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Mutation screening of USH3 gene (clarin-1) in Spanish patients with Usher syndrome: low prevalence and phenotypic variabilityTAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological ManifestationsChimeric Genes in Deletions and Duplications Associated with Intellectual DisabilityGenetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments.A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.Tyrosinemia type 1 and Angelman syndrome due to paternal uniparental isodisomy 15.Phenotype profiling of patients with intellectual disability and copy number variations.Standardisation of operating procedures for the detection of minimal disease by QRT-PCR in children with neuroblastoma: quality assurance on behalf of SIOPEN-R-NET.Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes.In Pursuit of New Imprinting Syndromes by Epimutation Screening in Idiopathic Neurodevelopmental Disorder PatientsCorpus callosum abnormalities and the controversy about the candidate genes located in 1q44.Submicroscopic duplication of the Wolf-Hirschhorn critical region with a 4p terminal deletion.Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II.Large deletion in the Factor VIII gene (F8) involving segmental duplications in int22h shows no haematological phenotype in female carriers, but may be embryonic lethal in males.Haploinsufficiency of the MYT1L gene causes intellectual disability frequently associated with behavioral disorder.[Chromosomal location of submicroscopic duplications in patients with neurodevelopmental disorders to identify cases with high risk of familial recurrence].Recombinant X chromosome in a prenatal diagnosis.Duplication of the Williams-Beuren critical region: case report and further delineation of the phenotypic spectrum.Prevalence of germline MUTYH mutations among Lynch-like syndrome patients.De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome.Detection of known and novel genomic rearrangements by array based comparative genomic hybridisation: deletion of ZNF533 and duplication of CHARGE syndrome genes.Duplication of 14q11.2 associates with short stature and mild mental retardation: a putative relation with quantitative trait loci.Evaluation of MLPA for the detection of cryptic subtelomeric rearrangements.Localization of MRX82: a new nonsyndromic X-linked mental retardation locus to Xq24-q25 in a Basque family.Screening for microdeletions of the X-chromosome in non-specific mental retardation.High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing.A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome.Minimal disease detection in peripheral blood and bone marrow from patients with non-metastatic neuroblastoma.Aberrant methylation of tumor suppressor genes in patients with refractory anemia with ring sideroblasts.Epigenetic alterations in disseminated neuroblastoma tumour cells: influence of TMS1 gene hypermethylation in relapse risk in NB patients.Mutation screening of AURKB and SYCP3 in patients with reproductive problems.Subtelomeric analysis of pediatric astrocytoma: subchromosomal instability is a distinctive feature of pleomorphic xanthoastrocytoma.Pure duplication of 19p13.3 in three members of a family with intellectual disability and literature review. Definition of a new microduplication syndromeDuplication at Xq13.3-q21.1 with syndromic intellectual disability, a probable role for theATRXgeneHypomethylation of the KCNQ1OT1 imprinting center of chromosome 11 associated to Sotos-like featuresHypermethylation of apoptotic genes as independent prognostic factor in neuroblastoma diseasePartial Duplication of 18q Including a Distal Critical Region for Edwards Syndrome in a Patient with Normal Phenotype and Oligoasthenospermia: Case ReportPrenatal study of common submicroscopic “genomic disorders” using MLPA with subtelomeric/microdeletion syndrome probe mixes, among gestations with ultrasound abnormalities in the first trimesterAutosomal-dominant hypohidrotic ectodermal dysplasia caused by a novel mutation
P50
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P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Silvestre Oltra
@ast
Silvestre Oltra
@en
Silvestre Oltra
@es
Silvestre Oltra
@nl
Silvestre Oltra
@sl
type
label
Silvestre Oltra
@ast
Silvestre Oltra
@en
Silvestre Oltra
@es
Silvestre Oltra
@nl
Silvestre Oltra
@sl
prefLabel
Silvestre Oltra
@ast
Silvestre Oltra
@en
Silvestre Oltra
@es
Silvestre Oltra
@nl
Silvestre Oltra
@sl
P1053
A-2697-2009
P106
P31
P3829
P496
0000-0001-6863-4382