المؤلفون: Reijnders, MRF, Zachariadis, V, Latour, B, Jolly, L, Mancini, GM, Pfundt, R, Wu, KM, van Ravenswaaij-Arts, CMA, Veenstra-Knol, HE, Anderlid, BMM, Wood, SA, Cheung, SW, Barnicoat, A, Probst, F, Magoulas, P, Brooks, AS, Malmgren, H, Harila-Saari, A, Marcelis, CM, Vreeburg, M, Hobson, E, Sutton, VR, Stark, Z, Vogt, J, Cooper, N, Lim, JY, Price, S, Lai, AHM, Domingo, D, Reversade, B, Gecz, J, Gilissen, C, Brunner, HG, Kini, U, Roepman, R, Nordgren, A, Kleefstra, T

المصدر: American journal of human genetics. 98(2):373-381

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:132983542

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المؤلفون: Goh J; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital.; Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Medical School., Wei H; Research Laboratory, KK Women's and Children's Hospital., Lai AHM; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital.; Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Medical School., Chang B; Opthalmology Service, KK Women's and Children's Hospital., Khan S; Opthalmology Service, KK Women's and Children's Hospital., Syn Y; Singapore National Eye Centre, Singapore., Jamuar SS; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital.; Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Medical School., Tan EC; Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Medical School.; Research Laboratory, KK Women's and Children's Hospital.

المصدر: Clinical dysmorphology [Clin Dysmorphol] 2024 Apr 01; Vol. 33 (2), pp. 63-68. Date of Electronic Publication: 2024 Feb 28.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: England NLM ID: 9207893 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1473-5717 (Electronic) Linking ISSN: 09628827 NLM ISO Abbreviation: Clin Dysmorphol Subsets: MEDLINE

مواضيع طبية MeSH: Aniridia*/genetics , Cataract*/genetics, Humans ; Face ; Exons ; Asia, Southeastern ; PAX6 Transcription Factor/genetics

المؤلفون: Tan EC; Research Laboratory, KK Women's and Children's Hospital, Singapore.; SingHealth Duke-NUS Academic Clinical Programme, Singapore., Lai AHM; SingHealth Duke-NUS Academic Clinical Programme, Singapore.; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore., Brett MSY; Research Laboratory, KK Women's and Children's Hospital, Singapore.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Jul; Vol. 188 (7), pp. 2135-2138. Date of Electronic Publication: 2022 Mar 15.

نوع المنشور: Case Reports; 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: Codon, Nonsense*/genetics , Hajdu-Cheney Syndrome*/genetics, Exons/genetics ; Humans ; Mutation ; Receptor, Notch2/genetics

SCR Disease Name: Serpentine fibula polycystic kidney syndrome

المؤلفون: Haag N; Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany., Tan EC; KK Research Centre/Genetics Service, KK Women's & Children's Hospital, Singapore, Singapore., Begemann M; Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany., Buschmann L; Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany., Kraft F; Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany., Holschbach P; Division of Neuropediatrics and Social Pediatrics, Department of Pediatrics, Medical Faculty, RWTH Aachen University, Aachen, Germany., Lai AHM; KK Research Centre/Genetics Service, KK Women's & Children's Hospital, Singapore, Singapore., Brett M; KK Research Centre/Genetics Service, KK Women's & Children's Hospital, Singapore, Singapore., Mochida GH; Division of Genetics and Genomics, Boston Children's Hospital, and Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA, USA., DiTroia S; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Pais L; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Neil JE; Division of Genetics and Genomics, Boston Children's Hospital, and Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA, USA.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA., Al-Saffar M; Division of Genetics and Genomics, Boston Children's Hospital, and Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA, USA.; Department of Paediatrics, College of Medical and Health Sciences, United Arab Emirates University, Al Ain, UAE., Bastaki L; Kuwait Medical Genetics Centre, Maternity Hospital, Shuwaikh, Kuwait., Walsh CA; Division of Genetics and Genomics, Boston Children's Hospital, and Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA, USA.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA., Kurth I; Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany., Knopp C; Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany. cknopp@ukaachen.de.

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2021 Nov; Vol. 29 (11), pp. 1663-1668. Date of Electronic Publication: 2021 Aug 20.

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

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: Loss of Function Mutation* , Phenotype*, Developmental Disabilities/*genetics , Intellectual Disability/*genetics , Membrane Proteins/*genetics , Microcephaly/*genetics , Proto-Oncogene Proteins/*genetics, Adult ; Child ; Developmental Disabilities/pathology ; Female ; Humans ; Intellectual Disability/pathology ; Male ; Microcephaly/pathology ; Mutation, Missense ; Pedigree

المؤلفون: Lin G; Research Laboratory, KK Women's and Children's Hospital, Singapore., Wei H; Research Laboratory, KK Women's and Children's Hospital, Singapore., Lai AHM; Department of Pediatrics, Genetics Service, KK Women's and Children's Hospital, Singapore.; SingHealth Duke-NUS Paediatrics Academic Programme, Singapore., Tan ES; Department of Pediatrics, Genetics Service, KK Women's and Children's Hospital, Singapore.; SingHealth Duke-NUS Paediatrics Academic Programme, Singapore., Lim JY; Department of Pediatrics, Genetics Service, KK Women's and Children's Hospital, Singapore., Cham B; Department of Pediatrics, Genetics Service, KK Women's and Children's Hospital, Singapore., Ling S; SingHealth Duke-NUS Paediatrics Academic Programme, Singapore.; Department of Pediatrics, Neurology Service, KK Women's and Children's Hospital, Singapore., Jamuar SS; Department of Pediatrics, Genetics Service, KK Women's and Children's Hospital, Singapore.; SingHealth Duke-NUS Paediatrics Academic Programme, Singapore., Tan EC; Research Laboratory, KK Women's and Children's Hospital, Singapore.; SingHealth Duke-NUS Paediatrics Academic Programme, Singapore.

