Hiart Maortua

Plaza De Cruces S/N. 48903, Bizkaia
Barakaldo, PV 48903, Spain

Last Updated: 09/26/2026

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Found 11 publications

Germline heterozygous exons 8-11 pathogenic BARD1 gene deletion reported for the first time in a family with suspicion of a hereditary colorectal cancer syndrome: more than an incidental finding?

Germline heterozygous exons 8-11 pathogenic BARD1 gene deletion reported for the first time in a family with suspicion of a hereditary colorectal cancer syndrome: more than an incidental finding?

Journal: Hereditary cancer in clinical practice

Published: October 21, 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

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

Molecular characterization of Spanish patients with MECP2 duplication syndrome.

Molecular characterization of Spanish patients with MECP2 duplication syndrome.

Journal: Clinical genetics

Published: October 24, 2019

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

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

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

Journal: Oncology

Published: January 24, 2016

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

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

Journal: Clinical genetics

Published: January 04, 2016

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

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

Journal: Case reports in genetics

Published: October 10, 2014

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

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

Journal: BioMed research international

Published: February 23, 2014

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

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

Journal: The Journal of molecular diagnostics : JMD

Published: December 09, 2012

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

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

Journal: BMC medical genetics

Published: March 02, 2012

Showing 1-11 of 11

Last Updated: 09/26/2026