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Journal of Medical Genetics|August 17, 2025
First intragenic inversion of <i>CYP11B1</i> gene causing 11β-hydroxylase deficiency: a molecular diagnosis easily overlookedClément Janot, Kahina Mohammedi, Delphine Mallet, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|January 23, 2024
Neonatal salt wasting syndrome: Aldosterone synthase deficiency caused by a new splicing variant in CYP11B2Rémy Gerard, Clément Sauvestre, Pascal Barat, et al.
Annales D'Endocrinologie|April 18, 2018
News about the genetics of congenital primary adrenal insufficiencyFlorence Roucher-Boulez, Delphine Mallet-Motak, Véronique Tardy-Guidollet, et al.
The Journal of Clinical Endocrinology and Metabolism|January 27, 2005
Delayed diagnosis of congenital adrenal hyperplasia with salt wasting due to type II 3beta-hydroxysteroid dehydrogenase deficiencyTrine H Johannsen, Delphine Mallet, Harriet Dige-Petersen, et al.
The Journal of Clinical Endocrinology and Metabolism|September 8, 2016
P450 Oxidoreductase Deficiency: Loss of Activity Caused by Protein Instability From a Novel L374H MutationShaheena Parween, Florence Roucher-Boulez, Christa E Flück, et al.
Biochemical and Biophysical Research Communications|August 17, 2011
Deletion of P399_E401 in NADPH cytochrome P450 oxidoreductase results in partial mixed oxidase deficiencyChrista E Flück, Delphine Mallet, Gaby Hofer, et al.
Archives of Virology|August 12, 2019
Optimized nested PCR enhances biological diagnosis and phylogenetic analysis of human parvovirus B19 infectionsMaxime Pichon, Clément Labois, Véronique Tardy-Guidollet, et al.
The Journal of Urology|July 20, 2002
Endocrine screening in 32 consecutive patients with hypospadiasAxel Feyaerts, Maguelone G Forest, Yves Morel, et al.
Reproductive Biomedicine Online|December 14, 2019
In cases of familial primary ovarian insufficiency and disorders of gonadal development, consider NR5A1/SF-1 sequence variantsJuliette Bertrand-Delepine, Sylvie Manouvrier-Hanu, Maryse Cartigny, et al.
The Journal of Clinical Endocrinology and Metabolism|June 30, 2005
A novel mutation L260P of the steroidogenic acute regulatory protein gene in three unrelated patients of Swiss ancestry with congenital lipoid adrenal hyperplasiaChrista E Flück, Alexander Maret, Delphine Mallet, et al.
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