المؤلفون: Jansen, S, Hoischen, A, Coe, BP, Carvill, GL, Van Esch, H, Bosch, DGM, Andersen, UA, Baker, C, Bauters, M, Bernier, RA, van Bon, BW, Claahsen-van der Grinten, HL, Gecz, J, Gilissen, C, Grillo, L, Hackett, A, Kleefstra, T, Koolen, D, Kvarnung, M, Larsen, MJ, Marcelis, C, McKenzie, F, Monin, ML, Nava, C, Schuurs-Hoeijmakers, JH, Pfundt, R, Steehouwer, M, Stevens, SJC, Stumpel, CT, Vansenne, F, Vinci, M, van de Vorst, M, de Vries, P, Witherspoon, K, Veltman, JA, Brunner, HG, Mefford, HC, Romano, C, Vissers, LELM, Eichler, EE, de Vries, BBA

المصدر: European journal of human genetics : EJHG. 26(1):54-63

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:137517595

المؤلفون: Stessman, HAF, Willemsen, MH, Fenckova, M, Penn, O, Hoischen, A, Xiong, B, Wang, TY, Hoekzema, K, Vives, L, Voge, I, Brunner, HG, van der Burgt, I, Ockeloen, CW, Schuurs-Hoeijmakers, JH, Wassink-Ruiter, JSK, Stumpel, C, Stevens, SJC, Vles, HS, Marcelis, CM, van Bokhoven, H, Cantagrel, V, Colleaux, L, Nicouleau, M, Lyonnet, S, Bernier, RA, Gerdts, J, Coe, BP, Romano, C, Alberti, A, Grillo, L, Scuderi, C, Nordenskjold, M, Kvarnung, M, Guo, H, Xia, K, Piton, A, Gerard, B, Genevieve, D, Delobel, B, Lehalle, D, Perrin, L, Prieur, F, Thevenon, J, Gecz, J, Shaw, M, Pfundt, R, Keren, B, Jacquette, A, Schenck, A, Eichler, EE, Kleefstra, Tz

المصدر: American journal of human genetics. 98(3):541-552

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:133190407

المؤلفون: Verkouteren BJ; Department of Dermatology, Maastricht University Medical Center+, Maastricht, The Netherlands babette.verkouteren@mumc.nl.; GROW School for Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands., Roemen GM; GROW School for Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands.; Department of Pathology, Maastricht University Medical Center+, Maastricht, The Netherlands., Schuurs-Hoeijmakers JH; Clinical Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Abdul Hamid M; Department of Pathology, Maastricht University Medical Center+, Maastricht, The Netherlands., van Geel M; Department of Dermatology, Maastricht University Medical Center+, Maastricht, The Netherlands.; GROW School for Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands.; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands., Speel EM; GROW School for Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands.; Department of Pathology, Maastricht University Medical Center+, Maastricht, The Netherlands., Mosterd K; Department of Dermatology, Maastricht University Medical Center+, Maastricht, The Netherlands.; GROW School for Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands.

المصدر: Journal of clinical pathology [J Clin Pathol] 2023 May; Vol. 76 (5), pp. 345-348. Date of Electronic Publication: 2022 Aug 24.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 0376601 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1472-4146 (Electronic) Linking ISSN: 00219746 NLM ISO Abbreviation: J Clin Pathol Subsets: MEDLINE

مواضيع طبية MeSH: Basal Cell Nevus Syndrome*/genetics , Basal Cell Nevus Syndrome*/pathology , Meningioma* , Carcinoma, Basal Cell* , Skin Neoplasms*/genetics , Skin Neoplasms*/pathology , Meningeal Neoplasms* , Leiomyoma*, Male ; Humans

