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: Cordovado A; UMR 1253, iBrain, University of Tours, INSERM, Tours 37032, France., Schaettin M; Department of Molecular Life Sciences, Neuroscience Center Zurich, University of Zurich, Zurich 8057, Switzerland., Jeanne M; UMR 1253, iBrain, University of Tours, INSERM, Tours 37032, France.; Genetics Department, University Hospital of Tours, Tours 37044, France., Panasenkava V; UMR 1253, iBrain, University of Tours, INSERM, Tours 37032, France., Denommé-Pichon AS; Functional Unit in Innovative Genomic Diagnosis of Rare Diseases, FHU-TRANSLAD, Dijon-Bourgogne University Hospital, Dijon 21079, France.; UMR1231 GAD, INSERM - Bourgogne-Franche Comté University, Dijon 21000, France., Keren B; Genetics Department, Pitié-Salpêtrière Hospital, AP-HP. Sorbonne University, Paris 75651, France., Mignot C; Genetics Department, Pitié-Salpêtrière Hospital, AP-HP. Sorbonne University, Paris 75651, France., Doco-Fenzy M; University Hospital Reims, AMH2, Genetics Division, SFR CAP santé EA3801, Reims 51100, France., Rodan L; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.; Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA., Ramsey K; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ 85012, USA., Narayanan V; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ 85012, USA., Jones JR; Molecular Diagnostic Laboratory, Greenwood Genetic Center, Greenwood, SC 29646, USA., Prijoles EJ; Greenwood Genetic Center, Greenwood, SC 29646, USA., Mitchell WG; Neurology Division, Keck School of Medicine, University of Southern California, Children's Hospital Los Angeles, CA 90027, USA., Ozmore JR; Dartmouth Hitchcock Medical Center, Lebanon, NH 03766, USA., Juliette K; Neurology Department, Gillette Children's Specialty Healthcare, St Paul, MN 55101, USA., Torti E; GeneDx, Gaithersburg, MD 20877, USA., Normand EA; GeneDx, Gaithersburg, MD 20877, USA., Granger L; Genetics Division, Department of Pediatric Development and Rehabilitation, Randall Children's Hospital, Portland, OR 97227, USA., Petersen AK; Genetics Division, Department of Pediatric Development and Rehabilitation, Randall Children's Hospital, Portland, OR 97227, USA., Au MG; Department of Genetics and Metabolism, University of Kentucky, Lexington, KY 40536, USA., Matheny JP; Department of Genetics and Metabolism, University of Kentucky, Lexington, KY 40536, USA., Phornphutkul C; Division of Human Genetics, Department of Pediatrics, Warren Alpert Medical School of Brown University, Hasbro Children's Hospital, Providence, RI 02903, USA., Chambers MK; Division of Genetics, Rhode Island Hospital, Hasbro Children's Hospital, Providence, RI 02903, USA., Fernández-Ramos JA; Pediatric Neurology Unit, Department of Pediatrics, University Hospital Reina Sofía, IMIBIC and CIBERER, Córdoba 14004, Spain., López-Laso E; Pediatric Neurology Unit, Department of Pediatrics, University Hospital Reina Sofía, IMIBIC and CIBERER, Córdoba 14004, Spain., Kruer MC; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA., Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA., Zollino M; Università Cattolica Sacro Cuore, Dipartimento Scienze della Vita e Sanità Pubblica, Sezione di Medicina Genomica, Roma 00168, Italy.; Fondazione Policlinico A. Gemelli IRCCS, U. O. C. Genetica Medica, Roma 00168, Italy., Morleo M; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples 80078, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples 80138, Italy., Marangi G; Università Cattolica Sacro Cuore, Dipartimento Scienze della Vita e Sanità Pubblica, Sezione di Medicina Genomica, Roma 00168, Italy.; Fondazione Policlinico A. Gemelli IRCCS, U. O. C. Genetica Medica, Roma 00168, Italy., Mei D; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, Member of ERN Epicare, University of Florence, Florence 50139, Italy., Pisano T; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, Member of ERN Epicare, University of Florence, Florence 50139, Italy., Guerrini R; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, Member of ERN Epicare, University of Florence, Florence 50139, Italy., Louie RJ; Molecular Diagnostic Laboratory, Greenwood Genetic Center, Greenwood, SC 29646, USA., Childers A; Molecular Diagnostic Laboratory, Greenwood Genetic Center, Greenwood, SC 29646, USA., Everman DB; Molecular Diagnostic Laboratory, Greenwood Genetic Center, Greenwood, SC 29646, USA., Isidor B; Medical Genetics Service, Clinical Genetics Unit, University Hospital of Nantes, Hôtel Dieu, Nantes 44093, France., Audebert-Bellanger S; Clinical Genetics Service, University Hospital of Brest, Morvan Hospital, Brest 29609, France., Odent S; Clinical Genetics Service, University Hospital, Genetic and Development Institute of Rennes IGDR, UMR 6290 University of Rennes, ITHACA ERN, Rennes 35203, France., Bonneau D; Department of Medical Genetics, University Hospital of Angers and Mitovasc INSERM 1083, CNRS 6015, Angers 49000, France., Gilbert-Dussardier B; Medical Genetics, University Hospital, La Milétrie, BP 577, Poitiers 86021, France., Redon R; INSERM, CNRS, UNIV Nantes, Thorax Institute, Nantes 44007, France., Bézieau S; INSERM, CNRS, UNIV Nantes, Thorax Institute, Nantes 44007, France.; Medical Genetics Service, University Hospital of Nantes, Nantes 44093, France., Laumonnier F; UMR 1253, iBrain, University of Tours, INSERM, Tours 37032, France., Stoeckli ET; Department of Molecular Life Sciences, Neuroscience Center Zurich, University of Zurich, Zurich 8057, Switzerland., Toutain A; UMR 1253, iBrain, University of Tours, INSERM, Tours 37032, France.; Genetics Department, University Hospital of Tours, Tours 37044, France., Vuillaume ML; UMR 1253, iBrain, University of Tours, INSERM, Tours 37032, France.; Genetics Department, University Hospital of Tours, Tours 37044, France.

