Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis.
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Recent advances in prenatal genetic screening and testingThe phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes.Arthrogryposis multiplex congenita: classification, diagnosis, perioperative care, and anesthesia.A Comprehensive Guide to the MAGE Family of Ubiquitin Ligases.Cellular and disease functions of the Prader-Willi Syndrome gene MAGEL2.Prader-Willi Syndrome and Schaaf-Yang Syndrome: Neurodevelopmental Diseases Intersecting at the MAGEL2 Gene.Dysfunctional oleoylethanolamide signaling in a mouse model of Prader-Willi syndrome.Sleeve gastrectomy leads to weight loss in the Magel2 knockout mouse.Magel2 knockout mice manifest altered social phenotypes and a deficit in preference for social novelty.The Prader-Willi syndrome proteins MAGEL2 and necdin regulate leptin receptor cell surface abundance through ubiquitination pathways.Muscle dysfunction caused by loss of Magel2 in a mouse model of Prader-Willi and Schaaf-Yang syndromes.Whole-exome Sequencing Helps the Diagnosis and Treatment in Children with Neurodevelopmental Delay Accompanied Unexplained Dyspnea.
P2860
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P2860
Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Truncating Mutations of MAGEL2 ...... ble for Severe Arthrogryposis.
@ast
Truncating Mutations of MAGEL2 ...... ble for Severe Arthrogryposis.
@en
type
label
Truncating Mutations of MAGEL2 ...... ble for Severe Arthrogryposis.
@ast
Truncating Mutations of MAGEL2 ...... ble for Severe Arthrogryposis.
@en
prefLabel
Truncating Mutations of MAGEL2 ...... ble for Severe Arthrogryposis.
@ast
Truncating Mutations of MAGEL2 ...... ble for Severe Arthrogryposis.
@en
P2093
P2860
P1476
Truncating Mutations of MAGEL2 ...... ble for Severe Arthrogryposis.
@en
P2093
Annie Laquerrière
Damien Sternberg
Dan Mejlachowicz
Fabienne Giuliano
Hanitra Ranjatoelina-Randrianaivo
Judith Melki
P2860
P304
P356
10.1016/J.AJHG.2015.08.010
P407
P577
2015-09-09T00:00:00Z