المؤلفون: Langereis JD; Department of Laboratory Medicine Laboratory of Medical Immunology Radboud Institute for Molecular Life Sciences Radboudumc Nijmegen The Netherlands.; Radboud Center for Infectious Diseases Radboudumc Nijmegen The Netherlands., van der Molen RG; Department of Laboratory Medicine Laboratory of Medical Immunology Radboud Institute for Molecular Life Sciences Radboudumc Nijmegen The Netherlands., de Kat Angelino C; Department of Laboratory Medicine Laboratory of Medical Immunology Radboud Institute for Molecular Life Sciences Radboudumc Nijmegen The Netherlands., Henriet SS; Pediatric Infectious Diseases and Immunology Amalia Children's Hospital Nijmegen The Netherlands.; Expertise Center for Immunodeficiency and Autoinflammation (REIA) Radboudumc Nijmegen The Netherlands., de Jonge MI; Department of Laboratory Medicine Laboratory of Medical Immunology Radboud Institute for Molecular Life Sciences Radboudumc Nijmegen The Netherlands.; Radboud Center for Infectious Diseases Radboudumc Nijmegen The Netherlands., Joosten I; Department of Laboratory Medicine Laboratory of Medical Immunology Radboud Institute for Molecular Life Sciences Radboudumc Nijmegen The Netherlands., Simons A; Department of Human Genetics Radboudumc Nijmegen The Netherlands., Schuurs-Hoeijmakers JH; Department of Human Genetics Radboudumc Nijmegen The Netherlands., van Deuren M; Expertise Center for Immunodeficiency and Autoinflammation (REIA) Radboudumc Nijmegen The Netherlands.; Department of Internal Medicine Division of Infectious Diseases Radboudumc Nijmegen The Netherlands., van Aerde K; Pediatric Infectious Diseases and Immunology Amalia Children's Hospital Nijmegen The Netherlands.; Expertise Center for Immunodeficiency and Autoinflammation (REIA) Radboudumc Nijmegen The Netherlands., van der Flier M; Pediatric Infectious Diseases and Immunology Amalia Children's Hospital Nijmegen The Netherlands.; Expertise Center for Immunodeficiency and Autoinflammation (REIA) Radboudumc Nijmegen The Netherlands.; Present address: Pediatric Infectious Diseases and Immunology Wilhelmina Children's Hospital UMC Utrecht Utrecht The Netherlands.

المصدر: Clinical & translational immunology [Clin Transl Immunology] 2021 Apr 03; Vol. 10 (4), pp. e1256. Date of Electronic Publication: 2021 Apr 03 (Print Publication: 2021).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: John Wiley & Sons Australia, Ltd. on behalf of Australasian Society for Immunology Inc Country of Publication: Australia NLM ID: 101638268 Publication Model: eCollection Cited Medium: Print ISSN: 2050-0068 (Print) Linking ISSN: 20500068 NLM ISO Abbreviation: Clin Transl Immunology Subsets: PubMed not MEDLINE

المؤلفون: Lugtenberg D; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Reijnders MR; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Fenckova M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Bernier R; Department of Psychiatry, University of Washington, Seattle, WA, USA., van Bon BW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Smeets E; Department of Clinical Genetics, University of Maastricht, Maastricht, The Netherlands., Vulto-van Silfhout AT; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Bosch D; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Eichler EE; Department Genome Sciences, University of Washington, Seattle, WA, USA.; Howard Hughes Medical Institute, Seattle, WA, USA., Mefford HC; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, USA., Carvill GL; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, USA., Bongers EM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Schuurs-Hoeijmakers JH; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Ruivenkamp CA; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Santen GW; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., van den Maagdenberg AM; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands., Peeters-Scholte CM; Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands., Kuenen S; VIB, Center for the Biology of Disease, Leuven, Belgium.; KU Leuven, Center for Human Genetics, Leuven Institute for Neuroscience and Disease (LIND), Leuven, Belgium., Verstreken P; VIB, Center for the Biology of Disease, Leuven, Belgium.; KU Leuven, Center for Human Genetics, Leuven Institute for Neuroscience and Disease (LIND), Leuven, Belgium., Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Yntema HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., de Vries PF; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Veltman JA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Clinical Genetics, University of Maastricht, Maastricht, The Netherlands., Hoischen A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., de Vries BB; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Schenck A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Vissers LE; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2016 Aug; Vol. 24 (8), pp. 1145-53. Date of Electronic Publication: 2016 Jan 13.

