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المؤلفون: Angelozzi M; Surgery/Division of Orthopaedic Surgery, The Children's Hospital of Philadelphia Research Institute, Philadelphia, Pennsylvania, USA., Karvande A; Surgery/Division of Orthopaedic Surgery, The Children's Hospital of Philadelphia Research Institute, Philadelphia, Pennsylvania, USA., Molin AN; Surgery/Division of Orthopaedic Surgery, The Children's Hospital of Philadelphia Research Institute, Philadelphia, Pennsylvania, USA., Ritter AL; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Leonard JMM; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Savatt JM; Autism & Developmental Medicine Institute, Geisinger, Danville, Pennsylvania, USA., Douglass K; Autism & Developmental Medicine Institute, Geisinger, Danville, Pennsylvania, USA., Myers SM; Autism & Developmental Medicine Institute, Geisinger, Danville, Pennsylvania, USA., Grippa M; U.O. Genetica Medica, Universita di Bologna, Bologna, Italy., Tolchin D; Surgery/Division of Orthopaedic Surgery, The Children's Hospital of Philadelphia Research Institute, Philadelphia, Pennsylvania, USA., Zackai E; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Donoghue S; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Hurst ACE; Department of Genetics, The University of Alabama at Birmingham School of Medicine, Birmingham, Alabama, USA., Descartes M; Department of Genetics, The University of Alabama at Birmingham School of Medicine, Birmingham, Alabama, USA., Smith K; Department of Genetics, The University of Alabama at Birmingham School of Medicine, Birmingham, Alabama, USA., Velasco D; Department of Pediatrics, University of Nebraska Medical Center, Omaha, Nebraska, USA., Schmanski A; Department of Pediatrics, University of Nebraska Medical Center, Omaha, Nebraska, USA., Crunk A; GeneDx Inc, Gaithersburg, Maryland, USA., Tokita MJ; GeneDx Inc, Gaithersburg, Maryland, USA., de Lange IM; Department of Medical Genetics, University Medical Centre Utrecht Brain Centre, Utrecht, The Netherlands., van Gassen K; Department of Medical Genetics, University Medical Centre Utrecht Brain Centre, Utrecht, The Netherlands., Robinson H; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Guegan K; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Suri M; Clinical Genetics, Nottingham University Hospitals NHS Trust, Nottingham, UK., Patel C; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, Queensland, Australia., Bournez M; Centres de référence Anomalies du Développement et Syndrome Malformatifs, Centre Hospitalier Universitaire de Dijon, Dijon, France., Faivre L; Centre de Génétique, Centre Hospitalier Universitaire de Dijon Hôpital d'Enfants, Dijon, France., Tran-Mau-Them F; Genetics of Developmental Disorders, INSERM - Bourgogne Franche-Comté University, UMR 1231 GAD Team, Dijon, France.; Functional Unit 6254 Innovation in Genomic Diagnosis of Rare Diseases, CHU Dijon Bourgogne, Dijon, France., Baker J; Genomics and Genetic Medicine, Children's Minnesota, Minneapolis, Minnesota, USA., Fabie N; Genomics and Genetic Medicine, Children's Minnesota, Minneapolis, Minnesota, USA., Weaver K; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Shillington A; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Hopkin RJ; Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Barge-Schaapveld DQCM; Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Ruivenkamp CA; Laboratory for Diagnostic Genome Analyses, Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Bökenkamp R; Department of Pediatric Cardiology, Leiden University Medical Center, Leiden, The Netherlands., Vergano S; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA., Seco Moro MN; Clinical Analysis Department, Hospital Universitario de Móstoles, Mostoles, Spain., Díaz de Bustamante A; Department of Genetics, Hospital Universitario de Móstoles, Mostoles, Spain., Misra VK; Department of Pediatrics, Division of Genetic, Genomic, and Metabolic Disorders, Children's Hospital of Michigan, Detroit, Michigan, USA.; Discipline of Pediatrics, Central Michigan University, Mount Pleasant, Michigan, USA., Kennelly K; Department of Pediatrics, Children's Hospital of Michigan, Detroit, Michigan, USA., Rogers C; Department of Molecular and Medical Genetics, Oregon Health & Science University School of Medicine, Portland, Oregon, USA., Friedman J; Department of Pediatrics, University of California San Diego, San Diego, California, USA.; Division of Genetics/Dysmorphology and Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California, USA.; Department of Neurosciences, University of California San Diego, San Diego, California, USA.; Division of Neurology, Rady Children's Hospital, San Diego, California, USA., Wigby KM; Department of Pediatrics, University of California San Diego, San Diego, California, USA.; Division of Genetics/Dysmorphology and Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California, USA., Lenberg J; Division of Genetics/Dysmorphology and Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California, USA., Graziano C; Department of Pediatrics, University of California San Diego, San Diego, California, USA claudio.graziano2@auslromagna.it AhrensNicklasR@chop.edu lefebvrev1@chop.edu.; Division of Genetics/Dysmorphology and Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California, USA.; Department of Neurosciences, University of California San Diego, San Diego, California, USA.; Division of Neurology, Rady Children's Hospital, San Diego, California, USA.; U.O. Genetica Medica, AUSL della Romagna Rimini, Cesena, Italy., Ahrens-Nicklas RC; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA claudio.graziano2@auslromagna.it AhrensNicklasR@chop.edu lefebvrev1@chop.edu., Lefebvre V; Surgery/Division of Orthopaedic Surgery, The Children's Hospital of Philadelphia Research Institute, Philadelphia, Pennsylvania, USA claudio.graziano2@auslromagna.it AhrensNicklasR@chop.edu lefebvrev1@chop.edu.

