المؤلفون: Van Dijck, A, Vulto-van Silfhout, AT, Cappuyns, E, van der Werf, IM, Mancini, GM, Tzschach, A, Bernier, R, Gozes, I, Eichler, EE, Romano, C, Lindstrand, A, Nordgren, A, Kvarnung, M, Kleefstra, T, de Vries, BBA, Kury, S, Rosenfeld, JA, Meuwissen, ME, Vandeweyer, G, Kooy, RF, Bakshi, M, Wilson, M, Berman, Y, Dickson, R, Fransen, E, Helsmoortel, C, Van den Ende, J, Van der Aa, N, van de Wijdeven, MJ, Rosenblum, J, Monteiro, F, Kok, F, Quercia, N, Bowdin, S, Dyment, D, Chitayat, D, Alkhunaizi, E, Boonen, SE, Keren, B, Jacquette, A, Faivre, L, Bezieau, S, Isidor, B, Riess, A, Moog, U, Lynch, SA, McVeigh, T, Elpeleg, O, Smeland, MF, Fannemel, M, van Haeringen, A, Maas, SM, Veenstra-Knol, HE, Schouten, M, Willemsen, MH, Marcelis, CL, Ockeloen, C, van der Burgt, I, Feenstra, I, van der Smagt, J, Jezela-Stanek, A, Krajewska-Walasek, M, Gonzalez-Lamuno, D, Anderlid, BM, Malmgren, H, Nordenskjold, M, Clement, E, Hurst, J, Metcalfe, K, Mansour, S, Lachlan, K, Clayton-Smith, J, Hendon, LG, Abdulrahman, OA, Morrow, E, McMillan, C, Gerdts, J, Peeden, J, Vergano, SAS, Valentino, C, Chung, WK, Ozmore, JR, Bedrosian-Sermone, S, Dennis, A, Treat, K, Hughes, SS, Safina, N, Le Pichon, JB, McGuire, M, Infante, E, Madan-Khetarpal, S, Desai, S, Benke, P, Krokosky, A, Cristian, I, Baker, L, Gripp, K, Stessman, HA, Eichenberger, J, Jayakar, P, Pizzino, A, Manning, MA, Slattery, L

المصدر: Biological psychiatry. 85(4):287-297

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:140073087

المؤلفون: Valencia AM; Dana-Farber Cancer Institute and Harvard Medical School, Boston, MA, USA.; Chemical Biology Program, Harvard University, Cambridge, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Psychiatry and Behavioral Sciences, Stanford University, Stanford, CA, USA.; Stanford Brain Organogenesis, Wu Tsai Neurosciences Institute, Stanford University, Stanford, CA, USA., Sankar A; Dana-Farber Cancer Institute and Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA., van der Sluijs PJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., Satterstrom FK; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Massachusetts General Hospital, Boston, MA, USA., Fu J; Massachusetts General Hospital, Boston, MA, USA., Talkowski ME; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Massachusetts General Hospital, Boston, MA, USA., Vergano SAS; Children's Hospital of the King's Daughters, Norfolk, Virginia, USA.; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia, USA., Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., Kadoch C; Dana-Farber Cancer Institute and Harvard Medical School, Boston, MA, USA. Cigall_kadoch@dfci.harvard.edu.; Broad Institute of MIT and Harvard, Cambridge, MA, USA. Cigall_kadoch@dfci.harvard.edu.; Howard Hughes Medical Institute, Chevy Chase, MD, USA. Cigall_kadoch@dfci.harvard.edu.

المصدر: Nature genetics [Nat Genet] 2023 Aug; Vol. 55 (8), pp. 1400-1412. Date of Electronic Publication: 2023 Jul 27.

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

بيانات الدورية: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

مواضيع طبية MeSH: Chromatin Assembly and Disassembly*/genetics , Neurodevelopmental Disorders*/genetics, Animals ; Humans ; Transcription Factors/genetics ; Transcription Factors/metabolism ; Chromatin/genetics ; Nucleosomes ; Mammals/genetics

المؤلفون: Vergano SAS; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA.; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, VA.

