Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family. - Wikidata - awgldk - TriplyDB

Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family.

Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family.

http://www.wikidata.org/entity/Q30497400

about

Restoration of vision in the pde6β-deficient dog, a large animal model of rod-cone dystrophy Localization and expression of clarin-1, the Clrn1 gene product, in auditory hair cells and photoreceptors The divergence, actions, roles, and relatives of sodium-coupled bicarbonate transporters Ablation of whirlin long isoform disrupts the USH2 protein complex and causes vision and hearing loss.A profile of transcriptomic changes in the rd10 mouse model of retinitis pigmentosa.Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree Current understanding of usher syndrome type II.The Time Course of Deafness and Retinal Degeneration in a Kunming Mouse Model for Usher Syndrome.Genetic heterogeneity and consanguinity lead to a "double hit": homozygous mutations of MYO7A and PDE6B in a patient with retinitis pigmentosa.Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Novel mutations in PDE6B causing human retinitis pigmentosa Genetic variation in phosphodiesterase (PDE) 7B in chronic lymphocytic leukemia: overview of genetic variants of cyclic nucleotide PDEs in human disease.The very large G protein coupled receptor (Vlgr1) in hair cells.Comorbidity in the Tunisian population.Next-generation sequencing revealed a novel mutation in the gene encoding the beta subunit of rod phosphodiesterase.Identifying mutations in Tunisian families with retinal dystrophy Novel compound heterozygous mutations in the GPR98 (USH2C) gene identified by whole exome sequencing in a Moroccan deaf family.Mouse Models of SLC4-linked Disorders of HCO3- Transporter Dysfunction.An Update on Phosphodiesterase Mutations Underlying Genetic Etiology of Hearing Loss and Retinitis Pigmentosa.A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome.Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities.A novel mutation of the USH2C (GPR98) gene in an Iranian family with Usher syndrome type II.Reduced rod electroretinograms in carrier parents of two Japanese siblings with autosomal recessive retinitis pigmentosa associated with PDE6B gene mutations.Genetics and genomic medicine in Tunisia.A novel homozygous variant of GPR98 causes usher syndrome type IIC in a consanguineous Chinese family by next generation sequencing.

P2860

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P2860

Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family.

http://www.wikidata.org/entity/Q30497400

description

2008 nî lūn-bûn

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2008 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

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2008 թվականի հոտեմբերին հրատարակված գիտական հոդված

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2008年の論文

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2008年論文

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2008年論文

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2008年論文

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2008年論文

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2008年論文

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2008年论文

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name

Identification of two new muta ...... regating in a Tunisian family.

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Identification of two new muta ...... regating in a Tunisian family.

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Identification of two new muta ...... regating in a Tunisian family.

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Identification of two new muta ...... regating in a Tunisian family.

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Identification of two new muta ...... regating in a Tunisian family.

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Identification of two new muta ...... regating in a Tunisian family.

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P1433

European Journal of Human Genetics

P1476

Identification of two new muta ...... regating in a Tunisian family.

@en

P2093

Abdelmonem Ghorbel

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Ahmed Rebaï

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Amber Shahzadi

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Fareeha Zulfiqar

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Hammadi Ayadi

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Houria Dhouib

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Mounira Hmani-Aifa

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Peter Söderkvist

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Sheikh Riazuddin

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William J Kimberling

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P2860

A mutation (2314delG) in the Usher syndrome type IIA gene: high prevalence and phenotypic variation

Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II

A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures

A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss

Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss

Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus

Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III

Fanconi anaemia

Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation

Strategies for multilocus linkage analysis in humans

P2888

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474-482

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10.1038/EJHG.2008.167

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4

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17

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