المؤلفون: Huisman, S, Mulder, PA, Redeker, E, Bader, I, Bisgaard, AM, Brooks, A, Cereda, A, Cinca, C, Clark, D, Cormier-Daire, V, Deardorff, MA, Diderich, K, Elting, M, van Essen, A, FitzPatrick, D, Gervasini, C, Gillessen-Kaesbach, G, Girisha, KM, Hilhorst-Hofstee, Y, Hopman, S, Horn, D, Isrie, M, Jansen, S (Silke), Jespersgaard, C, Kaiser, FJ, Kaur, M, Kleefstra, T, Krantz, ID, Lakeman, P, Landlust, A, Lessel, D, Michot, C, Moss, J, Noon, SE, Oliver, C, Parenti, I, Pie, J, Ramos, FJ, Rieubland, C, Russo, S, Selicorni, A, Tumer, Z, van de Vorstenbosch, R, Wenger, TL, van Balkom, I, Piening, S, Wierzba, J, Hennekam, RC

المصدر: Huisman , S , Mulder , PA , Redeker , E , Bader , I , Bisgaard , AM , Brooks , A , Cereda , A , Cinca , C , Clark , D , Cormier-Daire , V , Deardorff , MA , Diderich , K , Elting , M , van Essen , A , FitzPatrick , D , Gervasini , C , Gillessen-Kaesbach , G , Girisha , KM , Hilhorst-Hofstee , Y , Hopman , S , Horn , D , Isrie , M , Jansen , S , Jespersgaard , C , Kaiser , FJ , Kaur , M , Kleefstra , T , Krantz , ID , Lakeman , P , Landlust , A , Lessel , D , Michot , C , Moss , J , Noon , SE , Oliver , C , Parenti , I , Pie , J , Ramos , FJ , Rieubland , C , Russo , S , Selicorni , A , Tumer , Z , van de Vorstenbosch , R , Wenger , TL , van Balkom , I , Piening , S , Wierzba , J & Hennekam , RC 2017 , ' Phenotypes and genotypes in individuals with SMC1A variants ' , American Journal of Medical Genetics Part A , vol. 173 , no. 8 , pp. 2108-2125 .

مصطلحات الفهرس: dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01; name=EMC OR-01, article

URL: https://pure.eur.nl/en/publications/30a5ddcf-1b9b-4126-b458-fef59c6fbad8

المؤلفون: Huisman S; Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.; Prinsenstichting Institute, Purmerend, the Netherlands., Mulder PA; Autism Team Northern-Netherlands, Jonx Department of Youth Mental Health and Autism, Lentis Psychiatric Institute, Groningen, the Netherlands., Redeker E; Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands., Bader I; Division of Clinical Genetics, Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria., Bisgaard AM; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark., Brooks A; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands., Cereda A; Department of Pediatrics, ASST Papa Giovanni XXIII, Bergamo, Italy., Cinca C; División Genetica, Hospital de Clínicas José de San Martín, Universidad de Buenos Aires, Buenos Aires, Argentina., Clark D; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Cormier-Daire V; Department of Medical Genetics, Reference Center for Skeletal Dysplasia, INSERM UMR 1163, Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Paris Descartes-Sorbonne Paris Cité University, AP-HP, Institut Imagine, and Hôpital Universitaire Necker-Enfants Malades, Paris, France., Deardorff MA; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Diderich K; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands., Elting M; Department of Clinical Genetics, VU University Medical Center, Amsterdam, the Netherlands., van Essen A, FitzPatrick D; MRC Human Genetics Unit, IGMM, Western General Hospital, Edinburgh, United Kingdom., Gervasini C; Department of Health Sciences, Medical Genetics, University of Milan, Milan, Italy., Gillessen-Kaesbach G; Institut für Humangenetik Lübeck, Universitätsklinikum Schleswig-Holstein, Lübeck, Germany., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India., Hilhorst-Hofstee Y; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands., Hopman S; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Horn D; Institut für Medizinische Genetik und Humangenetik, Berlin, Germany., Isrie M; Department of Clinical Genetics, VU University Medical Center, Amsterdam, the Netherlands., Jansen S; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands., Jespersgaard C; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark., Kaiser FJ; Section for Functional Genetics, Institute of Human Genetics, University of Lübeck, Lübeck, Germany., Kaur M; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Kleefstra T; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands., Krantz ID; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Lakeman P; Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands., Landlust A; Autism Team Northern-Netherlands, Jonx Department of Youth Mental Health and Autism, Lentis Psychiatric Institute, Groningen, the Netherlands., Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Michot C; Department of Medical Genetics, Reference Center for Skeletal Dysplasia, INSERM UMR 1163, Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Paris Descartes-Sorbonne Paris Cité University, AP-HP, Institut Imagine, and Hôpital Universitaire Necker-Enfants Malades, Paris, France., Moss J; Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham, United Kingdom.; Institute of Cognitive Neuroscience, University College London, London, United Kingdom., Noon SE; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Oliver C; Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham, United Kingdom., Parenti I; Institut für Humangenetik Lübeck, Universitätsklinikum Schleswig-Holstein, Lübeck, Germany.; Section for Functional Genetics, Institute of Human Genetics, University of Lübeck, Lübeck, Germany., Pie J; Laboratorio de Genética Clínica y Genómica Funcional, Facultad de Medicina, Universidad de Zaragoza, Zaragoza, Spain., Ramos FJ; Unidad de Genética Clínica, Servicio de Pediatría, Hospital Clínico Universitario 'Lozano Blesa' CIBERER-GCV02 and Departamento de Pediatría, Facultad de Medicina, Universidad de Zaragoza, Zaragoza, Spain., Rieubland C; Division of Human Genetics, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Russo S; Molecular Biology Laboratory, Istituto Auxologico Italiano, Milan, Italy., Selicorni A; UOC Pediatria, ASST Lariana, Como, Italy., Tümer Z; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark., Vorstenbosch R; Severinus Institute, Veldhoven, the Netherlands., Wenger TL; Division of Craniofacial Medicine, Seattle Children's Hospital, Seattle, Washington., van Balkom I; Autism Team Northern-Netherlands, Jonx Department of Youth Mental Health and Autism, Lentis Psychiatric Institute, Groningen, the Netherlands., Piening S; Autism Team Northern-Netherlands, Jonx Department of Youth Mental Health and Autism, Lentis Psychiatric Institute, Groningen, the Netherlands., Wierzba J; Departments of Pediatrics, Hematology, Oncology and Department of General Nursery, Medical University of Gdansk, Gdansk, Poland., Hennekam RC; Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2017 Aug; Vol. 173 (8), pp. 2108-2125. Date of Electronic Publication: 2017 May 26.

