Monica Cancio-Fernandez

Madrid, MD 28029, Spain

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 40 publications

Genetic and Functional Studies of Patients with Thyroid Dyshormonogenesis and Defects in the TSH Receptor (TSHR).

Genetic and Functional Studies of Patients with Thyroid Dyshormonogenesis and Defects in the TSH Receptor (TSHR).

Journal: International journal of molecular sciences

Published: August 31, 2024

Patients with Thyroid Dyshormonogenesis and DUOX2 Variants: Molecular and Clinical Description and Genotype-Phenotype Correlation.

Patients with Thyroid Dyshormonogenesis and DUOX2 Variants: Molecular and Clinical Description and Genotype-Phenotype Correlation.

Journal: International journal of molecular sciences

Published: July 05, 2024

Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel RPGR Variant and Possible Modifier Gene.

Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel RPGR Variant and Possible Modifier Gene.

Journal: Cells

Published: February 02, 2024

Clinical and molecular study of patients with thyroid dyshormogenesis and variants in the thyroglobulin gene.

Clinical and molecular study of patients with thyroid dyshormogenesis and variants in the thyroglobulin gene.

Journal: Frontiers in endocrinology

Published: January 09, 2024

Genetics and Natural History of Non-pancreatectomized Patients With Congenital Hyperinsulinism Due to Variants in ABCC8.

Genetics and Natural History of Non-pancreatectomized Patients With Congenital Hyperinsulinism Due to Variants in ABCC8.

Journal: The Journal of clinical endocrinology and metabolism

Published: December 16, 2022

Five-alpha-reductase type 2 deficiency in Spain.

Five-alpha-reductase type 2 deficiency in Spain.

Journal: Endocrinologia, diabetes y nutricion

Published: July 27, 2022

Novel variant in HHAT as a cause of different sex development with partial gonadal dysgenesis associated with microcephaly, eye defects, and distal phalangeal hypoplasia of both thumbs: Case report.

Novel variant in HHAT as a cause of different sex development with partial gonadal dysgenesis associated with microcephaly, eye defects, and distal phalangeal hypoplasia of both thumbs: Case report.

Journal: Frontiers in endocrinology

Published: May 31, 2022

Incidence and Prevalence of Children's Diffuse Lung Disease in Spain.

Incidence and Prevalence of Children's Diffuse Lung Disease in Spain.

Journal: Archivos de bronconeumologia

Published: March 23, 2021

Immunofluorescence Analysis as a Diagnostic Tool in a Spanish Cohort of Patients with Suspected Primary Ciliary Dyskinesia.

Immunofluorescence Analysis as a Diagnostic Tool in a Spanish Cohort of Patients with Suspected Primary Ciliary Dyskinesia.

Journal: Journal of clinical medicine

Published: October 20, 2020

Phenotypic Variability of Patients With PAX8 Variants Presenting With Congenital Hypothyroidism and Eutopic Thyroid.

Phenotypic Variability of Patients With PAX8 Variants Presenting With Congenital Hypothyroidism and Eutopic Thyroid.

Journal: The Journal of clinical endocrinology and metabolism

Published: July 31, 2020

Seventy eight children born small for gestational age without catch-up growth treated with growth hormone from the prepubertal stage until adult height age. An evaluation of puberty and changes in the metabolic profile.

Seventy eight children born small for gestational age without catch-up growth treated with growth hormone from the prepubertal stage until adult height age. An evaluation of puberty and changes in the metabolic profile.

Journal: Endocrinologia, diabetes y nutricion

Published: July 19, 2020

Implementation of a Gene Panel for Genetic Diagnosis of Primary Ciliary Dyskinesia.

Implementation of a Gene Panel for Genetic Diagnosis of Primary Ciliary Dyskinesia.

Journal: Archivos de bronconeumologia

Published: January 12, 2020

Showing 1-12 of 40

Last Updated: 09/26/2026