نوع المنشور: Journal Article

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: Mutation*, Adaptor Proteins, Signal Transducing/*genetics , Carrier Proteins/*genetics , Craniofacial Abnormalities/*genetics , Drosophila Proteins/*genetics , Intellectual Disability/*genetics , Learning Disabilities/*genetics, Adolescent ; Animals ; Carrier Proteins/metabolism ; Child ; Child, Preschool ; Craniofacial Abnormalities/diagnosis ; Drosophila/genetics ; Drosophila/physiology ; Drosophila Proteins/metabolism ; Female ; Habituation, Psychophysiologic ; Humans ; Intellectual Disability/diagnosis ; Learning ; Learning Disabilities/diagnosis ; Male ; Phenotype ; Syndrome ; Young Adult

المؤلفون: van Amen-Hellebrekers CJ; Department of Human Genetics, Donders Centre for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Jansen S; Department of Human Genetics, Donders Centre for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Pfundt R; Department of Human Genetics, Donders Centre for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Schuurs-Hoeijmakers JH; Department of Human Genetics, Donders Centre for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Koolen DA; Department of Human Genetics, Donders Centre for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Marcelis CL; Department of Human Genetics, Donders Centre for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., de Leeuw N; Department of Human Genetics, Donders Centre for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., de Vries BB; Department of Human Genetics, Donders Centre for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands. Electronic address: bert.devries@radboudumc.nl.

المصدر: European journal of medical genetics [Eur J Med Genet] 2016 Aug; Vol. 59 (8), pp. 373-6. Date of Electronic Publication: 2016 Jun 11.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Gene Duplication*, Attention Deficit Disorder with Hyperactivity/*diagnosis , Attention Deficit Disorder with Hyperactivity/*genetics , Autistic Disorder/*genetics , Excitatory Amino Acid Transporter 1/*genetics, Child ; Child, Preschool ; Chromosomes, Human, Pair 5 ; Female ; Genetic Association Studies ; Genome-Wide Association Study ; Humans ; Infant ; Male ; Oligonucleotide Array Sequence Analysis ; Pedigree ; Phenotype

المؤلفون: Peters B; Department of Paediatrics, Radboud University Nijmegen Medical Centre, Radboud umc. Geert Grooteplein Zuid 10, Nijmegen, 6525 GA, The Netherlands. Brmpeters@gmail.com., Schuurs-Hoeijmakers JH; Department of Human Genetics, Radboud University Nijmegen Medical Centre, Radboud umc. Geert Grooteplein Zuid 10, Nijmegen, 6525 GA, The Netherlands., Fuijkschot J; Department of Paediatrics, Radboud University Nijmegen Medical Centre, Radboud umc. Geert Grooteplein Zuid 10, Nijmegen, 6525 GA, The Netherlands., Reimer A; Department Paediatric Cardiology, Radboud University Nijmegen Medical Centre, Radboud umc. Geert Grooteplein Zuid 10, Nijmegen, 6525 GA, The Netherlands., van der Flier M; Department of Paediatrics, Radboud University Nijmegen Medical Centre, Radboud umc. Geert Grooteplein Zuid 10, Nijmegen, 6525 GA, The Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Radboud umc. Geert Grooteplein Zuid 10, Nijmegen, 6525 GA, The Netherlands., Lugtenberg D; Department of Human Genetics, Radboud University Nijmegen Medical Centre, Radboud umc. Geert Grooteplein Zuid 10, Nijmegen, 6525 GA, The Netherlands., Hoppenreijs EP; Department of Paediatrics, Radboud University Nijmegen Medical Centre, Radboud umc. Geert Grooteplein Zuid 10, Nijmegen, 6525 GA, The Netherlands.; Paediatric Rheumatology, Radboud University Nijmegen Medical Centre, Radboud umc. Geert Grooteplein Zuid 10, Nijmegen, 6525 GA, The Netherlands.; Sint Maartenskliniek, Hengstdal 3, Ubbergen, 6574 NA, The Netherlands.

