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Page 1
Pathogenic variants in the human m6A reader YTHDC2 are associated with primary ovarian insufficiency.
McGlacken-Byrne SM, Del Valle I, Quesne Stabej PL, Bellutti L, Garcia-Alonso L, Ocaka LA, Ishida M, Suntharalingham JP, Gagunashvili A, Ogunbiyi OK, Mistry T, Buonocore F; GOSgene; Crespo B, Moreno N, Niola P, Brooks T, Brain CE, Dattani MT, Kelberman D, Vento-Tormo R, Lagos CF, Livera G, Conway GS, Achermann JC. McGlacken-Byrne SM, et al. Among authors: conway gs. JCI Insight. 2022 Mar 8;7(5):e154671. doi: 10.1172/jci.insight.154671. JCI Insight. 2022. PMID: 35138268 Free PMC article.
Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function.
Lin L, Philibert P, Ferraz-de-Souza B, Kelberman D, Homfray T, Albanese A, Molini V, Sebire NJ, Einaudi S, Conway GS, Hughes IA, Jameson JL, Sultan C, Dattani MT, Achermann JC. Lin L, et al. Among authors: conway gs. J Clin Endocrinol Metab. 2007 Mar;92(3):991-9. doi: 10.1210/jc.2006-1672. Epub 2007 Jan 2. J Clin Endocrinol Metab. 2007. PMID: 17200175 Free PMC article.
STAG3 truncating variant as the cause of primary ovarian insufficiency.
Le Quesne Stabej P, Williams HJ, James C, Tekman M, Stanescu HC, Kleta R, Ocaka L, Lescai F, Storr HL, Bitner-Glindzicz M, Bacchelli C, Conway GS; GOSgene. Le Quesne Stabej P, et al. Among authors: conway gs. Eur J Hum Genet. 2016 Jan;24(1):135-8. doi: 10.1038/ejhg.2015.107. Epub 2015 Jun 10. Eur J Hum Genet. 2016. PMID: 26059840 Free PMC article.
Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome.
McElreavey K, Jorgensen A, Eozenou C, Merel T, Bignon-Topalovic J, Tan DS, Houzelstein D, Buonocore F, Warr N, Kay RGG, Peycelon M, Siffroi JP, Mazen I, Achermann JC, Shcherbak Y, Leger J, Sallai A, Carel JC, Martinerie L, Le Ru R, Conway GS, Mignot B, Van Maldergem L, Bertalan R, Globa E, Brauner R, Jauch R, Nef S, Greenfield A, Bashamboo A. McElreavey K, et al. Among authors: conway gs. Genet Med. 2020 Jan;22(1):150-159. doi: 10.1038/s41436-019-0606-y. Epub 2019 Jul 24. Genet Med. 2020. PMID: 31337883 Free PMC article.
Next-Generation Sequencing Reveals Novel Genetic Variants (SRY, DMRT1, NR5A1, DHH, DHX37) in Adults With 46,XY DSD.
Buonocore F, Clifford-Mobley O, King TFJ, Striglioni N, Man E, Suntharalingham JP, Del Valle I, Lin L, Lagos CF, Rumsby G, Conway GS, Achermann JC. Buonocore F, et al. Among authors: conway gs. J Endocr Soc. 2019 Oct 10;3(12):2341-2360. doi: 10.1210/js.2019-00306. eCollection 2019 Dec 1. J Endocr Soc. 2019. PMID: 31745530 Free PMC article.
ZSWIM7 Is Associated With Human Female Meiosis and Familial Primary Ovarian Insufficiency.
McGlacken-Byrne SM, Le Quesne Stabej P, Del Valle I, Ocaka L, Gagunashvili A, Crespo B, Moreno N, James C, Bacchelli C, Dattani MT, Williams HJ, Kelberman D, Achermann JC, Conway GS. McGlacken-Byrne SM, et al. Among authors: conway gs. J Clin Endocrinol Metab. 2022 Jan 1;107(1):e254-e263. doi: 10.1210/clinem/dgab597. J Clin Endocrinol Metab. 2022. PMID: 34402903 Free PMC article.
Premature ovarian insufficiency.
McGlacken-Byrne SM, Conway GS. McGlacken-Byrne SM, et al. Among authors: conway gs. Best Pract Res Clin Obstet Gynaecol. 2022 May;81:98-110. doi: 10.1016/j.bpobgyn.2021.09.011. Epub 2021 Nov 16. Best Pract Res Clin Obstet Gynaecol. 2022. PMID: 34924261 Review.
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: conway gs. Nat Commun. 2024 Mar 30;15(1):2796. doi: 10.1038/s41467-024-47162-2. Nat Commun. 2024. PMID: 38555298 Free PMC article.
221 results