Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively - Wikidata - awgldk - TriplyDB

Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively

Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively

http://www.wikidata.org/entity/Q24633194

about

Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark Human cone photoreceptor dependence on RPE65 isomerase Novel mutations in MERTK associated with childhood onset rod-cone dystrophy Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success.Genomewide scan in families with schizophrenia from the founder population of Afrikaners reveals evidence for linkage and uniparental disomy on chromosome 1 Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy The retinal pigment epithelium in health and disease Complete paternal uniparental isodisomy of chromosome 1 resulting in Herlitz junctional epidermolysis bullosa.TAM receptor tyrosine kinases: biologic functions, signaling, and potential therapeutic targeting in human cancer.A degenerative retinal process in HIV-associated non-infectious retinopathy An ENU-induced mutation in the Mertk gene (Mertknmf12) leads to a slow form of retinal degeneration.Increased expression of MERTK is associated with a unique form of canine retinopathy Mertk deficiency alters expression of micrornas in the retinal pigment epithelium cells Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa.A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements.Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease 1q25.2-q31.3 Deletion in a female with mental retardation, clinodactyly, minor facial anomalies but no growth retardation.Preclinical potency and safety studies of an AAV2-mediated gene therapy vector for the treatment of MERTK associated retinitis pigmentosa.Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genes Unravelling the genetic basis of simplex Retinitis Pigmentosa cases.Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome.Tyrosine-mutant AAV8 delivery of human MERTK provides long-term retinal preservation in RCS rats.Whole exome sequencing in a patient with uniparental disomy of chromosome 2 and a complex phenotype.The consequences of uniparental disomy and copy number neutral loss-of-heterozygosity during human development and cancer.Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical report.Gene Therapy for MERTK-Associated Retinal Degenerations.Outer Segment Thickness Predicts Visual Field Response to QLT091001 in Patients with RPE65 or LRAT Mutations.Paternal isodisomy for chromosome 2 as the cause of Crigler-Najjar type I syndrome.An unusual presentation of macular corneal dystrophy associated with uniparental isodisomy and a novel Leu173Pro mutation.Human umbilical tissue-derived cells rescue retinal pigment epithelium dysfunction in retinal degeneration.Complete paternal uniparental isodisomy for Chromosome 2 revealed in a parentage testing case.Effects of long-term vitamin K (phylloquinone) intake on retina aging.Phenotypic characterization of P23H and S334ter rhodopsin transgenic rat models of inherited retinal degeneration.Progranulin increases phagocytosis by retinal pigment epithelial cells in culture.Association between Genetic Variations of MERTK and Chronic Obstructive Pulmonary Disease in Koreans.Phenotypic spectrum and extent of DNA methylation defects associated with multilocus imprinting disturbances.Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1.Interstitial 1q25.3-q31.3 deletion in a boy with mild manifestations.RPE phagocytic function declines in age-related macular degeneration and is rescued by human umbilical tissue derived cells.

P2860

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P2860

Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively

http://www.wikidata.org/entity/Q24633194

description

2002 nî lūn-bûn

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2002 թուականի Յունուարին հրատարակուած գիտական յօդուած

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2002 թվականի հունվարին հրատարակված գիտական հոդված

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2002年の論文

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2002年論文

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2002年論文

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2002年論文

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2002年論文

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2002年論文

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2002年论文

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Retinal dystrophy due to pater ...... n RPE65 or MERTK, respectively

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Retinal dystrophy due to pater ...... n RPE65 or MERTK, respectively

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Retinal dystrophy due to pater ...... n RPE65 or MERTK, respectively

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Retinal dystrophy due to pater ...... n RPE65 or MERTK, respectively

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Retinal dystrophy due to pater ...... n RPE65 or MERTK, respectively

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Retinal dystrophy due to pater ...... n RPE65 or MERTK, respectively

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Retinal dystrophy due to pater ...... n RPE65 or MERTK, respectively

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Retinal dystrophy due to pater ...... n RPE65 or MERTK, respectively

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Retinal dystrophy due to pater ...... n RPE65 or MERTK, respectively

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American Journal of Human Genetics

P1476

Retinal dystrophy due to pater ...... n RPE65 or MERTK, respectively

@en

P2093

Andreas Gal

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Christina L McHenry

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Debra A Thompson

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Douglas Vollrath

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Eberhard Schwinger

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Julia E Richards

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Mohammad I Othman

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Yun Li

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P2860

Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy

Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis

Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis

Mutation analysis of 3 genes in patients with Leber congenital amaurosis

Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa

Mechanisms leading to uniparental disomy and their clinical consequences

Mutation report: complete paternal uniparental isodisomy of chromosome 1: a novel mechanism for Herlitz junctional epidermolysis bullosa

Mutation of the receptor tyrosine kinase gene Mertk in the retinal dystrophic RCS rat

Mutations in RPE65 cause Leber's congenital amaurosis

Molecular cloning and expression of RPE65, a novel retinal pigment epithelium-specific microsomal protein that is post-transcriptionally regulated in vitro

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224-9

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10.1086/338455

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1

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70

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Samuel G. Jacobson

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2002-01-01T00:00:00Z

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11629052

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11727200

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384890

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