المصدر: Human molecular genetics [Hum Mol Genet] 2022 Sep 29; Vol. 31 (19), pp. 3325-3340.

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

بيانات الدورية: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

مواضيع طبية MeSH: Epilepsy*/genetics , Intellectual Disability*/genetics , Semaphorins*/genetics, Animals ; Axon Guidance ; Chick Embryo ; Dendritic Spines ; HEK293 Cells ; Humans

المؤلفون: Robbins NM; Department of Neurology, Geisel Dartmouth School of Medicine, Hanover, USA., Ozmore JR; Department of Medical Genetics, Dartmouth-Hitchcock Medical Center, Lebanon, USA., Winder TL; Invitae Corporation, San Francisco, USA., Gonzalez-Alegre P; Department of Neurology, The University of Pennsylvania, Philadelphia, USA., Bardakjian TM; Department of Neurology, The University of Pennsylvania, Philadelphia, USA.

المصدر: Case reports in neurological medicine [Case Rep Neurol Med] 2020 Aug 29; Vol. 2020, pp. 7219514. Date of Electronic Publication: 2020 Aug 29 (Print Publication: 2020).

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Hindawi Pub. Corp Country of Publication: United States NLM ID: 101576451 Publication Model: eCollection Cited Medium: Print ISSN: 2090-6668 (Print) Linking ISSN: 20906676 NLM ISO Abbreviation: Case Rep Neurol Med Subsets: PubMed not MEDLINE

