Joelle Bignon-Topalovic Selected Research

46,XY Gonadal Dysgenesis (Swyer Syndrome)

1/2021	Expanding DSD Phenotypes Associated with Variants in the DEAH-Box RNA Helicase DHX37.
1/2020	Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome.
1/2019	The TALE homeodomain of PBX1 is involved in human primary testis-determination.

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Joelle Bignon-Topalovic Research Topics

Disease

3	46,XY Gonadal Dysgenesis (Swyer Syndrome) 01/2021 - 01/2019
2	Anorchia 01/2021 - 01/2020
2	Hypogonadism (Hypergonadotropic Hypogonadism) 01/2021 - 01/2020
1	Atrophy 01/2020
1	Synostosis 01/2019
1	Virilism (Virilization) 01/2018
1	Hypoglycemia (Reactive Hypoglycemia) 01/2017
1	Hearing Loss (Hearing Impairment) 01/2017
1	Cryptorchidism (Undescended Testes) 01/2017
1	Penis agenesis 01/2017
1	46,XY Disorder of Sex Development (Male Pseudohermaphroditism) 11/2016
1	Ovotesticular Disorders of Sex Development 01/2016
1	Amenorrhea 01/2016
1	Neoplasms (Cancer) 05/2015
1	Male Infertility (Male Sterility) 10/2010

Drug/Important Bio-Agent (IBA)

2	RNA Helicases (RNA Helicase)IBA 01/2021 - 01/2020
2	Transcription Factors (Transcription Factor)IBA 01/2019 - 01/2016
2	AndrogensIBA 01/2018 - 11/2016
1	Semaphorin-3AIBA 01/2021
1	Kisspeptin-1 ReceptorsIBA 01/2020
1	Pre-B-Cell Leukemia Transcription Factor 1IBA 01/2019
1	Hormones (Hormone)IBA 01/2017
1	Cysteine (L-Cysteine)FDA Link 01/2017
1	FurinIBA 01/2017
1	Nonsense Codon (Nonsense Mutation)IBA 01/2016
1	LH Receptors (LH Receptor)IBA 01/2016
1	Steroidogenic Factor 1IBA 10/2010

Therapy/Procedure

1	Castration 05/2015