المصدر: Journal of pediatric genetics [J Pediatr Genet] 2021 Oct 19; Vol. 12 (2), pp. 135-140. Date of Electronic Publication: 2021 Oct 19 (Print Publication: 2023).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Thieme Country of Publication: Germany NLM ID: 101589859 Publication Model: eCollection Cited Medium: Print ISSN: 2146-4596 (Print) Linking ISSN: 2146460X NLM ISO Abbreviation: J Pediatr Genet Subsets: PubMed not MEDLINE

المؤلفون: Rr P; General Pediatrics, KK Women's & Children's Hospital, Singapore. Electronic address: rr.pravin@mohh.com.sg., Douch C; General Pediatrics, University College London Hospital, United Kingdom., Aan Koh MJ; Dermatology Service, KK Women's & Children's Hospital, Singapore., Lai AHM; Genetics Service, Department of Pediatrics, KK Women's & Children's Hospital, Singapore., Lim CT; Department of Neuroradiology, National Neuroscience Institute, Singapore., Hartley L; Pediatric Neurology, The Royal London Hospital, United Kingdom., Thomas T; Pediatric Neurology Service, KK Women's & Children's Hospital, Singapore., Yeo TH; Pediatric Neurology Service, KK Women's & Children's Hospital, Singapore.

المصدر: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2021 Jul; Vol. 33, pp. 106-111. Date of Electronic Publication: 2021 May 31.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Saunders Country of Publication: England NLM ID: 9715169 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2130 (Electronic) Linking ISSN: 10903798 NLM ISO Abbreviation: Eur J Paediatr Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Brain Diseases*/etiology , Incontinentia Pigmenti*/complications, Adolescent ; Brain/diagnostic imaging ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Infant, Newborn ; Magnetic Resonance Imaging ; Seizures

المؤلفون: Wei H; Research Laboratory, KK Women's and Children's Hospital, Singapore, Singapore., Tan ES; Genetics Service, KK Women's and Children's Hospital, Singapore, Singapore.; Pediatrics Academic Clinical Programme, SingHealth Duke-NUS Graduate Medical School, Singapore, Singapore., Jamuar S; Genetics Service, KK Women's and Children's Hospital, Singapore, Singapore.; Pediatrics Academic Clinical Programme, SingHealth Duke-NUS Graduate Medical School, Singapore, Singapore., Lai AHM; Genetics Service, KK Women's and Children's Hospital, Singapore, Singapore.; Pediatrics Academic Clinical Programme, SingHealth Duke-NUS Graduate Medical School, Singapore, Singapore., Ng I; Genetics Service, KK Women's and Children's Hospital, Singapore, Singapore.; Pediatrics Academic Clinical Programme, SingHealth Duke-NUS Graduate Medical School, Singapore, Singapore., Tan EC; Research Laboratory, KK Women's and Children's Hospital, Singapore, Singapore.; Pediatrics Academic Clinical Programme, SingHealth Duke-NUS Graduate Medical School, Singapore, Singapore.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2020 Oct; Vol. 182 (10), pp. 2461-2465. Date of Electronic Publication: 2020 Aug 17.

نوع المنشور: Letter; Research Support, Non-U.S. Gov't; Comment

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: CHARGE Syndrome*, Asian People/genetics ; China/epidemiology ; DNA Helicases ; DNA-Binding Proteins/genetics ; Humans

المؤلفون: Lian S; Research Laboratory, KK Women's & Children's Hospital, Singapore., Ting TW; Genetics Service, Department of Paediatrics, KK Women's & Children's Hospital, Singapore; Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Medical School, Singapore., Lai AHM; Genetics Service, Department of Paediatrics, KK Women's & Children's Hospital, Singapore; Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Medical School, Singapore., Tan ES; Genetics Service, Department of Paediatrics, KK Women's & Children's Hospital, Singapore; Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Medical School, Singapore., Wei H; Research Laboratory, KK Women's & Children's Hospital, Singapore., Cham B; Genetics Service, Department of Paediatrics, KK Women's & Children's Hospital, Singapore., Tan EC; Research Laboratory, KK Women's & Children's Hospital, Singapore; Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Medical School, Singapore. Electronic address: tan.ene.choo@kkh.com.sg.

المصدر: Journal of the neurological sciences [J Neurol Sci] 2020 Jul 15; Vol. 414, pp. 116819. Date of Electronic Publication: 2020 Apr 04.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 0375403 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-5883 (Electronic) Linking ISSN: 0022510X NLM ISO Abbreviation: J Neurol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Abnormalities, Multiple*/genetics , DNA-Binding Proteins*/genetics , Hand Deformities, Congenital*/genetics , Intellectual Disability*/genetics , Micrognathism*/genetics , Transcription Factors*/genetics, Face/*abnormalities , Neck/*abnormalities, Humans ; Mutation/genetics

SCR Disease Name: Coffin-Siris syndrome