Laetitia Martinerie 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.

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Laetitia Martinerie Research Topics

Disease

4	Hypertension (High Blood Pressure) 01/2020 - 12/2009
3	Endocrine System Diseases (Endocrine Diseases) 03/2024 - 01/2019
3	Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 01/2020 - 01/2017
3	Congenital Adrenal Hyperplasia (Hyperplasia, Congenital Adrenal) 01/2020 - 01/2017
2	Turner Syndrome (Turner's Syndrome) 06/2024 - 01/2019
2	Cushing Syndrome 01/2024 - 01/2022
2	Hypercalcemia (Milk Alkali Syndrome) 01/2022 - 07/2014
2	Precocious Puberty 02/2021 - 01/2020
2	Anorchia 01/2021 - 01/2020
2	Virilism (Virilization) 01/2021 - 01/2018
2	46,XY Gonadal Dysgenesis (Swyer Syndrome) 01/2021 - 01/2020
2	Hyponatremia 09/2019 - 09/2009
1	Hypogonadism (Hypergonadotropic Hypogonadism) 06/2024
1	Glucocorticoid Receptor Deficiency 03/2024
1	Adenoma (Adenomas) 03/2024
1	Diabetes Insipidus 03/2024
1	Hypopituitarism (Sheehan's Syndrome) 03/2024
1	Rare Diseases (Rare Disease) 03/2024
1	Adrenal Insufficiency (Adrenal Gland Hypofunction) 01/2022
1	Primary Hyperparathyroidism 01/2022
1	Multiple Endocrine Neoplasia Type 1 01/2022
1	Hyperthyroidism 03/2021
1	Birth Weight (Birth Weights) 02/2021
1	Insulin Resistance 12/2020
1	Obesity 12/2020
1	Wasting Syndrome (Wasting Disease) 01/2020
1	Inborn Genetic Diseases (Disease, Hereditary) 01/2020
1	Heart Failure 09/2019
1	Inappropriate ADH Syndrome (SIADH) 09/2019
1	Acute Kidney Injury (Acute Renal Failure) 09/2019
1	Hypoaldosteronism (Hyporeninemic Hypoaldosteronism) 03/2018
1	Sotos Syndrome 07/2014
1	Infantile Hypercalcemia 07/2014
1	Renal Insufficiency (Renal Failure) 12/2009
1	Hyperkalemia 09/2009
1	Androgen-Insensitivity Syndrome (Testicular Feminization) 05/2009
1	Cardiovascular Diseases (Cardiovascular Disease) 11/2007

Drug/Important Bio-Agent (IBA)

5	Hydrocortisone (Cortisol)FDA LinkGeneric 03/2024 - 01/2020
5	MineralocorticoidsIBA 01/2020 - 11/2007
4	GlucocorticoidsIBA 01/2022 - 01/2012
3	Adrenocorticotropic Hormone (ACTH)FDA Link 03/2024 - 01/2020
3	AldosteroneIBA 01/2020 - 09/2009
2	Hormones (Hormone)IBA 06/2024 - 03/2024
2	SteroidsIBA 06/2024 - 01/2017
2	GonadotropinsIBA 06/2024 - 05/2009
2	6-chloro-2-(1-piperazinyl)pyrazine (CPP)IBA 02/2021 - 01/2020
2	Gonadotropin-Releasing Hormone (GnRH)FDA Link 01/2021 - 01/2020
2	RNA Helicases (RNA Helicase)IBA 01/2021 - 01/2020
2	SodiumIBA 03/2018 - 09/2009
1	Glucocorticoid Receptors (Glucocorticoid Receptor)IBA 03/2024
1	ProlactinIBA 03/2024
1	Follicle Stimulating Hormone (Follitropin)FDA Link 03/2024
1	Luteinizing Hormone (Lutropin)FDA LinkGeneric 03/2024
1	Anterior Pituitary HormonesIBA 03/2024
1	Growth Hormone (Somatotropin)IBA 03/2024
1	Thyrotropin (Thyroid-Stimulating Hormone)FDA Link 03/2024
1	Vasopressins (Vasopressin)IBA 03/2024
1	Cinacalcet (Sensipar)FDA Link 01/2022
1	Thyrotropin Receptors (Thyrotropin Receptor)IBA 03/2021
1	Insulin (Novolin)FDA Link 12/2020
1	Biomarkers (Surrogate Marker)IBA 12/2020
1	MicroRNAs (MicroRNA)IBA 12/2020
1	SaltsIBA 01/2020
1	FludrocortisoneIBA 01/2020
1	Adrenal Cortex Hormones (Corticosteroids)IBA 01/2020
1	Triptorelin Pamoate (Trelstar)FDA Link 01/2020
1	EnzymesIBA 01/2020
1	ElectrolytesIBA 09/2019
1	AndrogensIBA 01/2018
1	Steroid 21-Hydroxylase (21 Hydroxylase)IBA 01/2017
1	MineralsIBA 07/2014
1	Type 4 Fibroblast Growth Factor ReceptorIBA 07/2014
1	Fibroblast Growth Factors (Fibroblast Growth Factor)IBA 07/2014
1	Testosterone (Sustanon)FDA Link 05/2009

Therapy/Procedure

3	Therapeutics 06/2024 - 01/2020
1	Off-Label Use 01/2022
1	Precision Medicine 12/2020
1	Patient Transfer (Patient Dumping) 01/2019
1	Continuity of Patient Care 01/2019