المصدر: Pediatrics in review [Pediatr Rev] 2022 Jul 01; Vol. 43 (7), pp. 371-383.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: The Academy Country of Publication: United States NLM ID: 8103046 Publication Model: Print Cited Medium: Internet ISSN: 1526-3347 (Electronic) Linking ISSN: 01919601 NLM ISO Abbreviation: Pediatr Rev Subsets: MEDLINE

مواضيع طبية MeSH: Amino Acid Metabolism, Inborn Errors* , Galactosemias* , Glycogen Storage Disease* , Lysosomal Storage Diseases*/diagnosis , Metabolism, Inborn Errors*/diagnosis , Metabolism, Inborn Errors*/therapy, Child ; Humans ; Infant ; Infant, Newborn

المؤلفون: Vo DA; Department of Pediatrics, Children's Hospital of The King's Daughters, Eastern Virginia Medical School, Norfolk, VA., Vahedi S; Department of Ophthalmology, Eastern Virginia Medical School, Norfolk, VA., Crouch E; Department of Ophthalmology, Eastern Virginia Medical School, Norfolk, VA., Vergano SAS; Division of Genetics and Metabolism, Children's Hospital of The King's Daughters, Eastern Virginia Medical School, Norfolk, VA., Bass WT; Division of Neonatology, Department of Pediatrics, Children's Hospital of The King's Daughters, Eastern Virginia Medical School, Norfolk, VA.

المصدر: NeoReviews [Neoreviews] 2021 Dec 01; Vol. 22 (12), pp. e837-e839.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Academy of Pediatrics Country of Publication: United States NLM ID: 101085360 Publication Model: Print Cited Medium: Internet ISSN: 1526-9906 (Electronic) Linking ISSN: 15269906 NLM ISO Abbreviation: Neoreviews Subsets: MEDLINE

مواضيع طبية MeSH: Cornea*, Humans

المؤلفون: Weiss K; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel. k_weiss@rambam.health.gov.il., Lazar HP; Epigenetics and Stem Cell Biology Laboratory, National Institute of Environmental Health Sciences, Research Triangle Park, NC, USA., Kurolap A; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.; The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel., Martinez AF; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Paperna T; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel., Cohen L; Genetics Institute, Schneider Children's Medical Center, Petah Tikva, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Smeland MF; Department of Medical Genetics, University Hospital of North Norway, Tromsø, Norway., Whalen S; UF de génétique clinique, Centre de Référence Maladies Rares des Anomalies du développement et syndromes malformatifs, APHP, Hôpital Trousseau, Paris, France., Heide S; AP-HP, Département de Génétique, Centre de Référence Maladies Rares 'Anomalies du développement et syndromes malformatifs' Hôpital de la Pitié Salpêtrière, Paris, France., Keren B; AP-HP, Département de Génétique, Centre de Référence Maladies Rares 'Anomalies du développement et syndromes malformatifs' Hôpital de la Pitié Salpêtrière, Paris, France., Terhal P; Department of Genetics, Utrecht University Medical Center, Utrecht, the Netherlands., Irving M; Department of Clinical Genetics, Guy's Hospital, London, UK., Takaku M; Epigenetics and Stem Cell Biology Laboratory, National Institute of Environmental Health Sciences, Research Triangle Park, NC, USA., Roberts JD; Epigenetics and Stem Cell Biology Laboratory, National Institute of Environmental Health Sciences, Research Triangle Park, NC, USA., Petrovich RM; Epigenetics and Stem Cell Biology Laboratory, National Institute of Environmental Health Sciences, Research Triangle Park, NC, USA., Vergano SAS; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA.; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, VA, USA., Kenney A; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA., Hove H; Centre for Rare Diseases, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., DeChene E; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Quinonez SC; Department of Pediatrics, Division of Genetics, Metabolism and Genomic Medicine, University of Michigan, Ann Arbor, MI, USA., Colin E; Department of Biochemistry and Genetics, University Hospital Angers, Angers, France., Ziegler A; Department of Biochemistry and Genetics, University Hospital Angers, Angers, France., Rumple M; Banner Child Neurology, Glendale, AZ, USA., Jain M; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Bone and Osteogenesis Imperfecta Department, Kennedy Krieger Institute, Baltimore, MD, USA., Monteil D; Department of Pediatrics, Naval Medical Center Portsmouth, Portsmouth, VA, USA., Roeder ER; Departments of Pediatrics and Molecular and Human Genetics, Baylor College of Medicine, San Antonio, TX, USA., Nugent K; Departments of Pediatrics and Molecular and Human Genetics, Baylor College of Medicine, San Antonio, TX, USA., van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Gambello M; Department of Human Genetics, School of Medicine, Emory University, Atlanta, GA, USA., Santani A; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Medne L; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Krock B; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Skraban CM; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Zackai EH; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Dubbs HA; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Smol T; Department of Clinical Genetics, Lille University Hospital, CHU Lille, Lille, France.; EA7364 RADEME (Research Team on Rare Developmental and Metabolic Diseases), Lille 2 University, Lille, France., Ghoumid J; Department of Clinical Genetics, Lille University Hospital, CHU Lille, Lille, France.; EA7364 RADEME (Research Team on Rare Developmental and Metabolic Diseases), Lille 2 University, Lille, France., Parker MJ; Sheffield Children's Hospital NHS Foundation Trust, Western Bank, Sheffield, UK., Wright M; Northern Genetics Service, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Institute of Human Genetics, International Centre for Life, Newcastle upon Tyne, UK., Turnpenny P; University of Exeter Medical School, Clinical Genetics Royal Devon & Exeter Hospital, Exeter, UK., Clayton-Smith J; Institute of Evolution, Systems and Genomics, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.; Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, UK., Metcalfe K; Institute of Evolution, Systems and Genomics, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.; Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, UK., Kurumizaka H; Laboratory of Structural Biology, Graduate School of Advanced Science & Engineering, Waseda University, Tokyo, Japan., Gelb BD; Mindich Child Health and Development Institute and Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Feldman HB; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.; The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel., Campeau PM; Department of Pediatrics, University of Montreal and CHU Sainte-Justine, Montreal, QC, Canada., Muenke M; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Wade PA; Epigenetics and Stem Cell Biology Laboratory, National Institute of Environmental Health Sciences, Research Triangle Park, NC, USA., Lachlan K; Wessex Clinical Genetics Service, University Hospital Southampton NHS Trust. Department of Human Genetics and Genomic Medicine, Southampton University, Southampton, UK.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Mar; Vol. 22 (3), pp. 669.

