about
Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophyMutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsiaMutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophyAn siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genesSalmonella induces prominent gene expression in the rat colonHomozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations.Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT).Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia.Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypesPrenylation defects in inherited retinal diseases.Causes and consequences of inherited cone disorders.A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290.Clinical Utility Gene Card for: autosomal recessive cone-rod dystrophy.The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase.Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography.Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome.Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia.Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy.Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.Genetic etiology and clinical consequences of complete and incomplete achromatopsia.A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder.Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes.Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy.Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy.Heterozygous Deep-Intronic Variants and Deletions inABCA4in Persons with Retinal Dystrophies and One ExonicABCA4VariantMutations of theCEP290gene encoding a centrosomal protein cause Meckel-Gruber syndromeIdentification of splice defects due to noncanonical splice site or deep-intronic variants in ABCA4The identification of a RNA splice variant in TULP1 in two siblings with early-onset photoreceptor dystrophy
P50
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P50
description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Susanne Roosing
@ast
Susanne Roosing
@en
Susanne Roosing
@es
Susanne Roosing
@nl
Susanne Roosing
@sl
type
label
Susanne Roosing
@ast
Susanne Roosing
@en
Susanne Roosing
@es
Susanne Roosing
@nl
Susanne Roosing
@sl
prefLabel
Susanne Roosing
@ast
Susanne Roosing
@en
Susanne Roosing
@es
Susanne Roosing
@nl
Susanne Roosing
@sl
P106
P21
P31
P496
0000-0001-9038-0067