MARÍA ISABEL TEJADA MÍNGUEZ-rekin lankidetzan egindako argitalpenak (18)

2020

  1. Hereditary Spastic Paraplegia and Intellectual Disability: Clinicogenetic Lessons From a Family Suggesting a Dual Genetics Diagnosis

    Frontiers in Neurology, Vol. 11

2019

  1. Molecular and clinical characterization of a novel nonsense variant in exon 1 of the upf3b gene found in a large spanish basque family (Mrx82)

    Frontiers in Genetics, Vol. 10, Núm. OCT

2010

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

    Clinical Genetics, Vol. 77, Núm. 1, pp. 60-69

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

    Journal of Community Genetics, Vol. 1, Núm. 2, pp. 91-99

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

    Familial Cancer

2009

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

    Familial Cancer, Vol. 8, Núm. 4, pp. 533-539

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

    Clinical Genetics

  3. Risk of cognitive impairment in female Premutation carriers of fragile X premutation: Analysis by means of robust segmented linear regression models

    American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, Vol. 150, Núm. 2, pp. 262-270

2008

  1. Analysis of the molecular parameters that could predict the risk of manifesting premature ovarian failure in female premutation carriers of fragile X syndrome

    Menopause, Vol. 15, Núm. 5, pp. 945-949

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

    Clinical Cancer Research, Vol. 14, Núm. 9, pp. 2861-2869

2007

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

    RNA, Vol. 13, Núm. 5, pp. 756-762

  2. CHEK2 1100delC is present in familial breast cancer cases of the Basque Country [2]

    Breast Cancer Research and Treatment

  3. 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

    Breast Cancer Research and Treatment, Vol. 106, Núm. 2, pp. 255-262

  4. High proportion of large genomic rearrangements in hMSH2 in hereditary nonpolyposis colorectal cancer (HNPCC) families of the Basque Country

    Cancer Letters, Vol. 255, Núm. 2, pp. 295-299

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

    Breast Cancer Research and Treatment, Vol. 103, Núm. 1, pp. 103-107

2006

  1. Chequeo de mutaciones en el gen BRCA1 en mujeres con cáncer de mama familiar y esporádico precoz, de la Comunidad Autónoma Vasca.

    Gaceta médica de Bilbao: Revista oficial de la Academia de Ciencias Médicas de Bilbao. Información para profesionales sanitarios, Vol. 103, Núm. 1, pp. 9-12

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

    Clinical Genetics, Vol. 70, Núm. 2, pp. 140-144

2005

  1. Gene symbol: MECP2. Disease: Rett syndrome (atypical).

    Human genetics, Vol. 118, Núm. 3-4, pp. 547