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Frontiers in Endocrinology|June 27, 2022
Genotype, Mortality, Morbidity, and Outcomes of 3β-Hydroxysteroid Dehydrogenase Deficiency in AlgeriaAsmahane Ladjouze, Malcolm Donaldson, Ingrid Plotton, et al.
Frontiers in Endocrinology|September 21, 2018
Aberrant Splicing Is the Pathogenicity Mechanism of the p.Glu314Lys Variant in <i>CYP11A1</i> GeneClaire Goursaud, Delphine Mallet, Alexandre Janin, et al.
Frontiers in Endocrinology|July 6, 2023
Case Report: Longitudinal follow-up and testicular sperm extraction in a patient with a pathogenic <i>NR5A1</i> (SF-1) frameshift variant: p.(Phe70Ser<i>fs</i>*5)Jordan Teoli, Delphine Mallet, Lucie Renault, et al.
American Journal of Medical Genetics. Part A|February 5, 2017
A novel disorder of sex development, characterized by progressive regression of testicular function and cystic leukoencephalopathyMassimiliano Rossi, Alexandre Vasiljevic, Audrey Labalme, et al.
The Journal of Clinical Endocrinology and Metabolism|November 6, 2008
CBP/p300-interacting transactivator, with Glu/Asp-rich C-terminal domain, 2, and pre-B-cell leukemia transcription factor 1 in human adrenal development and diseaseBruno Ferraz-de-Souza, Franziska Martin, Delphine Mallet, et al.
The Journal of Clinical Endocrinology and Metabolism|November 19, 2022
Steroid Profiling in the Amniotic Fluid: Reference Range for 12 Steroids and Interest in 21-Hydroxylase DeficiencyAnne Pourquet, Jordan Teoli, Aurore Bouty, et al.
Hormone Research in Paediatrics|May 27, 2020
Hypopituitarism in Patients with Blepharophimosis and FOXL2 MutationsSarah Castets, Florence Roucher-Boulez, Alexandru Saveanu, et al.
Frontiers in Endocrinology|April 18, 2022
Effect of Recombinant Gonadotropin on Testicular Function and Testicular Sperm Extraction in Five Cases of <i>NR0B1</i> (<i>DAX1</i>) Pathogenic VariantsJordan Teoli, Vincent Mezzarobba, Lucie Renault, et al.
European Journal of Medical Genetics|November 22, 2008
Craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis: probably a new syndromeValeria Capra, Patrizia De Marco, Elisa Merello, et al.
The Journal of Clinical Investigation|December 20, 2022
Loss of LGR4/GPR48 causes severe neonatal salt wasting due to disrupted WNT signaling altering adrenal zonationCécily Lucas, Kay-Sara Sauter, Michael Steigert, et al.
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