Pages that link to "Q33918834"

The following pages link to Retinitis pigmentosa and allied conditions today: a paradigm of translational research (Q33918834):

Displaying 42 items.

• Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations (Q24336944) (← links)
• 267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation (Q28392698) (← links)
• Disruption of the retinitis pigmentosa 28 gene Fam161a in mice affects photoreceptor ciliary structure and leads to progressive retinal degeneration (Q28511973) (← links)
• An allele of microtubule-associated protein 1A (Mtap1a) reduces photoreceptor degeneration in Tulp1 and Tub Mutant Mice (Q28512652) (← links)
• Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan. (Q30389304) (← links)
• Diagnostic exome sequencing in 266 Dutch patients with visual impairment. (Q33707516) (← links)
• Nasal ciliary beat frequency and beat pattern in retinal ciliopathies (Q33939749) (← links)
• Ceramide kinase-like (CERKL) interacts with neuronal calcium sensor proteins in the retina in a cation-dependent manner (Q34296848) (← links)
• Infliximab reduces Zaprinast-induced retinal degeneration in cultures of porcine retina (Q34355478) (← links)
• Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis (Q34934291) (← links)
• Altered antioxidant-oxidant status in the aqueous humor and peripheral blood of patients with retinitis pigmentosa. (Q34999044) (← links)
• Clinical characteristics and current therapies for inherited retinal degenerations (Q35045067) (← links)
• Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II (Q35047344) (← links)
• Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT). (Q35693912) (← links)
• Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned. (Q35703002) (← links)
• An intronic deletion in the PROM1 gene leads to autosomal recessive cone-rod dystrophy (Q36366237) (← links)
• Identification of two mutations of the RHO gene in two Chinese families with retinitis pigmentosa: correlation between genotype and phenotype. (Q36499614) (← links)
• Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa (Q36501042) (← links)
• In silico analysis of a disease-causing mutation in PCDH15 gene in a consanguineous Pakistani family with Usher phenotype (Q36951185) (← links)
• Genetic heterogeneity and consanguinity lead to a "double hit": homozygous mutations of MYO7A and PDE6B in a patient with retinitis pigmentosa (Q37032819) (← links)
• Identification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis Pigmentosa (Q37335630) (← links)
• Two novel PRP31 premessenger ribonucleic acid processing factor 31 homolog mutations including a complex insertion-deletion identified in Chinese families with retinitis pigmentosa (Q37363942) (← links)
• The molecular basis of retinal dystrophies in pakistan. (Q37689840) (← links)
• Genetic and early life influences on the human retinal microcirculation (Q37948163) (← links)
• Gene-based therapies for dominantly inherited retinopathies (Q37956945) (← links)
• Melatonin delays photoreceptor degeneration in a mouse model of autosomal recessive retinitis pigmentosa (Q38744273) (← links)
• Whole exome sequencing identified a novel single base pair insertion mutation in the EYS gene in a six generation family with retinitis pigmentosa. (Q38832119) (← links)
• Structural and molecular bases of rod photoreceptor morphogenesis and disease. (Q38879791) (← links)
• Adalimumab Reduces Photoreceptor Cell Death in A Mouse Model of Retinal Degeneration. (Q41458186) (← links)
• PRPF3-Associated Autosomal Dominant Retinitis Pigmentosa and CYP4V2-Associated Bietti's Crystalline Corneoretinal Dystrophy Coexist in a Multigenerational Chinese Family. (Q41467813) (← links)
• Simple and complex retinal dystrophies are associated with profoundly different disease networks (Q41852634) (← links)
• An Update on the Genetics of Usher Syndrome (Q42028636) (← links)
• Genetic modifier loci of mouse Mfrp(rd6) identified by quantitative trait locus analysis (Q42138670) (← links)
• Further Insights into the Ciliary Gene and Protein KIZ and Its Murine Ortholog PLK1S1 Mutated in Rod-Cone Dystrophy. (Q42517252) (← links)
• Decoding retinitis pigmentosa (Q43148870) (← links)
• The genetic dissection of Myo7a gene expression in the retinas of BXD mice (Q49841493) (← links)
• Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families. (Q55322270) (← links)
• SAGE: a comprehensive resource of genetic variants integrating South Asian whole genomes and exomes (Q57929230) (← links)
• Sector Retinitis Pigmentosa caused by mutations of the RHO gene (Q58616244) (← links)
• Genetic and clinical findings of panel-based targeted exome sequencing in a northeast Chinese cohort with retinitis pigmentosa (Q89890490) (← links)
• Genetic spectrum of retinal dystrophies in Tunisia (Q97533179) (← links)
• Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies (Q101564121) (← links)