MMG PUBLICATIONS

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Results: 4167  publications found.

Genet Med. 2019 Jun, .  et al. 0

Piard J

10.1038/s41436-018-0339-3
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Villard L, .  et al. 0

Rodriguez D

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David, .  et al. 0

Christophe; Villard

Martin";Coverage Analysis of Lists of Genes involved in Heterogeneous Genetic Diseases following Benchtop Exome Sequencing using the Ion Proton;Journal of...
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Ana, .  et al. 0

Jean-Christophe; Dorboz

Pierre; Lévy
and programmed cell death. BAP31 is encoded by BCAP31 - issue: and central hypomyelination and disorganize the Golgi apparatus.;American journal of human genetics;;1537-6605 0002-9297;10.1016/j.ajhg.2013.07.023;;BAP31 is one of the most abundant endoplasmic reticulum (ER) membrane proteins. It is a chaperone protein - volume: including ER-associated degradation - pages: Laurent";Mutations in BCAP31 cause a severe X-linked phenotype with deafness.

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Genet Med. 2019 Apr, .  et al. 0

Mignot C

10.1038/s41436-018-0268-1
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Missirian C, .  et al. 0

Borges A

Lindsay S
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Nicolas, .  et al. 0

Ana; Saudou

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which together define an X-linked syndrome. In the primary fibroblasts of affected individuals, .  et al. 0

we found that BCAP31 deficiency altered ER morphology and caused a disorganization of the Golgi apparatus in a significant proportion of cells. Contrary to what has been described with transient-RNA-interference experiments

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we hypothesized that the observed phenotype was due to mutations in the same gene, .  et al. 0

and we performed exome sequencing in three affected individuals. Analysis of rare variants in genes consistent with an autosomal-recessive mode of inheritance led to identification of mutations in SLC13A5

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Hum Genet. 2018 Sep, .  et al. 0

Bramswig NC

10.1007/s00439-018-1929-5
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Molinari F, .  et al. 0

Becq H

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Agathe, .  et al. 0

Florence; Becq

we investigated functional consequences and subcellular distribution of the p.V175L mutation of Kv7.2 (Kv7.2(V175L) ) found in a patient presenting EOEE. We observed that the mutation produced a...
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revealing a devastating epileptic phenotype associated with TBC1D24 dysfunction., .  et al. 0

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, .  et al. 0

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Genet Med. 2019 Mar, .  et al. 0

Valence S

10.1038/s41436-018-0089-2
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Lacoste C, .  et al. 0

Abidi A

Isidor B
Lebrun M - issue: Ville D - volume: Marignier S - pages: Laroche C.

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Bilal, .  et al. 0

Anne; Milh

genetic studies are limited because most cases are sporadic and mendelian forms are rare. METHODS: In order to identify new genetic causes in patients presenting defects of cortical organisation
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Asa", .  et al. 0

orthoses and physical effort in a Swedish population with arthrogryposis.;Journal of children's orthopaedics;;1863-2521 1863-2548;10.1007/s11832-014-0597-9;;"PURPOSE: Excessive movements during walking have been observed by gait analysis in children with arthrogryposis (AMC) using orthoses compared to children using only shoes. The aim of this study was to evaluate energy expenditure and functional exercise capacity in children with AMC. METHODS: Twenty-four children with AMC and 25 typically developing (TD) children underwent oxygen measurement and the 6-minute walk test (6MWT). Children were divided into AMC1 using knee-ankle-foot orthoses with locked knee joints (KAFO-LK); AMC2 KAFOs with open knee joints (KAFO-O) or ankle-foot orthoses (AFO); and AMC3 using shoes. RESULTS: The net non-dimensional oxygen cost (NNcost) was lower in TD (0.308) than in AMC2 (0.455

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