Neurological Institute, Via Celoria 11, Milan, 20131, Italy., Esposito S; Department of Pediatric Neurology, IRCCS Foundation Carlo Besta Neurological Institute, Via Celoria 11, Milan, 20131, Italy., Taroni F; IRCCS Foundation Carlo Besta Neurological Institute, Via Amadeo 42, Milan, 20133, Italy., Richard AC; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and CNR-MAJ, F 76000, Normandy Center for Genomic and Personalized Medicine, Rouen, France., Tranchant C; Service de Neurologie, Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Strasbourg, Illkirch, France., Anheim M; Service de Neurologie, Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Strasbourg, Illkirch, France., Ayrignac X; Department of Neurology, Montpellier University Hospital, Montpellier, France., Goizet C; CHU Bordeaux, Service de Génétique Médicale, 33000, Bordeaux, France.; INSERM U1211, Univ Bordeaux, Laboratoire Maladies Rares, Génétique et Métabolisme, 33000, Bordeaux, France., Vidailhet M; Département de neurologie, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, UPMC Univ Paris 06, Inserm U1127, CNRS UMR 7225, ICM, F-75013, Sorbonne Universites, Paris, France., Maltete D; Normandie Univ, UNIROUEN, Inserm U1073, Rouen University Hospital, Department of Neurology, F 76000, Rouen, France., Wallon D; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Neurology and CNR-MAJ, F 76000, Normandy Center for Genomic and Personalized Medicine, Rouen, France., Frebourg T; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and CNR-MAJ, F 76000, Normandy Center for Genomic and Personalized Medicine, Rouen, France., Pimentel L; Keizo Asami Laboratory, Universidade Federal de Pernambuco, Recife, Brazil., Geschwind DH; Department of Psychiatry, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA., Vanakker O; Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B-9000, Ghent, Belgium., Galasko D; Veterans Affairs Medical Center, San Diego and University of California, San Diego, USA., Fogel BL; Departments of Neurology and Human Genetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA., Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Canada., Ross A; Department of Clinical Genetics, Ashgrove House, Foresterhill, Aberdeen, UK., Dobyns WB; Departments of Pediatrics and Neurology, University of Washington; and Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Alcantara D; Genome Damage & Stability Centre, University of Sussex, Brighton, UK., O'Driscoll M; Genome Damage & Stability Centre, University of Sussex, Brighton, UK., Hannequin D; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Neurology, Department of Genetics and CNR-MAJ, F 76000, Normandy Center for Genomic and Personalized Medicine, Rouen, France., Campion D; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and CNR-MAJ, F 76000, Normandy Center for Genomic and Personalized Medicine, Rouen, France.; Department of Research, Rouvray Psychiatric Hospital, Sotteville-lès-Rouen, Rouen, France., Oliveira JR; Keizo Asami Laboratory, Universidade Federal de Pernambuco, Recife, Brazil., Garavaglia B; Molecular Neurogenetics Unit, Movement Disorders Section, IRCCS Foundation Carlo Besta Neurological Institute, Via L. Temolo n. 4, Milan, 20116, Italy., Coppola G; Department of Psychiatry, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA. gcoppola@ucla.edu., Nicolas G; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and CNR-MAJ, F 76000, Normandy Center for Genomic and Personalized Medicine, Rouen, France. gaelnicolas@hotmail.com.

مؤلفون مشاركون: French PFBC study group

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2018 Oct; Vol. 26 (10), pp. 1462-1477. Date of Electronic Publication: 2018 Jun 28.

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

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Brain Diseases/*genetics , Calcinosis/*genetics , Cognitive Dysfunction/*genetics , Genetic Variation/*genetics, Adolescent ; Adult ; Aged ; Aged, 80 and over ; Brain Diseases/physiopathology ; Calcinosis/physiopathology ; Child ; Cognitive Dysfunction/physiopathology ; Female ; Heterozygote ; Humans ; Male ; Middle Aged ; Mutation/genetics ; Pedigree ; Phenotype ; Proto-Oncogene Proteins c-sis/genetics ; Receptor, Platelet-Derived Growth Factor beta/genetics ; Receptors, G-Protein-Coupled/drug effects ; Receptors, Virus/drug effects ; Sodium-Phosphate Cotransporter Proteins, Type III/genetics ; Xenotropic and Polytropic Retrovirus Receptor ; Young Adult

المؤلفون: Zhou J; Department of Genetics, Center for Genome Sciences and Systems Biology, Washington University School of Medicine, St. Louis, MO, USA.; Division of Biostatistics, Washington University School of Medicine, St. Louis, MO, USA., Sears RL; Department of Genetics, Center for Genome Sciences and Systems Biology, Washington University School of Medicine, St. Louis, MO, USA., Xing X; Department of Genetics, Center for Genome Sciences and Systems Biology, Washington University School of Medicine, St. Louis, MO, USA., Zhang B; Department of Genetics, Center for Genome Sciences and Systems Biology, Washington University School of Medicine, St. Louis, MO, USA., Li D; Department of Genetics, Center for Genome Sciences and Systems Biology, Washington University School of Medicine, St. Louis, MO, USA., Rockweiler NB; Department of Genetics, Center for Genome Sciences and Systems Biology, Washington University School of Medicine, St. Louis, MO, USA., Jang HS; Department of Genetics, Center for Genome Sciences and Systems Biology, Washington University School of Medicine, St. Louis, MO, USA., Choudhary MNK; Department of Genetics, Center for Genome Sciences and Systems Biology, Washington University School of Medicine, St. Louis, MO, USA., Lee HJ; Department of Genetics, Center for Genome Sciences and Systems Biology, Washington University School of Medicine, St. Louis, MO, USA., Lowdon RF; Department of Genetics, Center for Genome Sciences and Systems Biology, Washington University School of Medicine, St. Louis, MO, USA., Arand J; Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, USA., Tabers B; Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, USA., Gu CC; Division of Biostatistics, Washington University School of Medicine, St. Louis, MO, USA., Cicero TJ; Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, USA., Wang T; Department of Genetics, Center for Genome Sciences and Systems Biology, Washington University School of Medicine, St. Louis, MO, USA. twang@genetics.wustl.edu.

المصدر: BMC genomics [BMC Genomics] 2017 Sep 12; Vol. 18 (1), pp. 724. Date of Electronic Publication: 2017 Sep 12.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100965258 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2164 (Electronic) Linking ISSN: 14712164 NLM ISO Abbreviation: BMC Genomics Subsets: MEDLINE

مواضيع طبية MeSH: Conserved Sequence*, DNA Methylation/*genetics, Animals ; Binding Sites ; Epigenomics ; Evolution, Molecular ; Humans ; Mice ; Organ Specificity ; Rats ; Transcription Factors/metabolism