Kolexia
Mallet Guy Delphine
Pharmacien
Pharmacie Mallet-guy
Cognac-la-Forêt, France
35 Activités
0 Followers

Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Troubles du développement sexuel Hyperplasie Insuffisance surrénale Hyperplasie congénitale des surrénales Troubles du développement sexuel de sujets 46, XY Troubles du développement sexuel de sujets 46, XX Hypogonadisme Dysgénésie gonadique 46, XY Mort subite du nourrisson

Industries

B3TSI
6 collaboration(s)
Dernière en 2023
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Dernières activités

Neonatal salt wasting syndrome: Aldosterone synthase deficiency caused by a new splicing variant in CYP11B2.
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie   22 janvier 2024
Case Report: Longitudinal follow-up and testicular sperm extraction in a patient with a pathogenic (SF-1) frameshift variant: p.(Phe70Ser *5).
Frontiers in endocrinology   20 juin 2023
Steroid Profiling in the Amniotic Fluid: Reference Range for 12 Steroids and Interest in 21-Hydroxylase Deficiency.
The Journal of clinical endocrinology and metabolism   14 avril 2023
Loss of LGR4/GPR48 causes severe neonatal salt wasting due to disrupted WNT signaling altering adrenal zonation.
The Journal of clinical investigation   15 février 2023
Changes in the clinical management of 5α-reductase type 2 and 17β-hydroxysteroid dehydrogenase type 3 deficiencies in France.
Endocrine connections   14 février 2023
Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variants.
American journal of medical genetics. Part A   09 septembre 2022
Genotype, Mortality, Morbidity, and Outcomes of 3β-Hydroxysteroid Dehydrogenase Deficiency in Algeria.
Frontiers in endocrinology   10 juin 2022
Epileptic encephalopathy as a new feature of TSPYL1 variants, associated with sudden infant death with dysgenesis of the testes
Abstracts from the 54th European Society of Human Genetics (ESHG) Conference   01 avril 2022
Effect of Recombinant Gonadotropin on Testicular Function and Testicular Sperm Extraction in Five Cases of ( ) Pathogenic Variants.
Frontiers in endocrinology   30 mars 2022
Letter to the Editor: "Characterization of the CYP11A1 Nonsynonymous Variant p.E314K in Children Presenting With Adrenal Insufficiency".
The Journal of clinical endocrinology and metabolism   17 février 2020