المؤلفون: Curry CJ; Genetic Medicine Central California, Fresno, CA 93701, USA. ccurry@fresno.ucsf.edu, Rosenfeld JA, Grant E, Gripp KW, Anderson C, Aylsworth AS, Saad TB, Chizhikov VV, Dybose G, Fagerberg C, Falco M, Fels C, Fichera M, Graakjaer J, Greco D, Hair J, Hopkins E, Huggins M, Ladda R, Li C, Moeschler J, Nowaczyk MJ, Ozmore JR, Reitano S, Romano C, Roos L, Schnur RE, Sell S, Suwannarat P, Svaneby D, Szybowska M, Tarnopolsky M, Tervo R, Tsai AC, Tucker M, Vallee S, Wheeler FC, Zand DJ, Barkovich AJ, Aradhya S, Shaffer LG, Dobyns WB

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2013 Aug; Vol. 161A (8), pp. 1833-52. Date of Electronic Publication: 2013 Jun 27.

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

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

مواضيع طبية MeSH: Gene Duplication*, 1-Alkyl-2-acetylglycerophosphocholine Esterase/*genetics , 14-3-3 Proteins/*genetics , Brain/*abnormalities , Child Behavior Disorders/*pathology , Child Development Disorders, Pervasive/*pathology , Chromosomes, Human, Pair 17/*genetics , Microtubule-Associated Proteins/*genetics, Adolescent ; Adult ; Brain/pathology ; Child ; Child Behavior Disorders/genetics ; Child Development Disorders, Pervasive/genetics ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Phenotype

المؤلفون: Girirajan S; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA., Rosenfeld JA, Cooper GM, Antonacci F, Siswara P, Itsara A, Vives L, Walsh T, McCarthy SE, Baker C, Mefford HC, Kidd JM, Browning SR, Browning BL, Dickel DE, Levy DL, Ballif BC, Platky K, Farber DM, Gowans GC, Wetherbee JJ, Asamoah A, Weaver DD, Mark PR, Dickerson J, Garg BP, Ellingwood SA, Smith R, Banks VC, Smith W, McDonald MT, Hoo JJ, French BN, Hudson C, Johnson JP, Ozmore JR, Moeschler JB, Surti U, Escobar LF, El-Khechen D, Gorski JL, Kussmann J, Salbert B, Lacassie Y, Biser A, McDonald-McGinn DM, Zackai EH, Deardorff MA, Shaikh TH, Haan E, Friend KL, Fichera M, Romano C, Gécz J, DeLisi LE, Sebat J, King MC, Shaffer LG, Eichler EE

المصدر: Nature genetics [Nat Genet] 2010 Mar; Vol. 42 (3), pp. 203-9. Date of Electronic Publication: 2010 Feb 14.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; 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: Chromosome Deletion* , Chromosomes, Human, Pair 16*/genetics , Models, Genetic*, Developmental Disabilities/*genetics, Adult ; Case-Control Studies ; Child ; Child, Preschool ; Comparative Genomic Hybridization/methods ; Family ; Gene Frequency ; Humans ; Infant ; Oligonucleotide Array Sequence Analysis ; Pedigree ; Phenotype ; Polymorphism, Single Nucleotide ; Recurrence ; Severity of Illness Index

المؤلفون: Hsu LM; Program in Biochemistry, Mount Holyoke College, South Hadley, Massachusetts 01075, USA. lhsu@mtholyoke.edu, Cobb IM, Ozmore JR, Khoo M, Nahm G, Xia L, Bao Y, Ahn C

المصدر: Biochemistry [Biochemistry] 2006 Jul 25; Vol. 45 (29), pp. 8841-54.

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

بيانات الدورية: Publisher: American Chemical Society Country of Publication: United States NLM ID: 0370623 Publication Model: Print Cited Medium: Print ISSN: 0006-2960 (Print) Linking ISSN: 00062960 NLM ISO Abbreviation: Biochemistry Subsets: MEDLINE

مواضيع طبية MeSH: DNA-Directed RNA Polymerases/*genetics , DNA-Directed RNA Polymerases/*metabolism , Promoter Regions, Genetic/*physiology , Transcription, Genetic/*physiology, Base Sequence ; Escherichia coli/enzymology ; Molecular Sequence Data ; Promoter Regions, Genetic/genetics ; T-Phages/genetics ; Transcription Initiation Site/physiology