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Genes associated with retinitis pigmentosa and allied diseases are frequently mutated in the general populationThe complete genome sequence of the gram-positive bacterium Bacillus subtilisFAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathiesThe zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathwaysMissense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing lossHundreds of variants clustered in genomic loci and biological pathways affect human heightEssential Bacillus subtilis genesLoss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's DiseaseEvaluation of the ELOVL4 gene in patients with autosomal recessive retinitis pigmentosa and Leber congenital amaurosisNovel frameshift mutations in CRX associated with Leber congenital amaurosisMutation screening of the peropsin gene, a retinal pigment epithelium specific rhodopsin homolog, in patients with retinitis pigmentosa and allied diseasesIsolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in UbiquitinationA Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical PracticeMutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia DefectsBarrier to autointegration factor interacts with the cone-rod homeobox and represses its transactivation function.EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay.UV light signature in conjunctival melanoma; not only skin should be protected from solar radiationUltra high throughput sequencing in human DNA variation detection: a comparative study on the NDUFA3-PRPF31 region.Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosaNetwork-guided analysis of genes with altered somatic copy number and gene expression reveals pathways commonly perturbed in metastatic melanoma.Novel approach identifies SNPs in SLC2A10 and KCNK9 with evidence for parent-of-origin effect on body mass index.Ultra high throughput sequencing excludes MDH1 as candidate gene for RP28-linked retinitis pigmentosaNonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosaRetinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns.Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A.Dominant PRPF31 mutations are hypostatic to a recessive CNOT3 polymorphism in retinitis pigmentosa: a novel phenomenon of "linked trans-acting epistasis".The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits.Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa.Molecular genetics of FAM161A in North American patients with early-onset retinitis pigmentosa.A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosaA new CRB1 rat mutation links Müller glial cells to retinal telangiectasia.Interactome analysis reveals that FAM161A, deficient in recessive retinitis pigmentosa, is a component of the Golgi-centrosomal network.Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies.Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome.Genomewide association study using a high-density single nucleotide polymorphism array and case-control design identifies a novel essential hypertension susceptibility locus in the promoter region of endothelial NO synthase.Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophyMutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia.
P50
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P50
description
hulumtues
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researcher
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wetenschapper
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հետազոտող
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name
Carlo Rivolta
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Carlo Rivolta
@en
Carlo Rivolta
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Carlo Rivolta
@nl
Carlo Rivolta
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type
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Carlo Rivolta
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Carlo Rivolta
@en
Carlo Rivolta
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Carlo Rivolta
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Carlo Rivolta
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prefLabel
Carlo Rivolta
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Carlo Rivolta
@en
Carlo Rivolta
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Carlo Rivolta
@nl
Carlo Rivolta
@sl
P106
P21
P31
P496
0000-0002-0733-9950