Pages that link to "Q37083413"

The following pages link to Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosa (Q37083413):

Displaying 36 items.

• Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy (Q24568378) (← links)
• Retinal dystrophies, genomic applications in diagnosis and prospects for therapy (Q26770321) (← links)
• The role of primary cilia in the development and disease of the retina (Q26822720) (← links)
• Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population. (Q27324715) (← links)
• retinitis pigmentosa with or without situs inversus (Q27677817) (← links)
• Whole-exome sequencing identifies OR2W3 mutation as a cause of autosomal dominant retinitis pigmentosa (Q30415926) (← links)
• Genetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencing (Q33790443) (← links)
• Whole exome sequencing reveals genetic predisposition in a large family with retinitis pigmentosa (Q33914788) (← links)
• Developments in Ocular Genetics: 2013 Annual Review (Q33991982) (← links)
• New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11. (Q34307307) (← links)
• Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel (Q34976923) (← links)
• Non-viral therapeutic approaches to ocular diseases: An overview and future directions (Q36425890) (← links)
• A novel IGH@ gene rearrangement associated with CDKN2A/B deletion in young adult B-cell acute lymphoblastic leukemia (Q36640716) (← links)
• Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases (Q36989961) (← links)
• Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases (Q37101463) (← links)
• Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations (Q37378356) (← links)
• Higher order signaling: ARL2 as regulator of both mitochondrial fusion and microtubule dynamics allows integration of 2 essential cell functions (Q37457334) (← links)
• Genetic basis of human left-right asymmetry disorders (Q38563680) (← links)
• The Interaction of CCDC104/BARTL1 with Arl3 and Implications for Ciliary Function (Q38828900) (← links)
• OR2W3 sequence variants are unlikely to cause inherited retinal diseases (Q39987061) (← links)
• The Function of Arf-like Proteins ARL2 and ARL3 in Photoreceptors. (Q40477428) (← links)
• Arl3 and RP2 regulate the trafficking of ciliary tip kinesins (Q50025735) (← links)
• A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome (Q50425483) (← links)
• Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario. (Q53155688) (← links)
• ARL2BP, a protein linked to Retinitis Pigmentosa, is needed for normal photoreceptor cilia doublets and outer segment structure. (Q53826878) (← links)
• ARL2BP mutations account for 0.1% of autosomal recessive rod-cone dystrophies with the report of a novel splice variant. (Q54154010) (← links)
• Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra-ocular features. (Q54310386) (← links)
• Actin-dependent regulation of cilia length by the inverted formin FHDC1 (Q56724715) (← links)
• The progression of the ClinGen gene clinical validity classification over time (Q57455599) (← links)
• Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa (Q58775456) (← links)
• Novel homozygous splicing mutations in cause autosomal recessive retinitis pigmentosa (Q58780671) (← links)
• ADP-Ribosylation Factor-Like 2 (ARL2) regulates cilia stability and development of outer segments in rod photoreceptor neurons (Q59330365) (← links)
• Functional Genomics of the Retina to Elucidate its Construction and Deconstruction (Q90567439) (← links)
• Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice (Q92697785) (← links)
• A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC) (Q92917866) (← links)
• The genetics of rod-cone dystrophy in Arab countries: a systematic review (Q102059052) (← links)