Maria-isabel I. Tejada

Barakaldo, PV, Spain

Last Updated: 09/26/2026

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Found 20 publications

Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes.

Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes.

Journal: The Lancet. Oncology

Published: July 17, 2022

RNA Analysis and Clinical Characterization of a Novel Splice Variant in the NSD1 Gene Causing Familial Sotos Syndrome.

RNA Analysis and Clinical Characterization of a Novel Splice Variant in the NSD1 Gene Causing Familial Sotos Syndrome.

Journal: Frontiers in pediatrics

Published: December 02, 2021

The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2).

The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2).

Journal: Human mutation

Published: November 13, 2020

Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability.

Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability.

Journal: Genes

Published: December 03, 2019

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

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

Journal: Clinical genetics

Published: August 27, 2018

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.

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.

Journal: Frontiers in genetics

Published: November 10, 2017

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.

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.

Journal: Genes

Published: June 29, 2016

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

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

Journal: Nature genetics

Published: May 30, 2016

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

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

Journal: International journal of laboratory hematology

Published: December 28, 2015

L-acetylcarnitine for treating fragile X syndrome.

L-acetylcarnitine for treating fragile X syndrome.

Journal: The Cochrane database of systematic reviews

Published: May 19, 2015

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

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

Journal: JAMA

Published: April 08, 2015

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

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

Journal: Human mutation

Published: March 25, 2015

Showing 1-12 of 20

Last Updated: 09/26/2026