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A conserved NR5A1-responsive enhancer regulates SRY in testis-determination.
Houzelstein D, Eozenou C, Lagos CF, Elzaiat M, Bignon-Topalovic J, Gonzalez I, Laville V, Schlick L, Wankanit S, Madon P, Kirtane J, Athalye A, Buonocore F, Bigou S, Conway GS, Bohl D, Achermann JC, Bashamboo A, McElreavey K. Houzelstein D, et al. Among authors: achermann jc. Nat Commun. 2024 Mar 30;15(1):2796. doi: 10.1038/s41467-024-47162-2. Nat Commun. 2024. PMID: 38555298 Free PMC article.
Analysis of genetic variability in Turner syndrome linked to long-term clinical features.
Suntharalingham JP, Ishida M, Cameron-Pimblett A, McGlacken-Byrne SM, Buonocore F, Del Valle I, Madhan GK, Brooks T, Conway GS, Achermann JC. Suntharalingham JP, et al. Among authors: achermann jc. Front Endocrinol (Lausanne). 2023 Sep 20;14:1227164. doi: 10.3389/fendo.2023.1227164. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37800145 Free PMC article.
An integrated single-cell analysis of human adrenal cortex development.
Del Valle I, Young MD, Kildisiute G, Ogunbiyi OK, Buonocore F, Simcock IC, Khabirova E, Crespo B, Moreno N, Brooks T, Niola P, Swarbrick K, Suntharalingham JP, McGlacken-Byrne SM, Arthurs OJ, Behjati S, Achermann JC. Del Valle I, et al. Among authors: achermann jc. JCI Insight. 2023 Jul 24;8(14):e168177. doi: 10.1172/jci.insight.168177. JCI Insight. 2023. PMID: 37440461 Free PMC article.
A Single-Center, Observational Study of 607 Children and Young People Presenting With Differences of Sex Development (DSD).
Man E, Mushtaq I, Barnicoat A, Carmichael P, Hughes CR, Davies K, Aitkenhead H, Amin R, Buchanan CR, Cherian A, Costa NJ, Creighton SM, Duffy PG, Hewson E, Hindmarsh PC, Monzani LC, Peters CJ, Ransley PG, Smeulders N, Spoudeas HA, Wood D, Hughes IA, Katugampola H, Brain CE, Dattani MT, Achermann JC. Man E, et al. Among authors: achermann jc. J Endocr Soc. 2022 Oct 28;7(1):bvac165. doi: 10.1210/jendso/bvac165. eCollection 2022 Nov 17. J Endocr Soc. 2022. PMID: 36419940 Free PMC article.
Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome.
Suntharalingham JP, Ishida M, Del Valle I, Stalman SE, Solanky N, Wakeling E, Moore GE, Achermann JC, Buonocore F. Suntharalingham JP, et al. Among authors: achermann jc. Front Endocrinol (Lausanne). 2022 Aug 18;13:953707. doi: 10.3389/fendo.2022.953707. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 36060959 Free PMC article.
Management of a Girl With Delayed Puberty and Elevated Gonadotropins.
McGlacken-Byrne SM, Achermann JC, Conway GS. McGlacken-Byrne SM, et al. Among authors: achermann jc. J Endocr Soc. 2022 Jul 8;6(9):bvac108. doi: 10.1210/jendso/bvac108. eCollection 2022 Sep 1. J Endocr Soc. 2022. PMID: 35935072 Free PMC article.
A retrospective analysis of endocrine disease in sphingosine-1-phosphate lyase insufficiency: case series and literature review.
Maharaj A, Kwong R, Williams J, Smith C, Storr H, Krone R, Braslavsky D, Clemente M, Ram N, Banerjee I, Çetinkaya S, Buonocore F, Güran T, Achermann JC, Metherell L, Prasad R. Maharaj A, et al. Among authors: achermann jc. Endocr Connect. 2022 Jul 25;11(8):e220250. doi: 10.1530/EC-22-0250. Print 2022 Aug 1. Endocr Connect. 2022. PMID: 35904228 Free PMC article. Review.
133 results