about
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardationTAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological ManifestationsCopy-number gains of HUWE1 due to replication- and recombination-based rearrangementsChimeric Genes in Deletions and Duplications Associated with Intellectual DisabilityX-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation.Intragenic GNAS deletion involving exon A/B in pseudohypoparathyroidism type 1A resulting in an apparent loss of exon A/B methylation: potential for misdiagnosis of pseudohypoparathyroidism type 1BMolecular testing for fragile X: analysis of 5062 tests from 1105 fragile X families--performed in 12 clinical laboratories in Spain.X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome.A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.X-linked infantile spinal muscular atrophy: clinical definition and molecular mapping.Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes.A subtelomeric translocation apparently implied in multiple abortions.Tyrosinemia type 1 and Angelman syndrome due to paternal uniparental isodisomy 15.Duplication of the Williams-Beuren critical region: case report and further delineation of the phenotypic spectrumClinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature.Phenotype profiling of patients with intellectual disability and copy number variations.Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon.Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes.Infectious and immunologic phenotype of MECP2 duplication syndrome.In Pursuit of New Imprinting Syndromes by Epimutation Screening in Idiopathic Neurodevelopmental Disorder PatientsDe novo interstitial triplication of MECP2 in a girl with neurodevelopmental disorder and random X chromosome inactivation.Corpus 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 Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern.Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: demonstration that the mutation is involved in the inactivation bias.Intronic L1 insertion and F268S, novel mutations in RPS6KA3 (RSK2) causing Coffin-Lowry syndrome.MAGE-A1 expression is associated with good prognosis in neuroblastoma tumors.Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B.Founder haplotype associated with the factor VIII Asp1241Glu polymorphism in a cohort of mild hemophilia A patients.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.Identification of deletion carriers in hemophilia B: quantitative real-time polymerase chain reaction or multiple ligation probe amplification.Microphthalmia with linear skin defects syndrome.Haploinsufficiency of the MYT1L gene causes intellectual disability frequently associated with behavioral disorder.HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.Screening individuals with intellectual disability, autism and Tourette's syndrome for KCNK9 mutations and aberrant DNA methylation within the 8q24 imprinted cluster.X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells.[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.Prenatal diagnosis of a female fetus with ring chromosome 9, 46,XX,r(9)(p24q34), and a de novo interstitial 9p deletion.
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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
Francisco Martinez
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Francisco Martinez
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Francisco Martinez
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Francisco Martinez
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Francisco Martinez
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type
label
Francisco Martinez
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Francisco Martinez
@en
Francisco Martinez
@es
Francisco Martinez
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Francisco Martinez
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altLabel
Francisco Martinez Castellano
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prefLabel
Francisco Martinez
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Francisco Martinez
@en
Francisco Martinez
@es
Francisco Martinez
@nl
Francisco Martinez
@sl
P106
P1153
23094888200
P21
P31
P496
0000-0002-0589-2584