About: A Novel Mutation of in a Patient with Schaaf-Yang Syndrome and Hypopituitarism

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scientific article published on 01 July 2018

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в липні 2018 (uk) im Juli 2018 veröffentlichter wissenschaftlicher Artikel (de) scientific article published on 01 July 2018 (en) artículu científicu espublizáu en xunetu de 2018 (ast)
publication date	wds:Q57496443-17E2A599-09D7-4137-95C6-CDCA236975DC
publication date	2018-07-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q57496443-5665B1F6-C922-4B50-9707-26FC1B7009F5
language of work or name	English
cites work	wds:Q57496443-07927BCC-185A-44FD-A907-6063BC5A1614 wds:Q57496443-17E2C5EA-051B-46AF-A999-C480316ED7CB wds:Q57496443-27E51836-1DC9-4D7D-8B3B-9FFB64A39F85 wds:Q57496443-2D83578B-410D-468D-BD11-F608AAF8C30A wds:Q57496443-34B2EBDA-E641-4F5A-BE40-9513180F7557 wds:Q57496443-481BB8DC-C8DC-4F0F-984A-848EA084B081 wds:Q57496443-4D749C25-A67E-4BF2-964E-9E4383ED982D wds:Q57496443-63090EE0-A217-4511-9380-50A94A6FD166 wds:Q57496443-6771CA0E-8D96-4F3F-8D68-33AA26CEB69C wds:Q57496443-8739C208-6038-4D15-8C55-22266BED42A1 wds:Q57496443-92470EF6-EA38-4859-A6BD-E56B28244CC8 wds:Q57496443-9D3E7B87-CB20-4D98-B377-D294463A210E wds:Q57496443-A8B4F4E6-2FE1-47AE-8A6C-32E2F45E3CB9 wds:Q57496443-D2856FB4-7C08-447C-B661-6B133CAB893E wds:Q57496443-D6D2314B-0BBA-4BD3-A95C-5CDC5105E35D wds:Q57496443-F9CCBE8A-57AF-4B11-BF7E-7502A0B1E6E3
cites work	High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing. Impaired hypothalamic regulation of endocrine function and delayed counterregulatory response to hypoglycemia in Magel2-null mice. Inactivation of the mouse Magel2 gene results in growth abnormalities similar to Prader-Willi syndrome Mental and motor development before and during growth hormone treatment in infants and toddlers with Prader-Willi syndrome. Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism Endocrine manifestations and management of Prader-Willi syndrome Prader-Willi syndrome and growth hormone deficiency In Pursuit of New Imprinting Syndromes by Epimutation Screening in Idiopathic Neurodevelopmental Disorder Patients The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families Pitfalls of trio-based exome sequencing: imprinted genes and parental mosaicism-MAGEL2 as an example. Whole-exome Sequencing Helps the Diagnosis and Treatment in Children with Neurodevelopmental Delay Accompanied Unexplained Dyspnea. A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes. Phenotype of two Polish patients with Schaaf-Yang syndrome confirmed by identifying mutation in MAGEL2 gene. Hormonal, metabolic and skeletal phenotype of Schaaf-Yang syndrome: a comparison to Prader-Willi syndrome. Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders. Cellular and disease functions of the Prader-Willi Syndrome gene MAGEL2.
author name string	wds:Q57496443-1050C5C9-4D30-442B-87BF-9132821A2506 wds:Q57496443-285AD3F6-B9FB-4C60-8D6C-E72D3AC71346 wds:Q57496443-43DCDE77-A107-42F3-9DA0-EF93E460807F wds:Q57496443-8FDF9B78-67E0-44E7-A7D4-15C567A9B013 wds:Q57496443-9A43FB23-CDAD-4EC0-9750-AE30F65959E3 wds:Q57496443-FAC53E7B-5986-4294-8872-01B88EEC69E8
author name string	Mónica Roselló Miguel Tomás-Vila Antonio D Hidalgo-Santos Francisca Moreno-Macián Maria Del Carmen DeMingo-Alemany Sara León-Cariñena
rdfs:label	A Novel Mutation of in a Patient with Schaaf-Yang Syndrome and Hypopituitarism (en) A Novel Mutation of in a Patient with Schaaf-Yang Syndrome and Hypopituitarism (nl)
skos:prefLabel	A Novel Mutation of in a Patient with Schaaf-Yang Syndrome and Hypopituitarism (en) A Novel Mutation of in a Patient with Schaaf-Yang Syndrome and Hypopituitarism (nl)
name	A Novel Mutation of in a Patient with Schaaf-Yang Syndrome and Hypopituitarism (en) A Novel Mutation of in a Patient with Schaaf-Yang Syndrome and Hypopituitarism (nl)
author	wds:Q57496443-2EEB71C5-A08C-4F80-8E4E-F3CCE50DFA63 wds:Q57496443-5B4CF1E0-EBFE-4BE9-8DE4-505ADF386CAF wds:Q57496443-F1C780C3-7D10-4BBB-9F29-C8D2018D8F14
author	Francisco Martinez Carmen Orellana Alfonso Caro-Llopis
title	wds:Q57496443-265A8917-846A-4E23-A1A9-ECD95D95121F
title	A Novel Mutation of MAGEL2 in a Patient with Schaaf-Yang Syndrome and Hypopituitarism (en)
page(s)	wds:Q57496443-B8FA11A6-C25C-476B-A57B-76E41586DCA5
page(s)	e67329
instance of	wds:Q57496443-3BABB153-33FE-4DB4-9FEE-87FEC7AC82BE wds:Q57496443-c9b4023b-5565-4e14-b096-2cd83e3faf9e
instance of	scholarly article case report
main subject	wds:Q57496443-E3E9F193-4055-45DF-AE18-A88E726BE780
main subject	Prader-Willi syndrome due to point mutation
PubMed ID	wds:Q57496443-EE6D0F17-4F87-4BB0-82DF-E1803B2C0CBC
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/30323850
PubMed ID	30323850
published in	wds:Q57496443-65147F23-99F5-4804-BBC3-F0A0C1445BA5
published in	International journal of endocrinology and metabolism
issue	wds:Q57496443-1867DCA6-8201-4A77-BD90-505362C86F7A
volume	wds:Q57496443-2BF009C8-6CF6-40D4-A8AF-3E2444858322
issue	3
volume	16
DOI	wds:Q57496443-D2289645-2924-42B7-AE90-3F3D3AB1A3C7
DOI	http://dx.doi.org/10.5812/IJEM.67329
DOI	10.5812/IJEM.67329
PMCID	wds:Q57496443-743205EC-2E5A-4E35-820D-0501F1F0074B
PMCID	6176277
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q57496443
is cites work of	Mutations in MAGEL2 and L1CAM Are Associated With Congenital Hypopituitarism and Arthrogryposis Emerging Roles of the MAGE Protein Family in Stress Response Pathways Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy MAGEL2-related disorders: A study and case series
is cites work of	wds:Q90028444-B7AE7B4A-B12F-421F-B8B7-DC7B0374BFB4 wds:Q99402564-B639CD81-A819-47D1-A099-721237D11144 wds:Q91612189-0E44ACE7-6186-49FA-A504-511F05A86641 wds:Q92522024-6BCFEC4B-A1DE-4958-8468-5A2AC586950A

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