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Page 1
Predictors of surgical complications in boys with hypospadias: data from an internationa registry.
Scougall K, Bryce J, Baronio F, Boal RL, Castera JR, Castro S, Cheetham T, Costa EC, Darendeliler F, Davies JH, Dirlewanger M, Gazdagh G, Globa E, Guerra-Junior G, Guran T, Herrmann G, Holterhus PM, Akgül AK, Markosyan R, McElreavey K, Miranda ML, Nordenstrom A, O'Toole S, Poyrazoglu S, Russo G, Schwitzgebel V, Stancampiano M, Steigert M, Ahmed SF, Lucas-Herald AK. Scougall K, et al. Among authors: mcelreavey k. World J Pediatr Surg. 2023 Oct 11;6(4):e000599. doi: 10.1136/wjps-2023-000599. eCollection 2023. World J Pediatr Surg. 2023. PMID: 37860275 Free PMC article.
Multi-stakeholder opinion statement on the care of individuals born with differences of sex development: common ground and opportunities for improvement.
Cools M, Cheng EY, Hall J, Alderson J, Amies Oelschlager AM, Balen AH, Chan YM, Geffner ME, Gravholt CH, Güran T, Hoebeke P, Lee P, Magritte E, Matos D, McElreavey K, Meyer-Bahlburg HFL, Rink RC, Springer A, Szymanski KM, Vilain E, Williams J, Wolffenbuttel KP, Sandberg DE, Subramaniam R. Cools M, et al. Among authors: mcelreavey k. Horm Res Paediatr. 2024 Feb 2. doi: 10.1159/000536296. Online ahead of print. Horm Res Paediatr. 2024. PMID: 38310850 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: mcelreavey k. Nat Commun. 2024 Mar 30;15(1):2796. doi: 10.1038/s41467-024-47162-2. Nat Commun. 2024. PMID: 38555298 Free PMC article.
Contributions of common genetic variants to constitutional delay of puberty and idiopathic hypogonadotropic hypogonadism.
Lippincott MF, Schafer EC, Hindman AA, He W, Brauner R, Delaney A, Grinspon R, Hall JE, Hirschhorn JN, McElreavey K, Palmert MR, Rey R, Seminara SB, Salem RM, Chan YM; Delayed Puberty Genetics Consortium. Lippincott MF, et al. Among authors: mcelreavey k. J Clin Endocrinol Metab. 2024 Mar 13:dgae166. doi: 10.1210/clinem/dgae166. Online ahead of print. J Clin Endocrinol Metab. 2024. PMID: 38477512
Familial central precocious puberty due to DLK1 deficiency: novel genetic findings and relevance of serum DLK1 levels.
Montenegro L, Seraphim C, Tinano F, Piovesan M, Canton APM, McElreavey K, Brabant S, Boris NP, Magnuson M, Carroll RS, Kaiser UB, Argente J, Barrios V, Brito VN, Brauner R, Latronico AC. Montenegro L, et al. Among authors: mcelreavey k. Eur J Endocrinol. 2023 Sep 1;189(3):422-428. doi: 10.1093/ejendo/lvad129. Eur J Endocrinol. 2023. PMID: 37703313
Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty.
Duckett K, Williamson A, Kincaid JWR, Rainbow K, Corbin LJ, Martin HC, Eberhardt RY, Huang QQ, Hurles ME, He W, Brauner R, Delaney A, Dunkel L, Grinspon RP, Hall JE, Hirschhorn JN, Howard SR, Latronico AC, Jorge AAL, McElreavey K, Mericq V, Merino PM, Palmert MR, Plummer L, Rey RA, Rezende RC, Seminara SB, Salnikov K, Banerjee I, Lam BYH, Perry JRB, Timpson NJ, Clayton P, Chan YM, Ong KK, O'Rahilly S. Duckett K, et al. Among authors: mcelreavey k. J Clin Endocrinol Metab. 2023 Nov 17;108(12):e1580-e1587. doi: 10.1210/clinem/dgad373. J Clin Endocrinol Metab. 2023. PMID: 37339320 Free PMC article.
Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.
Ayers KL, Eggers S, Rollo BN, Smith KR, Davidson NM, Siddall NA, Zhao L, Bowles J, Weiss K, Zanni G, Burglen L, Ben-Shachar S, Rosensaft J, Raas-Rothschild A, Jørgensen A, Schittenhelm RB, Huang C, Robevska G, van den Bergen J, Casagranda F, Cyza J, Pachernegg S, Wright DK, Bahlo M, Oshlack A, O'Brien TJ, Kwan P, Koopman P, Hime GR, Girard N, Hoffmann C, Shilon Y, Zung A, Bertini E, Milh M, Ben Rhouma B, Belguith N, Bashamboo A, McElreavey K, Banne E, Weintrob N, BenZeev B, Sinclair AH. Ayers KL, et al. Among authors: mcelreavey k. Nat Commun. 2023 Jun 15;14(1):3566. doi: 10.1038/s41467-023-39372-x. Nat Commun. 2023. PMID: 37322043 Free PMC article. No abstract available.
Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.
Ayers KL, Eggers S, Rollo BN, Smith KR, Davidson NM, Siddall NA, Zhao L, Bowles J, Weiss K, Zanni G, Burglen L, Ben-Shachar S, Rosensaft J, Raas-Rothschild A, Jørgensen A, Schittenhelm RB, Huang C, Robevska G, van den Bergen J, Casagranda F, Cyza J, Pachernegg S, Wright DK, Bahlo M, Oshlack A, O'Brien TJ, Kwan P, Koopman P, Hime GR, Girard N, Hoffmann C, Shilon Y, Zung A, Bertini E, Milh M, Ben Rhouma B, Belguith N, Bashamboo A, McElreavey K, Banne E, Weintrob N, BenZeev B, Sinclair AH. Ayers KL, et al. Among authors: mcelreavey k. Nat Commun. 2023 Jun 9;14(1):3403. doi: 10.1038/s41467-023-39040-0. Nat Commun. 2023. PMID: 37296101 Free PMC article.
Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development.
Rjiba K, Mougou-Zerelli S, Hamida IH, Saad G, Khadija B, Jelloul A, Slimani W, Hasni Y, Dimassi S, Khelifa HB, Sallem A, Kammoun M, Abdallah HH, Gribaa M, Bignon-Topalovic J, Chelly S, Khairi H, Bibi M, Kacem M, Saad A, Bashamboo A, McElreavey K. Rjiba K, et al. Among authors: mcelreavey k. Reprod Biol Endocrinol. 2023 Jan 11;21(1):2. doi: 10.1186/s12958-022-01045-7. Reprod Biol Endocrinol. 2023. PMID: 36631813 Free PMC article.
241 results