المصدر: Pediatric rheumatology online journal [Pediatr Rheumatol Online J] 2016 May 25; Vol. 14 (1), pp. 32. Date of Electronic Publication: 2016 May 25.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101248897 Publication Model: Electronic Cited Medium: Internet ISSN: 1546-0096 (Electronic) Linking ISSN: 15460096 NLM ISO Abbreviation: Pediatr Rheumatol Online J Subsets: MEDLINE

مواضيع طبية MeSH: Arthropathy, Neurogenic/*complications , Coxa Vara/*complications , Hand Deformities, Congenital/*complications , Protein-Losing Enteropathies/*complications , Synovitis/*complications, Arthropathy, Neurogenic/genetics ; Child ; Consanguinity ; Coxa Vara/genetics ; Female ; Hand Deformities, Congenital/genetics ; Homozygote ; Humans ; Protein-Losing Enteropathies/genetics ; Synovitis/genetics

SCR Disease Name: Jacobs syndrome

المؤلفون: Schuurs-Hoeijmakers JH; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Landsverk ML; Department of Pediatrics, Sanford School of Medicine, University of South Dakota, and Sanford Children's Health Research Center, Sanford Research, Sioux Falls, South Dakota., Foulds N; Wessex Clinical Genetics Services, University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom.; Faculty of Medicine, University of Southampton, Southampton, United Kingdom., Kukolich MK; Clinical Genetics, Cook Children's Hospital, Fort Worth, Texas., Gavrilova RH; Department of Neurology, Mayo Clinic, Rochester, Minnesota.; Medical Genetics, Mayo Clinic, Rochester, Minnesota., Greville-Heygate S; Wessex Clinical Genetics Services, University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom.; Faculty of Medicine, University of Southampton, Southampton, United Kingdom., Hanson-Kahn A; Department of Genetics, Stanford University School of Medicine, Stanford, California.; Department of Pediatrics, Stanford University School of Medicine, Stanford, California., Bernstein JA; Department of Pediatrics, Stanford University School of Medicine, Stanford, California., Glass J; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio., Chitayat D; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada., Burrow TA; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio., Husami A; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio., Collins K; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio., Wusik K; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio., van der Aa N; Department of Medical Genetics, University Hospital Antwerp, Antwerp, Belgium., Kooy F; Department of Medical Genetics, University Hospital Antwerp, Antwerp, Belgium., Brown KT; Southwest Thames Regional Genetics Centre, St George's Healthcare NHS Trust, London, United Kingdom., Gadzicki D; MVZ Endokrinologikum Hannover, Hannover, Germany., Kini U; Department of Clinical Genetics, Oxford University Hospitals NHS Trust, Oxford, United Kingdom., Alvarez S; NIMgenetics, Madrid, Spain., Fernández-Jaén A; School of Medicine, European University of Madrid, Spain.; Neuropediatric Department, 'Quiron' University Hospital, Spain., McGehee F; Consultant, Cook Children's Physician Network., Selby K; Child & family Research Institute, Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada.; Division of Pediatric Neurology, Department of Pediatrics, B.C. Children's & Women's Hospital, Vancouver, British Columbia, Canada., Tarailo-Graovac M; Centre for Molecular Medicine and Therapeutics (TIDE-BC), Department of Pediatrics and Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada., Van Allen M; Child and family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada., van Karnebeek CD; Centre for Molecular Medicine and Therapeutics (TIDE-BC), Department of Pediatrics and Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada., Stavropoulos DJ; Genome Diagnostics, Department of Paediatric Laboratory Medicine, the Hospital for Sick Children, Toronto, Ontario, Canada., Marshall CR; Genome Diagnostics, Department of Paediatric Laboratory Medicine, the Hospital for Sick Children, Toronto, Ontario, Canada., Merico D; The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada., Gregor A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Hopkin RJ; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio., Chu YW; Department of Paediatrics & Adolescent Medicine, Centre for Genomic Sciences, LKS Faculty of Medicine, the University of Hong Kong, Hong Kong., Chung BH; Department of Paediatrics & Adolescent Medicine, Centre for Genomic Sciences, LKS Faculty of Medicine, the University of Hong Kong, Hong Kong., de Vries BB; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Devriendt K; Centre for Human Genetics, KU Leuven, Leuven, Belgium., Hurles ME; Human Genetics, Wellcome Trust Sanger Institute, Cambridge, United Kingdom., Brunner HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.

