Isolation of a candidate gene for Norrie disease by positional cloning. - Wikidata - awgldk - TriplyDB

Isolation of a candidate gene for Norrie disease by positional cloning.

Isolation of a candidate gene for Norrie disease by positional cloning.

http://www.wikidata.org/entity/Q31158480

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Mouse cristin/R-spondin family proteins are novel ligands for the Frizzled 8 and LRP6 receptors and activate beta-catenin-dependent gene expression X-arrestin: a new retinal arrestin mapping to the X chromosome Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure Specific genetic deficiencies of the A and B isoenzymes of monoamine oxidase are characterized by distinct neurochemical and clinical phenotypes X-linked borderline mental retardation with prominent behavioral disturbance: phenotype, genetic localization, and evidence for disturbed monoamine metabolism Frizzled Receptors in Development and Disease Norrin immunolocalization and its possible functions in rat endometrium during the estrus cycle and early pregnancy Behavioral outcomes of monoamine oxidase deficiency: preclinical and clinical evidence.Recent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid, and vitreous.Identification of differentially expressed genes in early inner ear development A fetus with an X;1 balanced reciprocal translocation and eye disease.Monoamine oxidase in neuropsychiatry and behavior.Wnt signaling in angiogenesis Linkage analysis of Norrie disease with an X-chromosomal ornithine aminotransferase locus.Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins.The molecular biology of Norrie's disease.A novel nonsense mutation in the NDP gene in a Chinese family with Norrie disease.Audiologic features of Norrie disease.High-resolution genomic microarrays for X-linked mental retardation.The autosomal dominant dystonias.X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms.Long-term consequences of developmental vascular defects on retinal vessel homeostasis and function in a mouse model of Norrie disease.A novel locus for X-linked congenital cataract on Xq24.The canonical Wnt signaling antagonist DKK2 is an essential effector of PITX2 function during normal eye development.Characterization and mapping of the mouse NDP (Norrie disease) locus (Ndp).Multi-functional norrin is a ligand for the LGR4 receptor.The Wnt signaling pathway in familial exudative vitreoretinopathy and Norrie disease.Manifesting heterozygosity in Norrie's disease?Mutations in the Norrie disease gene: a new mutation in a Japanese family.Retinopathy of prematurity in infants of birth weight > 2000 g after haemorrhagic shock at birth.A novel Norrie disease pseudoglioma gene mutation, c.-1_2delAAT, responsible for Norrie disease in a Chinese family.Genetic testing for inherited ocular disease: delivering on the promise at last?Mapping QTL for an adaptive trait: the length of caudal fin in Lates calcarifer.Agonists and Antagonists of TGF-β Family Ligands.Neurovascular cross talk in diabetic retinopathy: Pathophysiological roles and therapeutic implications.Molecular genetics as a 'probe' in ophthalmology.Structure and functional properties of Norrin mimic Wnt for signalling with Frizzled4, Lrp5/6, and proteoglycan.Ophthalmology in the post-genomic era The recognition and investigation of X-linked learning disability syndromes.Complex genetics of familial exudative vitreoretinopathy and related pediatric retinal detachments.

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P2860

Isolation of a candidate gene for Norrie disease by positional cloning.

http://www.wikidata.org/entity/Q31158480

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1992 nî lūn-bûn

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1992 թուականի Յունիսին հրատարակուած գիտական յօդուած

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1992 թվականի հունիսին հրատարակված գիտական հոդված

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1992年の論文

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1992年学术文章

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1992年学术文章

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1992年学术文章

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1992年学术文章

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1992年學術文章

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name

Isolation of a candidate gene for Norrie disease by positional cloning.

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Isolation of a candidate gene for Norrie disease by positional cloning.

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Isolation of a candidate gene for Norrie disease by positional cloning.

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Isolation of a candidate gene for Norrie disease by positional cloning.

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Isolation of a candidate gene for Norrie disease by positional cloning.

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Isolation of a candidate gene for Norrie disease by positional cloning.

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Nature Genetics

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Isolation of a candidate gene for Norrie disease by positional cloning.

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Bergen AA

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Berger W

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Cremers FP

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Döerner C

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Lebo R

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Ropers HH

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Warburg M

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Cloning of a gene that is rearranged in patients with choroideraemia

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