نوع المنشور: Published Erratum

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: PubMed not MEDLINE; MEDLINE

المؤلفون: Wambach JA; Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA; St. Louis Children's Hospital, St. Louis, MO 63110, USA. Electronic address: wambachj@wustl.edu., Wegner DJ; Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA; St. Louis Children's Hospital, St. Louis, MO 63110, USA., Patni N; Department of Pediatrics and Center for Human Nutrition, UT Southwestern Medical Center, Dallas, TX 75390, USA., Kircher M; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Willing MC; Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA; St. Louis Children's Hospital, St. Louis, MO 63110, USA., Baldridge D; Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA; St. Louis Children's Hospital, St. Louis, MO 63110, USA., Xing C; McDermott Center for Human Growth and Development, Department of Bioinformatics and Department of Clinical Sciences, UT Southwestern Medical Center, Dallas, TX 75390, USA., Agarwal AK; Division of Nutrition Metabolic Diseases, Department of Internal Medicine, Center for Human Nutrition, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA., Vergano SAS; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Department of Pediatrics, Eastern Virginia Medical School, Norfolk, VA 23507, USA., Patel C; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD 4029, Australia., Grange DK; Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA; St. Louis Children's Hospital, St. Louis, MO 63110, USA., Kenney A; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Department of Pediatrics, Eastern Virginia Medical School, Norfolk, VA 23507, USA., Najaf T; Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA; St. Louis Children's Hospital, St. Louis, MO 63110, USA; Fetal Care Center, Washington University School of Medicine, St. Louis, MO 63110, USA., Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Bamshad MJ; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Cole FS; Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA; St. Louis Children's Hospital, St. Louis, MO 63110, USA., Garg A; Division of Nutrition Metabolic Diseases, Department of Internal Medicine, Center for Human Nutrition, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA. Electronic address: abhimanyu.garg@utsouthwestern.edu.

المصدر: American journal of human genetics [Am J Hum Genet] 2018 Dec 06; Vol. 103 (6), pp. 968-975. Date of Electronic Publication: 2018 Nov 07.

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: Fetal Growth Retardation/*genetics , Genetic Variation/*genetics , Loss of Heterozygosity/*genetics , Progeria/*genetics , RNA Polymerase III/*genetics, Adolescent ; Adult ; Alleles ; Child, Preschool ; Female ; Genotype ; Humans ; Phenotype ; Young Adult

SCR Disease Name: Progeroid syndrome, neonatal