All Stories

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

    Article • Clinical Genetics, November 2018, Wiley

    Maria-Isabel Tejada

  2. Clinical implication of FMR1 intermediate alleles in a Spanish population

    Article • Clinical Genetics, June 2018, Wiley

    Maria-Isabel Tejada

  3. 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

    Article • Frontiers in Genetics, January 2018, Frontiers

    Maria-Isabel Tejada

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

    Article • Nature Genetics, October 2017, Springer Science + Business Media

    Maria-Isabel Tejada, Professor Lin Fritschi

  5. 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

    Article • Genes, October 2016, MDPI AG

    Maria-Isabel Tejada

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

    Article • International Journal of Laboratory Hematology, July 2016, Wiley

    Dr Teresa Fidalgo, Maria-Isabel Tejada

  7. TheMECP2variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome

    Article • Clinical Genetics, April 2016, Wiley

    Maria-Isabel Tejada

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

    Article • Oncology, January 2016, Karger Publishers

    Maria-Isabel Tejada

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

    Article • Human Mutation, September 2015, Wiley

    Maria-Isabel Tejada, Dr Corrado Romano

  10. L-acetylcarnitine for treating fragile X syndrome

    Article • Cochrane Database of Systematic Reviews, May 2015, Wiley

    Maria-Isabel Tejada

  11. Association of Type and Location of BRCA1 and BRCA2 Mutations With Risk of Breast and Ovarian Cancer

    Article • JAMA, April 2015, American Medical Association (AMA)

    Maria-Isabel Tejada

  12. Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome

    Article • Journal of Clinical Immunology, February 2015, Springer Science + Business Media

    Maria-Isabel Tejada

  13. Identification of six new susceptibility loci for invasive epithelial ovarian cancer

    Article • Nature Genetics, January 2015, Springer Science + Business Media

    Maria-Isabel Tejada

  14. 3p14 De Novo Interstitial Microdeletion in a Patient with Intellectual Disability and Autistic Features with Language Impairment: A Comparison with Similar Cases

    Article • Case Reports in Genetics, January 2015, Hindawi Publishing Corporation

    Maria-Isabel Tejada

  15. Guía clínica de las enfermedades asociadas al gen FMR1: síndrome X frágil, insuficiencia ovárica primaria y síndrome de temblor-ataxia

    Article • Medicina Clínica, March 2014, Elsevier

    Maria-Isabel Tejada

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

    Article • Journal of Neurodevelopmental Disorders, January 2014, Springer Science + Business Media

    Dr Renate K Hukema, Maria-Isabel Tejada

  17. Molecular Testing for Fragile X: Analysis of 5062 Tests from 1105 Fragile X Families—Performed in 12 Clinical Laboratories in Spain

    Article • BioMed Research International, January 2014, Hindawi Publishing Corporation

    Maria-Isabel Tejada

  18. MECP2 Gene Study in a Large Cohort

    Article • Journal of Molecular Diagnostics, September 2013, Elsevier

    Maria-Isabel Tejada

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

    Article • American Journal of Medical Genetics Part A, July 2013, Wiley

    Maria-Isabel Tejada

  20. Analysis of PALB2 Gene in BRCA1/BRCA2 Negative Spanish Hereditary Breast/Ovarian Cancer Families with Pancreatic Cancer Cases

    Article • PLoS ONE, July 2013, PLOS

    Maria-Isabel Tejada

  21. CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain

    Article • BMC Medical Genetics, August 2012, Springer Science + Business Media

    Maria-Isabel Tejada

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

    Article • European Journal of Medical Genetics, June 2012, Elsevier

    Maria-Isabel Tejada

  23. Common Variants at the 19p13.1 and ZNF365 Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

    Article • Cancer Epidemiology Biomarkers & Prevention, February 2012, American Association for Cancer Research (AACR)

    Maria-Isabel Tejada

  24. Ovarian cancer susceptibility alleles and risk of ovarian cancer inBRCA1andBRCA2mutation carriers

    Article • Human Mutation, February 2012, Wiley

    Maria-Isabel Tejada

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

    Article • Breast Cancer Research and Treatment, November 2011, Springer Science + Business Media

    Maria-Isabel Tejada

  26. A Child With Mild X-Linked Intellectual Disability and a Microduplication at Xp22.12 Including RPS6KA3

    Article • PEDIATRICS, September 2011, American Academy of Pediatrics (AAP)