مؤلفون مشاركون: DDD study

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2016 Mar; Vol. 170 (3), pp. 670-5. Date of Electronic Publication: 2016 Feb 03.

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

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: Point Mutation*, Abnormalities, Multiple/*genetics , Intellectual Disability/*genetics , Seizures/*genetics , Vesicular Transport Proteins/*genetics, Abnormalities, Multiple/diagnosis ; Abnormalities, Multiple/drug therapy ; Abnormalities, Multiple/pathology ; Adolescent ; Anticonvulsants/therapeutic use ; Child ; Child, Preschool ; Facies ; Failure to Thrive/diagnosis ; Failure to Thrive/drug therapy ; Failure to Thrive/genetics ; Failure to Thrive/pathology ; Female ; Gene Expression ; Humans ; Intellectual Disability/diagnosis ; Intellectual Disability/drug therapy ; Intellectual Disability/pathology ; Male ; Muscle Hypotonia/diagnosis ; Muscle Hypotonia/drug therapy ; Muscle Hypotonia/genetics ; Muscle Hypotonia/pathology ; Seizures/diagnosis ; Seizures/drug therapy ; Seizures/pathology ; Severity of Illness Index ; Syndrome ; Young Adult

المؤلفون: Ba W; Department of Human Genetics, Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands., Yan Y; Department of Neuroscience, UCONN Health Center, Farmington, CT 06030, USA., Reijnders MR; Department of Human Genetics., Schuurs-Hoeijmakers JH; Department of Human Genetics., Feenstra I; Department of Human Genetics., Bongers EM; Department of Human Genetics., Bosch DG; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands, Bartiméus, Institute for the Visually Impaired, Zeist, The Netherlands and., De Leeuw N; Department of Human Genetics., Pfundt R; Department of Human Genetics., Gilissen C; Department of Human Genetics., De Vries PF; Department of Human Genetics., Veltman JA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands, Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., Hoischen A; Department of Human Genetics., Mefford HC; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA, Howard Hughes Medical Institute, Seattle, WA 98195, USA., Vissers LE; Department of Human Genetics., Nadif Kasri N; Department of Human Genetics, Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands, bert.devries@radboudumc.nl n.nadif@donders.ru.nl., De Vries BB; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands, bert.devries@radboudumc.nl n.nadif@donders.ru.nl.

المصدر: Human molecular genetics [Hum Mol Genet] 2016 Mar 01; Vol. 25 (5), pp. 892-902. Date of Electronic Publication: 2015 Dec 31.

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-Electronic Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Autistic Disorder/*genetics , Guanine Nucleotide Exchange Factors/*genetics , Intellectual Disability/*genetics , Neurons/*metabolism , Protein Serine-Threonine Kinases/*genetics , Psychomotor Agitation/*genetics , Synapses/*metabolism, Adult ; Animals ; Autistic Disorder/metabolism ; Autistic Disorder/pathology ; Child ; Female ; Gene Expression ; Guanine Nucleotide Exchange Factors/deficiency ; Hippocampus/metabolism ; Hippocampus/pathology ; Humans ; Intellectual Disability/metabolism ; Intellectual Disability/pathology ; Male ; Neurogenesis ; Neurons/pathology ; Primary Cell Culture ; Protein Serine-Threonine Kinases/deficiency ; Psychomotor Agitation/metabolism ; Psychomotor Agitation/pathology ; Rats ; Sequence Analysis, DNA ; Severity of Illness Index ; Synapses/pathology

