about
Use of model systems to understand the etiology of fragile X-associated primary ovarian insufficiency (FXPOI)L-acetylcarnitine for treating fragile X syndromeFolic acid for fragile X syndromeX-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation.Molecular testing for fragile X: analysis of 5062 tests from 1105 fragile X families--performed in 12 clinical laboratories in Spain.Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction.Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer casesGenetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers.Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes.3p14 De Novo Interstitial Microdeletion in a Patient with Intellectual Disability and Autistic Features with Language Impairment: A Comparison with Similar CasesAnalysis of FMR1 gene expression in female premutation carriers using robust segmented linear regression models.Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardationOvarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers.Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.Genome-wide linkage scan reveals three putative breast-cancer-susceptibility loci.Associated Clinical Disorders Diagnosed by Medical Specialists in 188 FMR1 Premutation Carriers Found in the Last 25 Years in the Spanish Basque Country: A Retrospective StudyInfectious and immunologic phenotype of MECP2 duplication syndrome.The average cumulative risks of breast and ovarian cancer for carriers of mutations in BRCA1 and BRCA2 attending genetic counseling units in Spain.Screening for large rearrangements of the BRCA2 gene in Spanish families with breast/ovarian cancer.Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.Detection of new pathogenic mutations in patients with congenital haemolytic anaemia using next-generation sequencing.Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him with CHARGE Syndrome.MECP2 gene study in a large cohort: testing of 240 female patients and 861 healthy controls (519 females and 342 males).Parity and the risk of breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers.Analysis of Lynch Syndrome Mismatch Repair Genes in Women with Endometrial Cancer.Screening for MECP2 mutations in Spanish patients with an unexplained mental retardation.Clinical implication of FMR1 intermediate alleles in a Spanish population.The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome.Differences in the frequency and distribution of BRCA1 and BRCA2 mutations in breast/ovarian cancer cases from the Basque country with respect to the Spanish population: implications for genetic counselling.Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancerAnalysis of FANCB and FANCN/PALB2 Fanconi Anemia genes in BRCA1/2-negative Spanish breast cancer familiesA novel nonsense homozygous variant in the NLGN1 gene found in a pair of monozygotic twin brothers with intellectual disability and autismCHEK2 1100delC is present in familial breast cancer cases of the Basque CountryScreening for female fragile X premutation and full mutation carriers. A commentary on the work of Wildhagen et AlLOH analysis should not be used as a tool to assess whether UVs of BRCA1/2 are pathogenic or notIs early onset breast cancer with no family history a good criterion for testing BRCA1 and BRCA2 genes? A small population-based studyA study on MSH2 and MLH1 mutations in hereditary nonpolyposis colorectal cancer families from the Basque Country, describing four new germline mutationsBRCA1 5272-1G>A and BRCA2 5374delTATG are founder mutations of high relevance for genetic counselling in breast/ovarian cancer families of Spanish originTrisomy 18p caused by a supernumerary marker with a chromosome 13/21 centromere: a possible recurrent chromosome aberration
P50
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P50
description
researcher
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wetenschapper
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հետազոտող
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name
Maria-Isabel Tejada
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Tejada MI
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Tejada MI
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Tejada MI
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Tejada MI
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type
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Maria-Isabel Tejada
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Tejada MI
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Tejada MI
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Tejada MI
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Tejada MI
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Tejada MI
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Maria-Isabel Tejada
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Tejada MI
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Tejada MI
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Tejada MI
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Tejada MI
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P106
P1153
21744145000
P31
P496
0000-0002-7334-1864