about
Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophthalmia and pituitary anomaliesOPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypesDiscovery and functional analysis of a retinitis pigmentosa gene, C2ORF71Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterationsRetinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCRMutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosaMutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosaIdentification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domainsHighly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequenceThe genetic basis of the Pierre Robin SequenceA new locus for autosomal recessive retinitis pigmentosa (RP19) maps to 1p13-1p21AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisisA Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical PracticeFunctional Characterization of Three Concomitant MtDNA LHON Mutations Shows No Synergistic Effect on Mitochondrial ActivityHypo- and hypermorphic FOXC1 mutations in dominant glaucoma: transactivation and phenotypic variability2017 update on the relationship between diabetes and colorectal cancer: epidemiology, potential molecular mechanisms and therapeutic implicationsNew mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophyCandidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onsetTAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease.CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion.Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset.Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.Description of a new family with cryopyrin-associated periodic syndrome: risk of visual loss in patients bearing the R260W mutation.Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population.Whole-Exome Sequencing of Congenital Glaucoma Patients Reveals Hypermorphic Variants in GPATCH3, a New Gene Involved in Ocular and Craniofacial Development.Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy.A prevalent mutation with founder effect in Spanish Recessive Dystrophic Epidermolysis Bullosa families.Molecular testing for fragile X: analysis of 5062 tests from 1105 fragile X families--performed in 12 clinical laboratories in Spain.Retinitis pigmentosa and allied conditions today: a paradigm of translational researchATA homozigosity in the IL-10 gene promoter is a risk factor for schizophrenia in Spanish females: a case control study.CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively.Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I.On the molecular pathology of neurodegeneration in IMPDH1-based retinitis pigmentosa.Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.Genomic cloning, structure, expression pattern, and chromosomal location of the human SIX3 gene.Informed consent for whole-genome sequencing studies in the clinical setting. Proposed recommendations on essential content and processAnalysis of the ABCA4 genomic locus in Stargardt disease.Targeted next generation sequencing for molecular diagnosis of Usher syndrome.
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description
hulumtuese
@sq
onderzoeker
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researcher
@en
հետազոտող
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name
Carmen Ayuso
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Carmen Ayuso
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Carmen Ayuso
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Carmen Ayuso
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Carmen Ayuso
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type
label
Carmen Ayuso
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Carmen Ayuso
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Carmen Ayuso
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Carmen Ayuso
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Carmen Ayuso
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Carmen Ayuso
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Carmen Ayuso
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Carmen Ayuso
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Carmen Ayuso
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Carmen Ayuso
@sl
P106
P1153
35236190100
P21
P31
P496
0000-0002-9242-7065