نوع المنشور: 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: Cell Cycle Proteins/*genetics , Chromosomal Proteins, Non-Histone/*genetics , De Lange Syndrome/*genetics , Proteins/*genetics , Rett Syndrome/*genetics, Adolescent ; Adult ; Child ; Child, Preschool ; De Lange Syndrome/diagnosis ; De Lange Syndrome/physiopathology ; Exome/genetics ; Humans ; Infant ; Infant, Newborn ; Male ; Middle Aged ; Netherlands/epidemiology ; Rett Syndrome/diagnosis ; Rett Syndrome/physiopathology ; Spasms, Infantile/diagnosis ; Spasms, Infantile/genetics ; Spasms, Infantile/physiopathology ; Young Adult

SCR Disease Name: Infantile Epileptic-Dyskinetic Encephalopathy

المؤلفون: Schwartz E; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Wilkens A; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Noon SE; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Krantz ID; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania., Wu Y; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2017 Mar; Vol. 173 (3), pp. 809-812.

نوع المنشور: Case Reports; Letter

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

مواضيع طبية MeSH: Cleft Palate/*genetics , Developmental Disabilities/*genetics , Diseases in Twins/*genetics , Matrix Attachment Region Binding Proteins/*genetics , Transcription Factors/*genetics, Child ; Cleft Palate/complications ; Cleft Palate/physiopathology ; Developmental Disabilities/complications ; Developmental Disabilities/physiopathology ; Diseases in Twins/physiopathology ; Humans ; Male ; Point Mutation ; Twins, Monozygotic/genetics

المؤلفون: Mehta D; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Noon SE; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Schwartz E; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Wilkens A; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Bedoukian EC; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Scarano I; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Crenshaw EB 3rd; Center for Childhood Communication, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Otorhinolaryngology: Head and Neck Surgery, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania., Krantz ID; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania. ian2@mail.med.upenn.edu.; The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania. ian2@mail.med.upenn.edu.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2016 Oct; Vol. 170 (10), pp. 2523-30. Date of Electronic Publication: 2016 Aug 02.

