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Page 1
News about the genetics of congenital primary adrenal insufficiency.
Roucher-Boulez F, Mallet-Motak D, Tardy-Guidollet V, Menassa R, Goursaud C, Plotton I, Morel Y. Roucher-Boulez F, et al. Among authors: goursaud c. Ann Endocrinol (Paris). 2018 Jun;79(3):174-181. doi: 10.1016/j.ando.2018.03.016. Epub 2018 Apr 13. Ann Endocrinol (Paris). 2018. PMID: 29661472 Review.
Atypical Presentation of Testicular Adrenal Rest Tumor (TART) Leading to Bilateral Partial Orchiectomy in a 31-Year-Old Adult Revealing Primary Adrenal Insufficiency with CYP11A1 Deficiency.
Garcia C, Dusaud M, Chiron P, Sollier M, Nassouri S, Groussin L, Sibony M, Goursaud C, Roucher-Boulez F, Bordier L. Garcia C, et al. Among authors: goursaud c. Case Rep Endocrinol. 2021 Dec 23;2021:5889007. doi: 10.1155/2021/5889007. eCollection 2021. Case Rep Endocrinol. 2021. PMID: 34976419 Free PMC article.
Familial juvenile hyperuricemic nephropathy: Revisiting the SLC8A1 gene, in a family with a novel terminal gross deletion in the UMOD gene.
Gonçalves F, Lisboa-Gonçalves P, Quental R, Fernandes S, Quental S, Michel-Calemard L, Goursaud C, Marques S, Santos J, Tavares I, Oliveira JP. Gonçalves F, et al. Among authors: goursaud c. Nefrologia (Engl Ed). 2024 Jul-Aug;44(4):576-581. doi: 10.1016/j.nefroe.2024.08.002. Nefrologia (Engl Ed). 2024. PMID: 39216982 Free article.
Targeted RNAseq from patients' urinary cells to validate pathogenic noncoding variants in autosomal dominant polycystic kidney disease genes: a proof of concept.
Dorval G, Le Gac G, Morinière V, Ka C, Goursaud C, Knebelmann B, Marijon P, Nambot S, Cagnard N, Nitschké P, Michel-Calemard L, Audrézet MP, Heidet L. Dorval G, et al. Among authors: goursaud c. Kidney Int. 2024 Sep;106(3):532-535. doi: 10.1016/j.kint.2024.05.029. Epub 2024 Jun 27. Kidney Int. 2024. PMID: 38944240 No abstract available.