Nuria Camats
Barcelona, CT 08035, Spain
Last Updated: 09/26/2026
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Found 24 publications
Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations.
Journal: PloS one
Published: February 13, 2023
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
Characterization of Two Novel Variants of the Steroidogenic Acute Regulatory Protein Identified in a Girl with Classic Lipoid Congenital Adrenal Hyperplasia.
Journal: International journal of molecular sciences
Published: July 30, 2020
Oligogenic Origin of Differences of Sex Development in Humans.
Journal: International journal of molecular sciences
Published: January 14, 2020
Molecular Basis of CYP19A1 Deficiency in a 46,XX Patient With R550W Mutation in POR: Expanding the PORD Phenotype.
Journal: The Journal of clinical endocrinology and metabolism
Published: September 07, 2019
Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease.
Journal: Frontiers in genetics
Published: March 21, 2019
A Novel Homozygous AMRH2 Gene Mutation in a Patient with Persistent Müllerian Duct Syndrome.
Journal: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation
Published: February 25, 2019
Mechanism of the Dual Activities of Human CYP17A1 and Binding to Anti-Prostate Cancer Drug Abiraterone Revealed by a Novel V366M Mutation Causing 17,20 Lyase Deficiency.
Journal: Pharmaceuticals (Basel, Switzerland)
Published: April 04, 2018
GATA4 Variants in Individuals With a 46,XY Disorder of Sex Development (DSD) May or May Not Be Associated With Cardiac Defects Depending on Second Hits in Other DSD Genes.
Journal: Frontiers in endocrinology
Published: December 21, 2017
Development of Laboratory Investigations in Disorders of Sex Development.
Journal: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation
Published: September 13, 2017
Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin?
Journal: European journal of human genetics : EJHG
Published: June 27, 2017
Last Updated: 09/26/2026