Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease - Wikidata - wikimedia - TriplyDB

Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease

Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease

http://www.wikidata.org/entity/Q34328787

about

A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy Major influence of repetitive elements on disease-associated copy number variants (CNVs)Determination of beta-defensin genomic copy number in different populations: a comparison of three methods.The PMP22 gene and its related diseases.Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.Genome editing-enabled HTS assays expand drug target pathways for Charcot-Marie-tooth disease.Detection of clinically relevant exonic copy-number changes by array CGH.Distal enhancers upstream of the Charcot-Marie-Tooth type 1A disease gene PMP22 Use of the MLPA assay in the molecular diagnosis of gene copy number alterations in human genetic diseases.Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher disease Non-coding genetic variants in human disease.Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3.Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia.Tead1 regulates the expression of Peripheral Myelin Protein 22 during Schwann cell development.PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies.Murine therapeutic models for Charcot-Marie-Tooth (CMT) disease.Application of whole-exome sequencing for detecting copy number variants in CMT1A/HNPP.PMP22 messenger RNA levels in skin biopsies: testing the effectiveness of a Charcot-Marie-Tooth 1A biomarker.Rare autosomal copy number variations in early-onset familial Alzheimer's disease.Waardenburg syndrome: a rare cause of inherited neuropathy due to SOX10 mutation.Testis-specific protein Y-encoded copy number is correlated to its expression and the field fertility of Canadian Holstein bulls.Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation.Regulation of the neuropathy-associated Pmp22 gene by a distal super-enhancer Myelin and Axon Pathology in a Long-Term Study ofPMP22-Overexpressing Mice Wide phenotypic variations in Charcot-Marie-Tooth 1A neuropathy with rare copy number variations on 17p12

P2860

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P2860

Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease

http://www.wikidata.org/entity/Q34328787

description

2009 nî lūn-bûn

@nan

2009 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

@hyw

2009 թվականի նոյեմբերին հրատարակված գիտական հոդված

@hy

2009年の論文

@ja

2009年論文

@yue

2009年論文

@zh-hant

2009年論文

@zh-hk

2009年論文

@zh-mo

2009年論文

@zh-tw

2009年论文

@wuu

name

Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease

@ast

Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease

@en

Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease

@nl

type

label

Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease

@ast

Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease

@en

Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease

@nl

prefLabel

Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease

@ast

Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease

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Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease

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P1433

European Journal of Human Genetics

P1476

Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease

@en

P2093

Farid Meggouh

http://www.w3.org/2001/XMLSchema#string

Fred van Ruissen

http://www.w3.org/2001/XMLSchema#string

Johnny P A Samijn

http://www.w3.org/2001/XMLSchema#string

Lou Bordewijk

http://www.w3.org/2001/XMLSchema#string

Marian A J Weterman

http://www.w3.org/2001/XMLSchema#string

Marit de Wissel

http://www.w3.org/2001/XMLSchema#string

W Ludo van der Pol

http://www.w3.org/2001/XMLSchema#string

P2860

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

Periaxin mutations cause recessive Dejerine-Sottas neuropathy.

Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene

A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene.

Genomic sequencing

Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

Direct assignment of the human beta B2 and beta B3 crystallin genes to 22q11.2----q12: markers for neurofibromatosis 2

Genes specifically expressed at growth arrest of mammalian cells

Recent segmental duplications in the human genome

P2888

P304

421-428

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scholarly article

P356

10.1038/EJHG.2009.186

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P433

4

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P478

18

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Fred van Ruissen

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2009-11-04T00:00:00Z

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P5875

38066072

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19888301

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2987248

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