نوع المنشور: 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: Hearing Loss/*diagnosis , Hearing Loss/*epidemiology, Adolescent ; Child ; Child, Preschool ; Connexins/genetics ; Disease Management ; Electrocardiography ; Female ; Genetic Counseling ; Genetic Testing ; Genotype ; Hearing Loss/genetics ; Humans ; Infant ; Infant, Newborn ; Kidney/abnormalities ; Magnetic Resonance Imaging ; Male ; Mutation ; Outcome Assessment, Health Care ; Population Surveillance ; Prevalence ; Syndrome ; Temporal Bone/diagnostic imaging ; Temporal Bone/pathology ; Thyroid Gland/abnormalities

المؤلفون: Cacioppo CN, Conway LJ, Mehta D, Krantz ID, Noon SE

المصدر: American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2016 Jun; Vol. 172 (2), pp. 229-36. Date of Electronic Publication: 2016 May 10.

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

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235745 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4876 (Electronic) Linking ISSN: 15524868 NLM ISO Abbreviation: Am J Med Genet C Semin Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Self-Help Groups*, De Lange Syndrome/*psychology, Attitude ; Child ; Humans ; Internet ; Parents ; Surveys and Questionnaires

المؤلفون: Kaur M, Mehta D, Noon SE, Deardorff MA, Zhang Z, Krantz ID

المصدر: American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2016 Jun; Vol. 172 (2), pp. 163-70. Date of Electronic Publication: 2016 Apr 29.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235745 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4876 (Electronic) Linking ISSN: 15524868 NLM ISO Abbreviation: Am J Med Genet C Semin Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: De Lange Syndrome/*pathology , Proteins/*genetics, Cell Cycle Proteins ; De Lange Syndrome/diagnosis ; De Lange Syndrome/genetics ; Female ; Gene Expression Regulation ; Humans ; Male ; Mutation ; Phenotype ; Polymerase Chain Reaction ; Proteins/analysis ; Severity of Illness Index

المؤلفون: Mehta D, Vergano SA, Deardorff M, Aggarwal S, Barot A, Johnson DM, Miller NF, Noon SE, Kaur M, Jackson L, Krantz ID

المصدر: American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2016 Jun; Vol. 172 (2), pp. 155-62. Date of Electronic Publication: 2016 Apr 27.

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

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235745 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4876 (Electronic) Linking ISSN: 15524868 NLM ISO Abbreviation: Am J Med Genet C Semin Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: De Lange Syndrome/*genetics , Limb Deformities, Congenital/*genetics, Child ; Cognition Disorders ; Congenital Abnormalities ; De Lange Syndrome/pathology ; Humans ; Lower Extremity Deformities, Congenital/genetics ; Mutation ; Retrospective Studies ; Upper Extremity Deformities, Congenital/genetics

المؤلفون: Katz OL, Krantz ID, Noon SE

المصدر: American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2016 Jun; Vol. 172 (2), pp. 92-101. Date of Electronic Publication: 2016 Apr 20.

نوع المنشور: Case Reports; Journal Article; Review

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235745 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4876 (Electronic) Linking ISSN: 15524868 NLM ISO Abbreviation: Am J Med Genet C Semin Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Chromosome Deletion*, Abnormalities, Multiple/*genetics , Brain/*abnormalities, Child ; Chromosomes, Human, Pair 7/genetics ; Developmental Disabilities/genetics ; Facies ; Humans ; Male ; Muscular Atrophy/genetics

SCR Disease Name: Thakker Donnai syndrome

المؤلفون: Zhao J, Noon SE, Krantz ID, Wu Y

المصدر: American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2016 Jun; Vol. 172 (2), pp. 102-8. Date of Electronic Publication: 2016 Apr 13.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235745 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4876 (Electronic) Linking ISSN: 15524868 NLM ISO Abbreviation: Am J Med Genet C Semin Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Chromosome Deletion*, Developmental Disabilities/*genetics , Hearing Loss, Sensorineural/*genetics, Carrier Proteins/genetics ; Child, Preschool ; Chromosomes, Human, Pair 7/genetics ; Cystic Fibrosis Transmembrane Conductance Regulator/genetics ; Female ; Genome, Human ; Humans ; Membrane Transport Proteins ; N-Terminal Acetyltransferase C/genetics ; Nerve Tissue Proteins/genetics ; Nuclear Proteins ; Polymorphism, Single Nucleotide ; Proteins/genetics ; Ribonucleoprotein, U4-U6 Small Nuclear/genetics

المؤلفون: Noon SE, Deardorff MA, Krantz ID

المصدر: American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2016 Jun; Vol. 172 (2), pp. 72-5. Date of Electronic Publication: 2016 May 05.

نوع المنشور: Biography; Historical Article; Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235745 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4876 (Electronic) Linking ISSN: 15524868 NLM ISO Abbreviation: Am J Med Genet C Semin Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Molecular Biology/*history, History, 20th Century ; History, 21st Century ; United States

Personal Name as Subject: Jackson LG