المصدر: Journal of medical genetics [J Med Genet] 2022 Nov; Vol. 59 (11), pp. 1058-1068. Date of Electronic Publication: 2022 Mar 01.

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

بيانات الدورية: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Micrognathism*/genetics , Hand Deformities, Congenital*/genetics , Intellectual Disability*/genetics , Neurodevelopmental Disorders*/genetics, Humans ; Syndrome ; Phenotype ; DNA ; SOXC Transcription Factors/genetics

SCR Disease Name: Coffin-Siris syndrome

المؤلفون: van Rij MC; Department of Clinical genetics, Leiden University Medical Centre, Postzone K5-R, PO box 9600, 2300 RC, Leiden, The Netherlands. m.c.vanrij@lumc.nl., Grijsen ML; Department of Dermatology, Leiden University Medical Centre, Leiden, The Netherlands., Appelman-Dijkstra NM; Department of Endocrinology, Leiden University Medical Centre, Leiden, The Netherlands., Hansson KB; Department of Clinical genetics, Leiden University Medical Centre, Postzone K5-R, PO box 9600, 2300 RC, Leiden, The Netherlands., Ruivenkamp CA; Department of Clinical genetics, Leiden University Medical Centre, Postzone K5-R, PO box 9600, 2300 RC, Leiden, The Netherlands., Mulder K; Department of Dermatology, Leiden University Medical Centre, Leiden, The Netherlands., van Doorn R; Department of Dermatology, Leiden University Medical Centre, Leiden, The Netherlands., Oranje AP; Kinderhuid.nl Teledermatology, Rotterdam, Dermicis Skin Clinic Alkmaar, Practice for Hair and skin, Breda, The Netherlands., Kant SG; Department of Clinical genetics, Leiden University Medical Centre, Postzone K5-R, PO box 9600, 2300 RC, Leiden, The Netherlands.

المصدر: European journal of pediatrics [Eur J Pediatr] 2017 Feb; Vol. 176 (2), pp. 279-283. Date of Electronic Publication: 2016 Dec 30.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7603873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1076 (Electronic) Linking ISSN: 03406199 NLM ISO Abbreviation: Eur J Pediatr Subsets: MEDLINE

مواضيع طبية MeSH: Rothmund-Thomson Syndrome/*diagnosis, Adult ; Bone Diseases, Metabolic/diagnosis ; Bone and Bones/abnormalities ; Calcinosis/diagnosis ; Chromosomes, Human, Pair 8 ; Delayed Diagnosis ; Humans ; Intellectual Disability/diagnosis ; Lymphoma, Non-Hodgkin/diagnosis ; Male ; Ossification, Heterotopic/diagnosis ; Osteoporosis/diagnosis ; Skin Diseases, Genetic/diagnosis ; Syndrome ; Trisomy

