About: The spectrum of genetic variants and phenotypic features of Southeast Asian patients with Noonan syndrome

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description	article (en) wetenschappelijk artikel (nl) article scientifique publié en 2019 (fr) im Februar 2019 veröffentlichter wissenschaftlicher Artikel (de) наукова стаття, опублікована у квітні 2019 (uk)
publication date	wds:Q64229496-CFDCF90B-7EEF-4BFC-9AB8-E95BD5C8DE8C
publication date	2019-02-19 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q64229496-136B6E45-3173-4EB1-837A-FC28C6729E14
language of work or name	English
cites work	wds:Q64229496-012610BD-9EC6-4219-A686-C53F3BCFC170 wds:Q64229496-068F7BEB-67D0-4752-9714-D1C59A9EF8EE wds:Q64229496-183201D8-2CF3-42B7-98CB-E03DF17F8EAB wds:Q64229496-222F8735-8D2E-4237-AD99-143D3367AC05 wds:Q64229496-2333B9EE-6417-48BA-A094-772DAA60AA52 wds:Q64229496-2F5E1513-B3A8-4C5E-B3C4-5D68E5E16EDA wds:Q64229496-30872C63-02C0-4A93-81CF-E28A3A1086F1 wds:Q64229496-37489AE9-0D3A-4297-9B24-AF672B6E7A90 wds:Q64229496-45A478F7-881C-467E-A8CC-F9DA8F65142F wds:Q64229496-45E1D6AD-65EE-47A6-A167-577ADB827D9F wds:Q64229496-46EF0852-54D8-411F-BF2D-19D4B566F01F wds:Q64229496-4AB2FFCE-AEDC-4B3D-AA0F-2C05597B939F wds:Q64229496-4E1F8AB4-04E4-4F9D-96BC-6940E3FC617E wds:Q64229496-4EF1CB4A-DFC6-47AF-98B6-AC1BB11C31C2 wds:Q64229496-6EF7842E-53C2-4FEF-B527-07214A7E55C6 wds:Q64229496-8AF59670-76A1-4EC7-8717-7BD1AE51D5B8 wds:Q64229496-8F067597-3029-46AA-A016-EB25C4827F5D wds:Q64229496-9AA432B9-65C1-435D-8D10-235CAEB8984D wds:Q64229496-9D75A070-9D34-4F24-8B52-BA7E371B90D0 wds:Q64229496-9E0115F3-D6F8-4ABB-82CD-24ED8B6D7FA8 wds:Q64229496-A2FE7A62-6C9B-459D-B484-346052664A69 wds:Q64229496-A7D79550-5F5D-42AC-BB30-BE769FB86FC9 wds:Q64229496-A94CFE92-CA0B-4A17-893B-8D594F6EC9AC wds:Q64229496-B4E1BC9F-53EC-476D-951A-5B7C5027661E wds:Q64229496-C201A487-2440-4A6C-A5CF-83C0A1F14766 wds:Q64229496-C30640F4-C628-4790-AE37-A576A6C2ED4D wds:Q64229496-C4E6FA95-E4BE-4457-B1C6-07C496BE722F wds:Q64229496-CADC2983-4169-492E-815E-8C176C4498D7 wds:Q64229496-D1BF8A62-9D91-49E2-BB06-A69D32561F32 wds:Q64229496-D92A17C2-88E4-426A-8118-462C5D222604 wds:Q64229496-DF63BC2D-0B20-486B-9435-AF5951E0E99D wds:Q64229496-E47586D1-CC0B-4449-8E36-C3435D8F3113 wds:Q64229496-E56BA4ED-09CF-4EE2-B4DD-4B55D952D4E2 wds:Q64229496-E6D1553F-EFEB-41D3-93CC-F9E00CEF0C09 wds:Q64229496-E749ACB7-AB4D-41B7-95A2-06DE73024F1F wds:Q64229496-EC8E91C0-3248-4227-9839-053E6C309256 wds:Q64229496-F7A03336-9797-4204-AECF-D5CDFA390690
cites work	The spectrum of cardiac anomalies in Noonan syndrome as a result of mutations in the PTPN11 gene. Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. Ras/MAPK syndromes and childhood hemato-oncological diseases Noonan syndrome: clinical features, diagnosis, and management guidelines Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations wANNOVAR: annotating genetic variants for personal genomes via the web. Clinical and molecular studies in a large Dutch family with Noonan syndrome Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy Germline gain-of-function mutations in SOS1 cause Noonan syndrome Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome Germline KRAS mutations cause Noonan syndrome PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal Noonan syndrome: clinical aspects and molecular pathogenesis The Ullrich-Noonan syndrome (Turner phenotype). Genotype differences in cognitive functioning in Noonan syndrome Genotype-phenotype correlations in Noonan syndrome SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascade. Noonan syndrome The RASopathies Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation Further evidence of the importance of RIT1 in Noonan syndrome. Spectrum of mutations in Noonan syndrome and their correlation with phenotypes. Clinical manifestations of mutations in RAS and related intracellular signal transduction factors Noonan syndrome - a new survey PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations Hotspots in PTPN11 Gene Among Indian Children With Noonan Syndrome. Noonan syndrome in diverse populations. New Mutations Associated with Rasopathies in a Central European Population and Genotype-Phenotype Correlations ClinGen's RASopathy Expert Panel consensus methods for variant interpretation Clinical Presentation and Natural History of Hypertrophic Cardiomyopathy in RASopathies. Phenotypic spectrum of 80 Greek patients referred as Noonan syndrome and PTPN11 mutation analysis: the value of initial clinical assessment Noonan syndrome-causing genes: Molecular update and an assessment of the mutation rate
author name string	wds:Q64229496-03E14312-CCCF-45AA-AC37-C46AB120362A wds:Q64229496-1B65E7C8-B03F-4A39-B4FC-733842ED410B wds:Q64229496-1C7F8C7B-B914-4B72-BD1C-7782C5A88FAD wds:Q64229496-609959CA-AA13-49CA-BCB0-6DAAFA3B1104 wds:Q64229496-780C63FB-AFF3-43E8-9332-8696A981565E wds:Q64229496-DF48792E-6A1F-4FC1-9D1E-B40C767C52B1
author name string	Angeline H M Lai Maggie S Brett Ivy Ng Saumya Shekhar Jamuar Ee-Shien Tan Ai-Ling Koh
rdfs:label	The spectrum of genetic variants and phenotypic features of Southeast Asian patients with Noonan syndrome (en) The spectrum of genetic variants and phenotypic features of Southeast Asian patients with Noonan syndrome (nl)
skos:prefLabel	The spectrum of genetic variants and phenotypic features of Southeast Asian patients with Noonan syndrome (en) The spectrum of genetic variants and phenotypic features of Southeast Asian patients with Noonan syndrome (nl)

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