Nekane Ibarluzea

Madrid, MD, Spain

Last Updated: 09/26/2026

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Found 10 publications

Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.

Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.

Journal: American journal of medical genetics. Part A

Published: May 05, 2022

Effect of AGG Interruptions on FMR1 Maternal Transmissions.

Effect of AGG Interruptions on FMR1 Maternal Transmissions.

Journal: Frontiers in molecular biosciences

Published: April 28, 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

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

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

Journal: Frontiers in neurology

Published: October 24, 2019

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

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

Journal: Clinical genetics

Published: October 23, 2019

Molecular and Clinical Characterization of a Novel Nonsense Variant in Exon 1 of the UPF3B Gene Found in a Large Spanish Basque Family (MRX82).

Molecular and Clinical Characterization of a Novel Nonsense Variant in Exon 1 of the UPF3B Gene Found in a Large Spanish Basque Family (MRX82).

Journal: Frontiers in genetics

Published: July 24, 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

Androgen-dependent alternative mRNA isoform expression in prostate cancer cells.

Androgen-dependent alternative mRNA isoform expression in prostate cancer cells.

Journal: F1000Research

Published: July 30, 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

Showing 1-10 of 10

Last Updated: 09/26/2026