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List of works by Maria-Isabel Tejada

3p14 De Novo Interstitial Microdeletion in a Patient with Intellectual Disability and Autistic Features with Language Impairment: A Comparison with Similar Cases

scientific article published on 14 May 2015

A further prenatal diagnosis of mosaic tetrasomy 12p (Pallister-Killian syndrome)

scientific article published on June 1, 1992

A novel nonsense homozygous variant in the NLGN1 gene found in a pair of monozygotic twin brothers with intellectual disability and autism

article

A study on MSH2 and MLH1 mutations in hereditary nonpolyposis colorectal cancer families from the Basque Country, describing four new germline mutations

scientific article published on 01 January 2009

Analysis of FANCB and FANCN/PALB2 Fanconi Anemia genes in BRCA1/2-negative Spanish breast cancer families

article

Analysis of FMR1 gene expression in female premutation carriers using robust segmented linear regression models.

scientific article published on May 2007

Analysis of Lynch Syndrome Mismatch Repair Genes in Women with Endometrial Cancer.

scientific article published on 12 July 2016

Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases

scientific article

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 Study

scientific article published on 21 October 2016

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

scientific article

BRCA1 5272-1G>A and BRCA2 5374delTATG are founder mutations of high relevance for genetic counselling in breast/ovarian cancer families of Spanish origin

scientific article published on 02 November 2009

Breast and ovarian cancer risk evaluation in families with a disease-causing mutation in BRCA1/2

scientific article published on August 9, 2010

CHEK2 1100delC is present in familial breast cancer cases of the Basque Country

scientific article published on 25 October 2006

Clinical implication of FMR1 intermediate alleles in a Spanish population.

scientific article published on 31 March 2018

Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction

scientific article

Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer

Detection of new pathogenic mutations in patients with congenital haemolytic anaemia using next-generation sequencing.

scientific article

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.

scientific article published on 30 January 2007

Folic acid for fragile X syndrome

scientific article (publication date: 11 May 2011)

Folic acid for fragile X syndrome

scientific article

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.

scientific article published on 26 January 2018

Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers

scientific article

Genome-wide linkage scan reveals three putative breast-cancer-susceptibility loci

scientific article published on 15 January 2009

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

scientific article published on 23 October 2017

Infectious and immunologic phenotype of MECP2 duplication syndrome

scientific article published on 27 February 2015

Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes.

scientific article

Is early onset breast cancer with no family history a good criterion for testing BRCA1 and BRCA2 genes? A small population-based study

scientific article published on 23 March 2009

L-acetylcarnitine for fragile X syndrome

scientific article

L-acetylcarnitine for treating fragile X syndrome

scientific article

LOH analysis should not be used as a tool to assess whether UVs of BRCA1/2 are pathogenic or not

scientific article published on 01 September 2010

MECP2 gene study in a large cohort: testing of 240 female patients and 861 healthy controls (519 females and 342 males).

scientific article published on 26 June 2013

Molecular characterization of Spanish patients with MECP2 duplication syndrome

scientific article published on 23 February 2020

Molecular testing for fragile X: analysis of 5062 tests from 1105 fragile X families--performed in 12 clinical laboratories in Spain

scientific article

Non-syndromic X linked intellectual disability: Current knowledge in light of the recent advances in molecular and functional studies

scientific article published on 02 January 2020

Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers

scientific article

Parity and the risk of breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers

scientific article published on 16 April 2009

Screening for MECP2 mutations in Spanish patients with an unexplained mental retardation.

scientific article published in August 2006

Screening for female fragile X premutation and full mutation carriers. A commentary on the work of Wildhagen et Al

scientific article published on 01 January 1999

Screening for large rearrangements of the BRCA2 gene in Spanish families with breast/ovarian cancer.

scientific article published on 25 October 2006

Systematic review of pharmacological treatments in fragile X syndrome

scientific article

Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

scientific article published on 9 September 2015

The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome

scientific article published on 8 April 2016

The average cumulative risks of breast and ovarian cancer for carriers of mutations in BRCA1 and BRCA2 attending genetic counseling units in Spain

scientific article published in May 2008

Trisomy 18p caused by a supernumerary marker with a chromosome 13/21 centromere: a possible recurrent chromosome aberration

scientific article published on 25 July 2013

Use of model systems to understand the etiology of fragile X-associated primary ovarian insufficiency (FXPOI)

scientific article

X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation.

scientific article

Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation

scientific article