SCR Disease Name: Chromosome 8, trisomy; Osseous Heteroplasia, Progressive

المؤلفون: Dogrusöz M; Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands., Bagger M; Department of Ophthalmology, Copenhagen University Hospital Rigshospitalet, Glostrup, Denmark 3Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., van Duinen SG; Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands., Kroes WG; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Ruivenkamp CA; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Böhringer S; Department of Medical Statistics and Bioinformatics, Leiden University Medical Center, Leiden, The Netherlands., Andersen KK; Department of Statistics, Bioinformatics and Registry, Danish Cancer Society Research Center, Copenhagen, Denmark., Luyten GP; Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands., Kiilgaard JF; Department of Ophthalmology, Copenhagen University Hospital Rigshospitalet, Glostrup, Denmark., Jager MJ; Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands.

المصدر: Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2017 Feb 01; Vol. 58 (2), pp. 833-842.

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

بيانات الدورية: Publisher: Association For Research In Vision And Ophthalmology (Arvo) Country of Publication: United States NLM ID: 7703701 Publication Model: Print Cited Medium: Internet ISSN: 1552-5783 (Electronic) Linking ISSN: 01460404 NLM ISO Abbreviation: Invest Ophthalmol Vis Sci Subsets: MEDLINE

مواضيع طبية MeSH: Chromosomes, Human, Pair 3* , Chromosomes, Human, Pair 8* , Gene Amplification* , Monosomy*, Melanoma/*genetics , Neoplasm Staging/*methods , Uveal Neoplasms/*genetics, Advisory Committees ; Aged ; Aged, 80 and over ; Denmark/epidemiology ; Female ; Humans ; Male ; Melanoma/mortality ; Melanoma/pathology ; Middle Aged ; Prognosis ; Regression Analysis ; Retrospective Studies ; Survival Analysis ; Uveal Neoplasms/mortality ; Uveal Neoplasms/pathology

SCR Disease Name: Uveal melanoma

المؤلفون: Fountain MD; Interdepartmental Program in Translational Biology and Molecular Medicine, Baylor College of Medicine, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas, USA., Aten E; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Cho MT; GeneDX, Gaithersburg, Maryland, USA., Juusola J; GeneDX, Gaithersburg, Maryland, USA., Walkiewicz MA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Ray JW; Division of Medical Genetics, University of Texas Medical Branch, Galveston, Texas, USA.; Department of Pediatrics, The University of Texas Medical School at Houston, Houston, Texas, USA., Xia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Graham BH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Potocki L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Ruivenkamp CA; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Mancias P; Department of Pediatrics, The University of Texas Medical School at Houston, Houston, Texas, USA., Northrup H; Department of Pediatrics, The University of Texas Medical School at Houston, Houston, Texas, USA., Kukolich MK; Genetic Services, Cook Children's Health Care System, Fort Worth, Texas, USA., Weiss MM; Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands., van Ravenswaaij-Arts CM; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Mathijssen IB; Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands., Levesque S; Département de pédiatrie, Centre Hospitalier Universitaire de Sherbrooke, Sherbrooke, Quebec, Canada., Meeks N; Children's Hospital Colorado, Aurora, Colorado, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Lemke D; Children's Hospital Colorado, Aurora, Colorado, USA., Hamosh A; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Lewis SK; Department of Medical Genetics, BC Children's and Women's Health Center of British Columbia, The University of British Columbia, Vancouver, British Columbia, Canada., Race S; Department of Medical Genetics, BC Children's and Women's Health Center of British Columbia, The University of British Columbia, Vancouver, British Columbia, Canada., Stewart LL; Department of Pediatrics, BC Children's and Women's Health Center of British Columbia, The University of British Columbia, Vancouver, British Columbia, Canada., Hay B; Division of Genetics, UMass Memorial Children's Medical Center, University of Massachusetts Medical School, Worcester, Massachusetts, USA., Lewis AM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Guerreiro RL; Department of Molecular Neuroscience, University College London Institute of Neurology, London, UK., Bras JT; Department of Molecular Neuroscience, University College London Institute of Neurology, London, UK., Martins MP; Centro Hospitalar de Trás-os-Montes e Alto Douro, Unidade Hospital de Vila Real, Vila Real, Portugal., Derksen-Lubsen G; Department of Pediatrics, Juliana Children's Hospital-Haga Teaching Hospital, The Hague, The Netherlands., Peeters E; Department of Child Neurology, Juliana Children's Hospital-Haga Teaching Hospital, The Hague, The Netherlands., Stumpel C; Department of Clinical Genetics and School for Oncology and Developmental Biology, Maastricht UMC+, Maastricht, The Netherlands., Stegmann S; Department of Clinical Genetics and School for Oncology and Developmental Biology, Maastricht UMC+, Maastricht, The Netherlands., Bok LA; Department of Pediatrics, Máxima Medical Center, Veldhoven, The Netherlands., Santen GW; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Schaaf CP; Interdepartmental Program in Translational Biology and Molecular Medicine, Baylor College of Medicine, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas, USA.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2017 Jan; Vol. 19 (1), pp. 45-52. Date of Electronic Publication: 2016 May 19.

