Associated Papers
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Serum steroid metabolite profiling by LC-MS/MS in two phenotypic male patients with HSD17B3 deficiency: Implications for hormonal diagnosis.
Fujisawa Y et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2023
Disorder of Sex Development Due to 17-Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency: A Case Report and Review of 70 Different HSD17B3 Mutations Reported in 239 Patients.
Gonçalves CI et al.
International Journal of Molecular Sciences, 2022
17β hydroxysteroid dehydrogenase 3 deficiency in 46,XY disorders of sex development: Our experience and a gender role-focused systematic review.
Krishnappa B et al.
Clinical Endocrinology, 2022
Deleterious variants in genes regulating mammalian reproduction in Neanderthals, Denisovans and extant humans.
Greer C et al.
Human Reproduction (oxford, England), 2021
Performance of mutation pathogenicity prediction tools on missense variants associated with 46,XY differences of sex development.
Montenegro LR et al.
Clinics (sao Paulo, Brazil), 2021
The genetic factors contributing to hypospadias and their clinical utility in its diagnosis.
Joodi M et al.
Journal of Cellular Physiology, 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
46,XY Disorder of Sex Development due to 17-Beta Hydroxysteroid Dehydrogenase Type 3 Deficiency in an Infant of Greek Origin.
Galli-Tsinopoulou A et al.
Journal of Clinical Research in Pediatric Endocrinology, 2018
46,XY disorder of sex development (DSD) due to 17β-hydroxysteroid dehydrogenase type 3 deficiency.
Mendonca BB et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2017
46,XY disorder of sex development due to 17-beta hydroxysteroid dehydrogenase type 3 deficiency: a plea for timely genetic testing.
Grimbly C et al.
International Journal of Pediatric Endocrinology, 2016
Clinical and molecular spectrum of patients with 17β-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) deficiency.
Castro CC et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2012
Genetic pathway of external genitalia formation and molecular etiology of hypospadias.
Kojima Y et al.
Journal of Pediatric Urology, 2010
The clinical and molecular heterogeneity of 17βHSD-3 enzyme deficiency.
George MM et al.
Hormone Research in Paediatrics, 2010
17beta-hydroxysteroid dehydrogenase 3 deficiency in a male pseudohermaphrodite.
Mains LM et al.
Fertility and Sterility, 2008
Clinical, endocrine, and molecular findings in 17beta-hydroxysteroid dehydrogenase type 3 deficiency.
Faienza MF et al.
Journal of Endocrinological Investigation, 2008
Phenotypic variability in 17beta-hydroxysteroid dehydrogenase-3 deficiency and diagnostic pitfalls.
Lee YS et al.
Clinical Endocrinology, 2007
17beta-hydroxysteroid dehydrogenase-3 deficiency: a rare endocrine cause of male-to-female sex reversal.
Bertelloni S et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2006
[17 beta hydroxysteroid dehydrogenase deficiency. Clinical, endocrinological and molecular features].
Bertelloni S et al.
Minerva Pediatrica, 2003
17beta-hydroxysteroid dehydrogenases: physiological roles in health and disease.
Moghrabi N et al.
Trends in Endocrinology and Metabolism: Tem, 1998