Condition: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE


rs121918288 in BEST1 gene and BESTROPHINOPATHY, AUTOSOMAL RECESSIVE PMID 19853238 2009 Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa.

PMID 26200502 2015 Autosomal Recessive Bestrophinopathy Is Not Associated With the Loss of Bestrophin-1 Anion Channel Function in a Patient With a Novel BEST1 Mutation.

PMID 22234150 2012 Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies).

PMID 26720466 2015 A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy.

PMID 21330666 2011 Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy.

PMID 18179881 2008 Biallelic mutation of BEST1 causes a distinct retinopathy in humans.

rs121918284 in BEST1;LOC107984334 gene and BESTROPHINOPATHY, AUTOSOMAL RECESSIVE PMID 26720466 2015 A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy.

PMID 18179881 2008 Biallelic mutation of BEST1 causes a distinct retinopathy in humans.

PMID 21330666 2011 Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy.

PMID 22234150 2012 Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies).

PMID 26200502 2015 The combination of Best1 and Best1 R141H does not cause disease, while Best1 R141H together with Best1 I366fsX18 causes ARB.

PMID 19853238 2009 Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa.

PMID 26333019 2016 Two novel combinations of missense mutations in the BEST1 gene were identified: p.R141H/p.M325T in three patients with ARB in two unrelated Norwegian families, and p.R141H/p.I201T was found in an ARB patient in a Swedish family.

PMID 22422030 2012 A novel compound heterozygous mutation in the BEST1 gene causes autosomal recessive Best vitelliform macular dystrophy.

PMID 10798642 2000 Allelic variation in the VMD2 gene in best disease and age-related macular degeneration.

PMID 26200502 2015 Autosomal Recessive Bestrophinopathy Is Not Associated With the Loss of Bestrophin-1 Anion Channel Function in a Patient With a Novel BEST1 Mutation.

rs121918287 in BEST1;LOC107984334;FTH1 gene and BESTROPHINOPATHY, AUTOSOMAL RECESSIVE PMID 19853238 2009 Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa.

PMID 26200502 2015 Autosomal Recessive Bestrophinopathy Is Not Associated With the Loss of Bestrophin-1 Anion Channel Function in a Patient With a Novel BEST1 Mutation.

PMID 18179881 2008 Biallelic mutation of BEST1 causes a distinct retinopathy in humans.

PMID 26720466 2015 A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy.

PMID 21330666 2011 Two ARB-associated mutants (p.D312N and p.V317M) that were not trafficked correctly nor targeted to the proteasome had a distinctive appearance, possibly indicative of aggresome or aggresome-like inclusion bodies.

rs398124615 in CRB1 gene and BESTROPHINOPATHY, AUTOSOMAL RECESSIVE PMID 28181551 2017 Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies.

PMID 28819299 2017 The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes.

PMID 23379534 2013 High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population.

PMID 27258436 2016 Biallelic Mutations in CRB1 Underlie Autosomal Recessive Familial Foveal Retinoschisis.

rs752521456 in FTH1;BEST1 gene and BESTROPHINOPATHY, AUTOSOMAL RECESSIVE PMID 19375515 2009 The spectrum of ocular phenotypes caused by mutations in the BEST1 gene.

rs200277476 in LOC107984334;BEST1 gene and BESTROPHINOPATHY, AUTOSOMAL RECESSIVE PMID 10788642 2000 Cortical image density determines the probability of target discovery during active search.

PMID 21273940 2011 Autosomal recessive vitelliform macular dystrophy in a large cohort of vitelliform macular dystrophy patients.

PMID 21330666 2011 Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy.

PMID 26720466 2015 A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy.

PMID 18179881 2008 Biallelic mutation of BEST1 causes a distinct retinopathy in humans.

PMID 26200502 2015 Autosomal Recessive Bestrophinopathy Is Not Associated With the Loss of Bestrophin-1 Anion Channel Function in a Patient With a Novel BEST1 Mutation.

PMID 21330666 2011 Two ARB-associated mutants (p.D312N and p.V317M) that were not trafficked correctly nor targeted to the proteasome had a distinctive appearance, possibly indicative of aggresome or aggresome-like inclusion bodies.

PMID 19853238 2009 Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa.