Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24 - Wikidata - wikimedia - TriplyDB

Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24

Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24

http://www.wikidata.org/entity/Q28292269

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Genetic studies of the Roma (Gypsies): a review Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35 A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies)Origins and divergence of the Roma (gypsies)Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a candidate gene.N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma Charcot-Marie-Tooth disease and intracellular traffic Differential expression patterns of NDRG family proteins in the central nervous system Ndrg1-deficient mice exhibit a progressive demyelinating disorder of peripheral nerves Edg-2 in myelin-forming cells: isoforms, genomic mapping, and exclusion in Charcot-Marie-Tooth disease A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness.Detecting population growth, selection and inherited fertility from haplotypic data in humans.Charcot-marie-tooth disease and related neuropathies: molecular basis for distinction and diagnosis.Hereditary motor and sensory neuropathy Lom type in a Serbian family Mutation history of the roma/gypsies.Genomewide scan in families with schizophrenia from the founder population of Afrikaners reveals evidence for linkage and uniparental disomy on chromosome 1 KT3.2 and KT3.3, two novel human two-pore K(+) channels closely related to TASK-1.NDRG1 protein overexpression in malignant thyroid neoplasms.A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23.Genome screens using linkage disequilibrium tests: optimal marker characteristics and feasibility.A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 1q21.2-q21.3.Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D A Gly98Val mutation in the N-Myc downstream regulated gene 1 (NDRG1) in Alaskan Malamutes with polyneuropathy Dejerine-Sottas disease and hereditary demyelinating polyneuropathy of infancy.Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33.Locus-wide identification of Egr2/Krox20 regulatory targets in myelin genes NDRG1 links p53 with proliferation-mediated centrosome homeostasis and genome stability.Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease.Molecular diagnostics of Charcot-Marie-Tooth disease and related peripheral neuropathies.Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes.The autosomal recessive form of CMT disease linked to 5q31-q33.Association of Differentiation-Related Gene-1 (DRG1) with Breast Cancer Survival and in Vitro Impact of DRG1 Suppression.HMSN Lom in 12 Czech patients, with one unusual case due to uniparental isodisomy of chromosome 8.HSMNR belongs to the most frequent types of hereditary neuropathy in the Czech Republic and is twice more frequent than HMSNL.Molecular basis of genetic heterogeneity: role of the clinical neurologist.Carrier rates of four single-gene disorders in Croatian Bayash Roma.Ultrastructural changes in peripheral nerve in hereditary motor and sensory neuropathy-Lom.

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P2860

Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24

http://www.wikidata.org/entity/Q28292269

description

1996 nî lūn-bûn

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1996 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

1996 թվականի հոտեմբերին հրատարակված գիտական հոդված

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1996年の論文

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1996年学术文章

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1996年学术文章

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1996年学术文章

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1996年学术文章

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1996年学术文章

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1996年學術文章

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name

Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24

@ast

Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24

@en

Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24

@nl

type

label

Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24

@ast

Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24

@en

Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24

@nl

prefLabel

Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24

@ast

Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24

@en

Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24

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Nature Genetics

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Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24

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Angelicheva D

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Chandler D

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Georgieva V

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Hallmayer J

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Honeyman K

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Hristova A

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Ishpekova B

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Kalaydjieva L

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King RH

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Middleton L

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A manic depressive history.

P2888

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214-217

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10.1038/NG1096-214

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2

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14

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Francesc Calafell

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1996-10-01T00:00:00Z

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8841199

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