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

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Autism Spectrum Disorder/*genetics , Developmental Disabilities/*genetics , Intellectual Disability/*genetics , Prader-Willi Syndrome/*genetics , Proteins/*genetics, Adolescent ; Adult ; Autism Spectrum Disorder/physiopathology ; Child ; Child, Preschool ; Chromosomes, Human, Pair 15 ; Developmental Disabilities/physiopathology ; Female ; Gene Expression ; Genomic Imprinting ; Humans ; Infant ; Infant, Newborn ; Intellectual Disability/physiopathology ; Male ; Mutation ; Phenotype ; Prader-Willi Syndrome/physiopathology

المؤلفون: Khan S; Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology (KUST), Kohat, Khyber Pakhtunkhwa, Pakistan., Ullah I; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan., Nasir A; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan., Meijer CA; Department of Radiology, MC Haaglanden, The Hague, The Netherlands., Laurense-Bik M; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands., den Dunnen JT; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands., Ruivenkamp CA; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands., Hoffer MJ; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands., Santen GW; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands., Ahmad W; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.

مؤلفون مشاركون: Irfanullah; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2016 Dec; Vol. 170 (12), pp. 3289-3293. Date of Electronic Publication: 2016 Aug 29.

نوع المنشور: Case Reports; Journal Article

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: Mutation* , Phenotype*, Abnormalities, Multiple/*diagnosis , Abnormalities, Multiple/*genetics , Cerebellum/*abnormalities , Ciliopathies/*diagnosis , Ciliopathies/*genetics , Eye Abnormalities/*diagnosis , Eye Abnormalities/*genetics , Kidney Diseases, Cystic/*diagnosis , Kidney Diseases, Cystic/*genetics , Proteins/*genetics , Retina/*abnormalities, Adolescent ; Child ; DNA Mutational Analysis ; Exome ; Female ; Genetic Association Studies ; Genotype ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Pakistan ; Pedigree ; Quantitative Trait Loci ; Radiography ; Young Adult

SCR Disease Name: Agenesis of Cerebellar Vermis

المؤلفون: Hoekstra AS; Department of Human Genetics., Addie RD; Center for Proteomics and Metabolomics.; Department of Pathology., Ras C; Department of Biotechnology, Delft University of Technology, Delft, The Netherlands., Seifar RM; Department of Biotechnology, Delft University of Technology, Delft, The Netherlands., Ruivenkamp CA; Department of Clinical Genetics., Briaire-de Bruijn IH; Department of Pathology., Hes FJ; Department of Clinical Genetics., Jansen JC; Department of Otorhinolaryngology., Corssmit EP; Department of Endocrinology and Metabolic Diseases, Leiden University Medical Center, Leiden, The Netherlands., Corver WE; Department of Pathology., Morreau H; Department of Pathology., Bovée JV; Department of Pathology., Bayley JP; Department of Human Genetics., Devilee P; Department of Human Genetics p.devilee@lumc.nl.; Department of Pathology.

المصدر: Human molecular genetics [Hum Mol Genet] 2016 Sep 01; Vol. 25 (17), pp. 3715-3728. Date of Electronic Publication: 2016 Jul 08.

