Nancy L. Martinez-Hernandez

Mexico City, DIF 04530, Mexico

Last Updated: 09/26/2026

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Found 8 publications

Reassessing Benign ASXL1 Variants in Bohring-Opitz Syndrome: The Role of Population Databases in Variant Reinterpretation.

Reassessing Benign ASXL1 Variants in Bohring-Opitz Syndrome: The Role of Population Databases in Variant Reinterpretation.

Journal: Genes

Published: January 23, 2026

Identifying Early Metabolic Risks of Obesity in Mexican Children and Adolescents from a Semi-Rural Community in Mexico: Beyond BMI and into Biochemical and Nutritional Markers.

Identifying Early Metabolic Risks of Obesity in Mexican Children and Adolescents from a Semi-Rural Community in Mexico: Beyond BMI and into Biochemical and Nutritional Markers.

Journal: Nutrients

Published: June 03, 2025

Uncommon Large and Bilateral Fibrous Cephalic Plaques in a Patient with TSC2-Related Tuberous Sclerosis Complex.

Uncommon Large and Bilateral Fibrous Cephalic Plaques in a Patient with TSC2-Related Tuberous Sclerosis Complex.

Journal: Children (Basel, Switzerland)

Published: July 21, 2023

Clinical, pathological, and molecular correlation of folliculocystic and collagen hamartoma: A new potential diagnostic criterion for tuberous sclerosis complex?

Clinical, pathological, and molecular correlation of folliculocystic and collagen hamartoma: A new potential diagnostic criterion for tuberous sclerosis complex?

Journal: Journal of cutaneous pathology

Published: April 11, 2022

Further Evidence That Defects in Main Thyroid Dysgenesis-Related Genes Are an Uncommon Etiology for Primary Congenital Hypothyroidism in Mexican Patients: Report of Rare Variants in FOXE1, NKX2-5 and TSHR.

Further Evidence That Defects in Main Thyroid Dysgenesis-Related Genes Are an Uncommon Etiology for Primary Congenital Hypothyroidism in Mexican Patients: Report of Rare Variants in FOXE1, NKX2-5 and TSHR.

Journal: Children (Basel, Switzerland)

Published: April 16, 2021

First comprehensive TSC1/TSC2 mutational analysis in Mexican patients with Tuberous Sclerosis Complex reveals numerous novel pathogenic variants.

First comprehensive TSC1/TSC2 mutational analysis in Mexican patients with Tuberous Sclerosis Complex reveals numerous novel pathogenic variants.

Journal: Scientific reports

Published: December 17, 2019

Molecular characterization of Axenfeld-Rieger spectrum and other anterior segment dysgeneses in a sample of Mexican patients.

Molecular characterization of Axenfeld-Rieger spectrum and other anterior segment dysgeneses in a sample of Mexican patients.

Journal: Ophthalmic genetics

Published: November 21, 2018

TSC2/PKD1 contiguous gene syndrome, with emphasis on a case with an atypical mild polycystic kidney phenotype and a novel genetic variant.

TSC2/PKD1 contiguous gene syndrome, with emphasis on a case with an atypical mild polycystic kidney phenotype and a novel genetic variant.

Journal: Nefrologia

Published: August 10, 2018

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Last Updated: 09/26/2026