Associated Papers
Negative Selection Maintains Grossly Altered but Broadly Stable Karyotypes in Metastatic Colorectal Cancer.
Cross WCH et al.
Cancer Discovery, 2026
Overrepresentation of Germline Immune-Related Gene Variants in Patients with Acquired Bone Marrow Failure.
Pinc Z et al.
Journal of Clinical Immunology, 2025
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
Exome sequencing (ES) of a pediatric cohort with chronic endocrine diseases: a single-center study (within the framework of the TRANSLATE-NAMSE project).
Gippert S et al.
Endocrine, 2024
Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants.
Jiali C et al.
Frontiers in Genetics, 2024
Unexpectedly high mutation rate of cyp11b1 compared to cyp21a2 in randomly-selected turkish women: a large screening study.
Polat S et al.
Journal of Endocrinological Investigation, 2023
Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method.
Barretta F et al.
Genes, 2023
Identification of a novel candidate HSD3B2 gene variant for familial hypospadias by whole-exome sequencing.
Almaramhy HH et al.
Frontiers in Genetics, 2023
Identification of novel genes including NAV2 associated with isolated tall stature.
Weiss B et al.
Frontiers in Endocrinology, 2023
3β-Hydroxysteroid Dehydrogenase Type 2 (3βHSD2) Deficiency due to a Novel Compound Heterozygosity of a Missense Mutation (p.Thr259Met) and Frameshift Deletion (p.Lys273ArgFs*7) in an Undervirilized Infant Male with Salt Wasting.
Leka-Emiri S et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2022
Disorders of Sex Development in a Large Ukrainian Cohort: Clinical Diversity and Genetic Findings.
Globa E et al.
Frontiers in Endocrinology, 2022
Identification of neoantigen-reactive T lymphocytes in the peripheral blood of a patient with glioblastoma.
Leko V et al.
Journal for Immunotherapy of Cancer, 2021
Revisiting Classical 3β-hydroxysteroid Dehydrogenase 2 Deficiency: Lessons from 31 Pediatric Cases.
Guran T et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
Clinical perspectives in congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase type 2 deficiency.
Al Alawi AM et al.
Endocrine, 2019
Next generation sequencing (NGS) to improve the diagnosis and management of patients with disorders of sex development (DSD).
Hughes LA et al.
Endocrine Connections, 2019
Non-Virilizing Congenital Adrenal Hyperplasia in a Female Patient with a Novel HSD3B2 Mutation.
Probst-Scheidegger U et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2016
Structural modeling and in silico analysis of non-synonymous single nucleotide polymorphisms of human 3β-hydroxysteroid dehydrogenase type 2.
Goswami AM
Meta Gene, 2015
Molecular biology of the 3beta-hydroxysteroid dehydrogenase/delta5-delta4 isomerase gene family.
Simard J et al.
Endocrine Reviews, 2005
Candidate gene analysis in premature pubarche and adolescent hyperandrogenism.
Witchel SF et al.
Fertility and Sterility, 2001
A new insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency.
Simard J et al.
Endocrine Research, 2000
New insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency: identification of eight mutations in the HSD3B2 gene eleven patients from seven new families and comparison of the functional properties of twenty-five mutant enzymes.
Moisan AM et al.
The Journal of Clinical Endocrinology and Metabolism, 1999