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: Cyclin-Dependent Kinase Inhibitor p57/*metabolism , Organic Cation Transport Proteins/*metabolism , Paraganglioma/*genetics , Succinate Dehydrogenase/*genetics, Cell Line, Tumor ; Cell Proliferation ; Chromosomes, Human, Pair 11/genetics ; Female ; Gene Expression Regulation, Neoplastic ; Gene Knockdown Techniques ; Humans ; Models, Genetic ; Molecular Imprinting ; Paraganglioma/metabolism ; Succinic Acid/metabolism

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: Lemke JR, Geider K, Helbig KL, Heyne HO, Schütz H, Hentschel J, Courage C, Depienne C, Nava C, Heron D, Møller RS, Hjalgrim H, Lal D, Neubauer BA, Nürnberg P, Thiele H, Kurlemann G, Arnold GL, Bhambhani V, Bartholdi D, Pedurupillay CR, Misceo D, Frengen E, Strømme P, Dlugos DJ, Doherty ES, Bijlsma EK, Ruivenkamp CA, Hoffer MJ, Goldstein A, Rajan DS, Narayanan V, Ramsey K, Belnap N, Schrauwen I, Richholt R, Koeleman BP, Sá J, Mendonça C, de Kovel CG, Weckhuysen S, Hardies K, De Jonghe P, De Meirleir L, Milh M, Badens C, Lebrun M, Busa T, Francannet C, Piton A, Riesch E, Biskup S, Vogt H, Dorn T, Helbig I, Michaud JL, Laube B, Syrbe S

المصدر: Neurology [Neurology] 2016 Jun 07; Vol. 86 (23), pp. 2171-8. Date of Electronic Publication: 2016 May 06.

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

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Nerve Tissue Proteins/*genetics , Nerve Tissue Proteins/*metabolism , Receptors, N-Methyl-D-Aspartate/*genetics , Receptors, N-Methyl-D-Aspartate/*metabolism, Animals ; Cohort Studies ; Consanguinity ; Heterozygote ; Homozygote ; Humans ; Intellectual Disability/genetics ; Intellectual Disability/metabolism ; Movement Disorders/genetics ; Movement Disorders/metabolism ; Oocytes ; Phenotype ; Seizures/genetics ; Seizures/metabolism ; Xenopus laevis

المؤلفون: Wit JM; Departments of PaediatricsClinical GeneticsLeiden University Medical Center, PO Box 9600, 2300 RC Leiden, The Netherlands j.m.wit@lumc.nl., Oostdijk W; Departments of PaediatricsClinical GeneticsLeiden University Medical Center, PO Box 9600, 2300 RC Leiden, The Netherlands., Losekoot M; Departments of PaediatricsClinical GeneticsLeiden University Medical Center, PO Box 9600, 2300 RC Leiden, The Netherlands., van Duyvenvoorde HA; Departments of PaediatricsClinical GeneticsLeiden University Medical Center, PO Box 9600, 2300 RC Leiden, The Netherlands., Ruivenkamp CA; Departments of PaediatricsClinical GeneticsLeiden University Medical Center, PO Box 9600, 2300 RC Leiden, The Netherlands., Kant SG; Departments of PaediatricsClinical GeneticsLeiden University Medical Center, PO Box 9600, 2300 RC Leiden, The Netherlands.

المصدر: European journal of endocrinology [Eur J Endocrinol] 2016 Apr; Vol. 174 (4), pp. R145-73. Date of Electronic Publication: 2015 Nov 17.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 9423848 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1479-683X (Electronic) Linking ISSN: 08044643 NLM ISO Abbreviation: Eur J Endocrinol Subsets: MEDLINE

مواضيع طبية MeSH: Growth Disorders/*genetics, Bone Morphogenetic Proteins/genetics ; Bone Morphogenetic Proteins/metabolism ; Dwarfism, Pituitary/genetics ; Fibroblast Growth Factors/deficiency ; Fibroblast Growth Factors/genetics ; Human Growth Hormone/deficiency ; Human Growth Hormone/genetics ; Humans ; Insulin-Like Growth Factor I/deficiency ; Insulin-Like Growth Factor I/genetics ; Insulin-Like Growth Factor I/metabolism ; Insulin-Like Growth Factor II/deficiency ; Insulin-Like Growth Factor II/genetics ; Parathyroid Hormone-Related Protein/deficiency ; Parathyroid Hormone-Related Protein/genetics ; Receptor, IGF Type 1/genetics ; Signal Transduction/genetics ; Syndrome ; Wnt Signaling Pathway/genetics