Maria D. Meseguer-Sarabia

El Palmar, MU, Spain

Last Updated: 09/26/2026

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Found 13 publications

Utility of Next-Generation Sequencing for the Genetic Study of MODY Diabetes.

Utility of Next-Generation Sequencing for the Genetic Study of MODY Diabetes.

Journal: The Journal of endocrinology

Published: September 15, 2025

Utility of next-generation sequencing for the genetic study of MODY diabetes.

Utility of next-generation sequencing for the genetic study of MODY diabetes.

Journal: The Journal of endocrinology

Published: September 15, 2025

Functional characterization of splice variants in hereditary breast and ovarian cancer susceptibility genes.

Functional characterization of splice variants in hereditary breast and ovarian cancer susceptibility genes.

Journal: Familial cancer

Published: August 10, 2025

Genetic testing for hereditary breast and ovarian cancer in the Murcian population using a comprehensive NGS panel.

Genetic testing for hereditary breast and ovarian cancer in the Murcian population using a comprehensive NGS panel.

Journal: Familial cancer

Published: March 26, 2025

Recurrent genetic variants and prioritization of variants of uncertain clinical significance associated with hereditary breast and ovarian cancer in families from the Region of Murcia.

Recurrent genetic variants and prioritization of variants of uncertain clinical significance associated with hereditary breast and ovarian cancer in families from the Region of Murcia.

Journal: Advances in laboratory medicine

Published: March 15, 2023

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Journal: Advances in laboratory medicine

Published: March 15, 2023

Next step in molecular genetics of hereditary breast/ovarian cancer: Multigene panel testing in clinical actionably genes and prioritization algorithms in the study of variants of uncertain significance.

Next step in molecular genetics of hereditary breast/ovarian cancer: Multigene panel testing in clinical actionably genes and prioritization algorithms in the study of variants of uncertain significance.

Journal: European journal of medical genetics

Published: March 26, 2021

New insights into the performance of multigene panel testing: Two novel nonsense variants in BRIP1 and TP53 in a young woman with breast cancer.

New insights into the performance of multigene panel testing: Two novel nonsense variants in BRIP1 and TP53 in a young woman with breast cancer.

Journal: Cancer genetics

Published: January 29, 2018

Familial pancreatic cancer asociated to germline mutation of BRCA2.

Familial pancreatic cancer asociated to germline mutation of BRCA2.

Journal: Medicina clinica

Published: May 25, 2017

Second trimester angiotensing-converting enzyme and uterine artery Doppler as predictors of preeclampsia in a high-risk population.

Second trimester angiotensing-converting enzyme and uterine artery Doppler as predictors of preeclampsia in a high-risk population.

Journal: Hypertension in pregnancy

Published: March 17, 2015

Novel BRCA1 deleterious mutation (c.1918C>T) in familial breast and ovarian cancer syndrome who share a common ancestry.

Novel BRCA1 deleterious mutation (c.1918C>T) in familial breast and ovarian cancer syndrome who share a common ancestry.

Journal: Familial cancer

Published: March 18, 2014

Placental growth factor, soluble fms-like tyrosine kinase 1 and progesterone as diagnostic biomarkers for ectopic pregnancy and missed abortion.

Placental growth factor, soluble fms-like tyrosine kinase 1 and progesterone as diagnostic biomarkers for ectopic pregnancy and missed abortion.

Journal: Clinical biochemistry

Published: December 01, 2013

Showing 1-12 of 13

Last Updated: 09/26/2026