About: A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes.

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About: A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes. Goto Sponge NotDistinct Permalink

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scientific article published on 10 March 2017

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rdf:type	Item
description	videnskabelig artikel (da) article científic (ca) articolo scientifico (it) artigo científico (pt) bilimsel makale (tr) vedecký článok (sk) vetenskaplig artikel (sv) vědecký článek (cs) wetenschappelijk artikel (nl) wissenschaftlicher Artikel (de) научни чланак (sr) article scientifique (fr) artículu científicu espublizáu en 2017 (ast) наукова стаття, опублікована в березні 2017 (uk) مقالة علمية نشرت في 10 مارس 2017 (ar) scientific article published on 10 March 2017 (en) 2017 թվականի մարտի 10-ին հրատարակված գիտական հոդված (hy)
publication date	wds:Q37692326-7DE1451C-0FBF-4715-B773-EB9840AADB87
publication date	2017-03-10 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q37692326-089815DA-D815-4F0C-9416-010D01405333
language of work or name	English
exact match	wds:Q37692326-EE5E619A-B5F7-47D8-8BE9-AACC1722EC46
exact match	https://scigraph.springernature.com/pub.10.1038/srep44138
cites work	wds:Q37692326-04F44136-B9FD-4108-A451-E7D00519883E wds:Q37692326-11A4605B-C089-469C-A766-F6610C038A79 wds:Q37692326-1817C34A-4833-4F29-81F4-FDA0C02D7A6C wds:Q37692326-262D18E3-40F8-4024-8BDD-72C08176AC60 wds:Q37692326-31A22164-D4BA-4346-A533-B89D71370C75 wds:Q37692326-3995C4E2-AFDF-4311-AA3F-7BE3D57117D8 wds:Q37692326-6A656EF0-6E1E-4064-BB8C-5697E9B35106 wds:Q37692326-6D40D411-DE67-4774-BEFC-CC5682E89024 wds:Q37692326-75F779D3-AEEC-49D7-8538-7E17C3E8DDD7 wds:Q37692326-8D83E819-C17A-4208-A9A0-119F45C33BBC wds:Q37692326-8DFABEC9-411C-4F55-8728-7877CFA88A5D wds:Q37692326-A4139817-CB73-4F9D-9859-20A304002D2A wds:Q37692326-A6D57DE0-2AEA-451D-BFF3-D47A1C81466C wds:Q37692326-AB5C68E9-41F0-4BED-9584-C737DBA8C47C wds:Q37692326-BF13CC4C-C12A-45D5-8F82-DC944DE2A335 wds:Q37692326-C1401129-144A-44DC-8D83-B8C576438968 wds:Q37692326-C461EBC8-7DDD-4B4C-94CF-F19231FB78FA wds:Q37692326-C7E15FAF-CFAF-4321-8098-2C09025061DC wds:Q37692326-C803F065-058D-472B-90CD-78024B121A90 wds:Q37692326-C8619A3A-EE3C-40BA-8C12-D7D68EDD16F8 wds:Q37692326-CF425AD7-8B43-42D3-BDA0-C1ADA6B848C7 wds:Q37692326-D61CC93C-71D2-4914-B2CD-E75694E80E01 wds:Q37692326-D7E76965-51EB-4340-881B-53CEC07BBE13 wds:Q37692326-DC83B9CB-F78F-4FA7-9C83-9DA2CB9EB00C wds:Q37692326-DF4B31B9-4FC8-4222-B54B-B3AF447B375E wds:Q37692326-EDEEFB72-4E04-4C7B-971F-6C8895E475FE
cites work	De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome Regulation of WASH-dependent actin polymerization and protein trafficking by ubiquitination Predicting the functional effect of amino acid substitutions and indels Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation Primer3--new capabilities and interfaces An overview of the MAGE gene family with the identification of all human members of the family The retromer complex - endosomal protein recycling and beyond USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder Common variation contributes to the genetic architecture of social communication traits. Ubiquitination-deubiquitination by the TRIM27-USP7 complex regulates tumor necrosis factor alpha-induced apoptosis Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations. Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP. A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort Exome Sequencing Reveals AMER1 as a Frequently Mutated Gene in Colorectal Cancer Deficiency of Trim27 protects dopaminergic neurons from apoptosis in the neurotoxin model of Parkinson's disease Mortality and pathological findings in C (Opitz trigonocephaly) syndrome Opitz trigonocephaly syndrome presenting with sudden unexplained death in the operating room: a case report The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families The stability of epigenetic factor ASXL1 is regulated through ubiquitination and USP7-mediated deubiquitination. Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance. Magel2, a Prader-Willi syndrome candidate gene, modulates the activities of circadian rhythm proteins in cultured cells Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes.
author name string	wds:Q37692326-0B1ADF58-9D3D-4F44-A351-6B43EDDD6ABD wds:Q37692326-1B5B3AED-5604-4CCF-B5F1-92A92E5104C3 wds:Q37692326-63995CB7-1550-4AE6-8AB7-883C8D31103F wds:Q37692326-66226027-B482-4338-97E8-BB88536864D2 wds:Q37692326-8B35345C-EA1F-42C3-B59B-577BD4795A95 wds:Q37692326-C8ACC049-D283-423E-9C42-6B377EA51174 wds:Q37692326-FDE2A967-7762-4585-8415-703F2E2C1CE3 wds:Q37692326-FE6876D7-67E3-44CC-94F4-70D5F1863F75
author name string	Giovanni Neri Julia Ponomarenko Lluïsa Vilageliu Jochen Hecht Eduardo F Tizzano Carlos Company Anna Maria Cueto-Gonzalez Sílvia Mort-Farre
rdfs:label	A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes. (en) A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes. (nl) A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes. (ast)
skos:prefLabel	A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes. (en) A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes. (nl) A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes. (ast)
name	A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes. (en) A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes. (nl)

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