Mouse and hamster mutants as models for Waardenburg syndromes in humans. - Wikidata - awgldk - TriplyDB

Mouse and hamster mutants as models for Waardenburg syndromes in humans.

Mouse and hamster mutants as models for Waardenburg syndromes in humans.

http://www.wikidata.org/entity/Q30495399

about

Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I)Waardenburg syndrome Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium Genetically altered mouse models: the good, the bad, and the ugly.Prion protein gene analysis in three kindreds with fatal familial insomnia (FFI): codon 178 mutation and codon 129 polymorphism Waardenburg syndrome (WS): the analysis of a single family with a WS1 mutation showing linkage to RFLP markers on human chromosome 2q.Functional melanocytes derived from human pluripotent stem cells engraft into pluristratified epidermis.Analyses of loss-of-function mutations of the MITF gene suggest that haploinsufficiency is a cause of Waardenburg syndrome type 2A.Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes.Waardenburg syndrome type I: Dental phenotypes and genetic analysis of an extended family.Pigmentation PAX-ways: the role of Pax3 in melanogenesis, melanocyte stem cell maintenance, and disease Phenotypic heterogeneity and the single gene.Rare Association of Waardenburg Syndrome with Minimal Change Disease.

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P2860

Mouse and hamster mutants as models for Waardenburg syndromes in humans.

http://www.wikidata.org/entity/Q30495399

description

1990 nî lūn-bûn

@nan

1990 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

1990 թվականի հոտեմբերին հրատարակված գիտական հոդված

@hy

1990年の論文

@ja

1990年論文

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1990年論文

@zh-hant

1990年論文

@zh-hk

1990年論文

@zh-mo

1990年論文

@zh-tw

1990年论文

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name

Mouse and hamster mutants as models for Waardenburg syndromes in humans.

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Mouse and hamster mutants as models for Waardenburg syndromes in humans.

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type

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Mouse and hamster mutants as models for Waardenburg syndromes in humans.

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Mouse and hamster mutants as models for Waardenburg syndromes in humans.

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Mouse and hamster mutants as models for Waardenburg syndromes in humans.

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Mouse and hamster mutants as models for Waardenburg syndromes in humans.

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Journal of Medical Genetics

P1476

Mouse and hamster mutants as models for Waardenburg syndromes in humans.

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P2093

Asher JH Jr

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Friedman TB

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P2860

Human proto-oncogene c-kit: a new cell surface receptor tyrosine kinase for an unidentified ligand

A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness.

The human homologs of the raf (mil) oncogene are located on human chromosomes 3 and 4

Upper limb involvement in the Klein-Waardenburg syndrome

Interstitial deletion of the long arm of chromosome 2 with normal levels of isocitrate dehydrogenase.

Deletion 2q: two new cases with karyotypes 46,XY,del(2)(q31q33) and 46,XX,del(2)(q36).

Interstitial deletion of the long arm of chromosome 2: del(2)(q31q33).

A case of deletion 2q35----qter and a peculiar phenotype.

An Association of Hereditary Eye Defects with White Spotting.

Lysosomal dysfunctions associated with mutations at mouse pigment genes.

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618-626

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scholarly article

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10.1136/JMG.27.10.618

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10

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27

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1990-10-01T00:00:00Z

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20908842

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2246770

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1017240

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