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Diagnostic pitfalls in a young adult with new diabetes.
Below N, Morrison D, McGowan R, Jones GC. Below N, et al. Among authors: mcgowan r. Endocrinol Diabetes Metab Case Rep. 2023 Oct 12;2023(4):23-0024. doi: 10.1530/EDM-23-0024. Print 2023 Oct 1. Endocrinol Diabetes Metab Case Rep. 2023. PMID: 37855645 Free PMC article.
Gonadal Function in Boys with Bilateral Undescended Testes.
Lucas-Herald AK, Alkanhal KI, Caney E, Malik I, Alimussina M, McNeilly JD, Bradnock T, Lee B, Steven M, Flett M, O'Toole S, McGowan R, Faisal Ahmed S. Lucas-Herald AK, et al. Among authors: mcgowan r. J Endocr Soc. 2023 Dec 12;8(2):bvad153. doi: 10.1210/jendso/bvad153. eCollection 2024 Jan 5. J Endocr Soc. 2023. PMID: 38205164 Free PMC article.
SEC31A may be associated with pituitary hormone deficiency and gonadal dysgenesis.
Tobias ES, Lucas-Herald AK, Sagar D, Montezano AC, Rios FJ, De Lucca Camargo L, Hamilton G, Gazdagh G, Diver LA, Williams N, Herzyk P, Touyz RM, Greenfield A, McGowan R, Ahmed SF. Tobias ES, et al. Among authors: mcgowan r. Endocrine. 2024 May;84(2):345-349. doi: 10.1007/s12020-024-03701-x. Epub 2024 Feb 24. Endocrine. 2024. PMID: 38400880
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.
Pagnamenta AT, Yu J, Walker S, Noble AJ, Lord J, Dutta P, Hashim M, Camps C, Green H, Devaiah S, Nashef L, Parr J, Fratter C, Ibnouf Hussein R, Lindsay SJ, Lalloo F, Banos-Pinero B, Evans D, Mallin L, Waite A, Evans J, Newman A, Allen Z, Perez-Becerril C, Ryan G, Hart R, Taylor J, Bedenham T, Clement E, Blair E, Hay E, Forzano F, Higgs J, Canham N, Majumdar A, McEntagart M, Lahiri N, Stewart H, Smithson S, Calpena E, Jackson A, Banka S, Titheradge H, McGowan R, Rankin J, Shaw-Smith C, Evans DG, Burghel GJ, Smith MJ, Anderson E, Madhu R, Firth H, Ellard S, Brennan P, Anderson C, Taupin D, Rogers MT, Cook JA, Durkie M, East JE, Fowler D, Wilson L, Igbokwe R, Gardham A, Tomlinson I, Baralle D, Uhlig HH, Taylor JC. Pagnamenta AT, et al. Among authors: mcgowan r. Am J Hum Genet. 2024 May 16:S0002-9297(24)00159-9. doi: 10.1016/j.ajhg.2024.04.018. Online ahead of print. Am J Hum Genet. 2024. PMID: 38776926
275 results