المؤلفون: Coe BP; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA., Witherspoon K; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA., Rosenfeld JA; Signature Genomics Laboratories, LLC, PerkinElmer, Inc., Spokane, Washington, USA., van Bon BW; 1] Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands. [2] SA Pathology, North Adelaide, South Australia, Australia., Vulto-van Silfhout AT; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Bosco P; IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Associazione Oasi Maria Santissima, Troina, Italy., Friend KL; SA Pathology, North Adelaide, South Australia, Australia., Baker C; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA., Buono S; IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Associazione Oasi Maria Santissima, Troina, Italy., Vissers LE; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Schuurs-Hoeijmakers JH; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Hoischen A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Krumm N; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA., Carvill GL; Department of Pediatrics, University of Washington, Seattle, Washington, USA., Li D; Representing the Autism Phenome Project, MIND Institute, University of California, Davis, Sacramento, California, USA., Amaral D; Representing the Autism Phenome Project, MIND Institute, University of California, Davis, Sacramento, California, USA., Brown N; 1] Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, Victoria, Australia. [2] Barwon Child Health Unit, Barwon Health, Geelong, Victoria, Australia., Lockhart PJ; 1] Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, Victoria, Australia. [2] Murdoch Childrens Research Institute, University of Melbourne, Royal Children's Hospital, Melbourne, Victoria, Australia., Scheffer IE; Florey Institute, University of Melbourne, Austin Health and Royal Children's Hospital, Melbourne, Victoria, Australia., Alberti A; IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Associazione Oasi Maria Santissima, Troina, Italy., Shaw M; SA Pathology, North Adelaide, South Australia, Australia., Pettinato R; IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Associazione Oasi Maria Santissima, Troina, Italy., Tervo R; Division of Developmental and Behavioral Pediatrics, Mayo Clinic, Rochester, Minnesota, USA., de Leeuw N; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Reijnders MR; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Torchia BS; Signature Genomics Laboratories, LLC, PerkinElmer, Inc., Spokane, Washington, USA., Peeters H; 1] Center for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven, Belgium. [2] Leuven Autism Research (LAuRes), Leuven, Belgium., O'Roak BJ; 1] Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA. [2]., Fichera M; 1] IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Associazione Oasi Maria Santissima, Troina, Italy. [2]., Hehir-Kwa JY; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Shendure J; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA., Mefford HC; Department of Pediatrics, University of Washington, Seattle, Washington, USA., Haan E; 1] SA Pathology, North Adelaide, South Australia, Australia. [2] School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, South Australia, Australia., Gécz J; 1] SA Pathology, North Adelaide, South Australia, Australia. [2] Robinson Institute, University of Adelaide, Adelaide, South Australia, Australia., de Vries BB; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Romano C; IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Associazione Oasi Maria Santissima, Troina, Italy., Eichler EE; 1] Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA. [2] Howard Hughes Medical Institute, Seattle, Washington, USA.

المصدر: Nature genetics [Nat Genet] 2014 Oct; Vol. 46 (10), pp. 1063-71. Date of Electronic Publication: 2014 Sep 14.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; 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: DNA Copy Number Variations*, Autistic Disorder/*genetics , Developmental Disabilities/*genetics , Genetic Predisposition to Disease/*genetics, Base Sequence ; Carrier Proteins/genetics ; Cell Cycle Proteins ; Child ; Chromosome Mapping ; Co-Repressor Proteins ; Comparative Genomic Hybridization ; DNA-Binding Proteins ; Female ; Genetic Association Studies ; Haploinsufficiency/genetics ; Humans ; Intellectual Disability/genetics ; Male ; Molecular Sequence Data ; Nuclear Proteins/genetics ; Polymorphism, Single Nucleotide ; Sequence Analysis, DNA