    Maria-Isabel Tejada

  27. Folic acid for fragile X syndrome

    Article • Cochrane Database of Systematic Reviews, May 2011, Wiley

    Maria-Isabel Tejada

  28. Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes

    Article • European Journal of Human Genetics, March 2011, Springer Science + Business Media

    Maria-Isabel Tejada

  29. Genetic Variation at 9p22.2 and Ovarian Cancer Risk for BRCA1 and BRCA2 Mutation Carriers

    Article • JNCI Journal of the National Cancer Institute, December 2010, Oxford University Press (OUP)

    Maria-Isabel Tejada

  30. Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction

    Article • Cancer Research, November 2010, American Association for Cancer Research (AACR)

    Maria-Isabel Tejada

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

    Article • Journal of Community Genetics, June 2010, Springer Science + Business Media

    Maria-Isabel Tejada

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

    Article • Familial Cancer, January 2010, Springer Science + Business Media

    Maria-Isabel Tejada

  33. BRCA15272-1G>A andBRCA25374delTATG are founder mutations of high relevance for genetic counselling in breast/ovarian cancer families of Spanish origin

    Article • Clinical Genetics, January 2010, Wiley

    Maria-Isabel Tejada

  34. Systematic review of pharmacological treatments in fragile X syndrome

    Article • BMC Neurology, October 2009, Springer Science + Business Media

    Maria-Isabel Tejada

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

    Article • Familial Cancer, September 2009, Springer Science + Business Media

    Maria-Isabel Tejada

  36. Is early onset breast cancer with no family history a good criterion for testingBRCA1andBRCA2genes? A small population-based study

    Article • Clinical Genetics, June 2009, Wiley

    Maria-Isabel Tejada

  37. A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

    Article • Nature Genetics, April 2009, Springer Science + Business Media

    Maria-Isabel Tejada

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

    Article • Breast Cancer Research and Treatment, April 2009, Springer Science + Business Media

    Maria-Isabel Tejada

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

    Article • American Journal of Medical Genetics Part B Neuropsychiatric Genetics, March 2009, Wiley

    Maria-Isabel Tejada

  40. Genome-wide Linkage Scan Reveals Three Putative Breast-Cancer-Susceptibility Loci

    Article • The American Journal of Human Genetics, February 2009, Elsevier

    Maria-Isabel Tejada

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

    Article • Menopause, September 2008, Wolters Kluwer Health

    Maria-Isabel Tejada

  42. The Average Cumulative Risks of Breast and Ovarian Cancer for Carriers of Mutations in BRCA1 and BRCA2 Attending Genetic Counseling Units in Spain

    Article • Clinical Cancer Research, May 2008, American Association for Cancer Research (AACR)

    Maria-Isabel Tejada

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

    Article • Breast Cancer Research and Treatment, February 2008, Springer Science + Business Media

    Maria-Isabel Tejada

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

    Article • Cancer Letters, October 2007, Elsevier

    Maria-Isabel Tejada

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

    Article • RNA, May 2007, Cold Spring Harbor Laboratory Press

    Maria-Isabel Tejada

  46. 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

    Article • Breast Cancer Research and Treatment, January 2007, Springer Science + Business Media

    Maria-Isabel Tejada

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

    Article • BMC Genomics, January 2007, Springer Science + Business Media

    Maria-Isabel Tejada

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

    Article • Breast Cancer Research and Treatment, October 2006, Springer Science + Business Media

    Maria-Isabel Tejada

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

    Article • Breast Cancer Research and Treatment, October 2006, Springer Science + Business Media

    Maria-Isabel Tejada

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

    Article • Clinical Genetics, July 2006, Wiley

    Maria-Isabel Tejada

  51. Screening for Female Fragile X Premutation and Full Mutation Carriers

    Article • Public Health Genomics, January 1999, Karger Publishers

    Maria-Isabel Tejada

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

    Article • Prenatal Diagnosis, June 1992, Wiley

    Maria-Isabel Tejada

  53. Factors associated with premature chromosome condensation (PCC) following In Vitro Fertilization

    Article • Journal of Assisted Reproduction and Genetics, February 1992, Springer Science + Business Media

    Maria-Isabel Tejada