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Year Number of Results
2019 2
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Page 1
Congenital Hyperinsulinism and Novel KDM6A Duplications -Resolving Pathogenicity With Genome and Epigenetic Analyses.
Männistö JME, Hopkins JJ, Hewat TI, Nasser F, Burrage J, Dastamani A, Mirante A, Murphy N, Rzasa J, Kerkhof J, Relator R, Johnson MB, Laver TW, Weymouth L, Houghton JAL, Wakeling MN, Sadikovic B, Dempster EL, Flanagan SE. Männistö JME, et al. J Clin Endocrinol Metab. 2025 Apr 22;110(5):e1524-e1530. doi: 10.1210/clinem/dgae524. J Clin Endocrinol Metab. 2025. PMID: 39078990 Free PMC article.
Gynecomastia and Its Management In Boys With Partial Androgen Insensitivity Syndrome.
Patjamontri S, Lucas-Herald AK, Bryce J, van den Akker E, Cools M, Globa E, Guerra-Junior G, Hiort O, Hofman P, Holterhus PM, Hughes IA, Juul A, Nordenstrom A, Russo G, Stancampiano MR, Seneviratne SN, Tadokoro-Cuccaro R, Thankamony A, Weintrob N, Zelinska N, Ahmed SF. Patjamontri S, et al. J Clin Endocrinol Metab. 2025 May 19;110(6):e2018-e2025. doi: 10.1210/clinem/dgae562. J Clin Endocrinol Metab. 2025. PMID: 39213311 Free PMC article.
Gonadal function and pathology in 17beta-HSD 3 and 5alpha-reductase deficiency.
Boogers LS, Brüggenwirth HT, Wolffenbuttel KP, Hersmus R, Bryce J, Ahmed SF, Lucas-Herald AK, Baronio F, Cools M, Ellaithi M, Globa E, Güran T, Hiort O, Holterhus PM, McElreavey K, Niedziela M, Stancampiano MR, Tosun BG, van Bever Y, Oosterhuis JW, Looijenga LHJ, Hannema SE. Boogers LS, et al. Eur J Endocrinol. 2025 Jan 6;192(1):34-45. doi: 10.1093/ejendo/lvae154. Eur J Endocrinol. 2025. PMID: 39782875
Autism-linked NLGN3 is a key regulator of gonadotropin-releasing hormone deficiency.
Oleari R, Lettieri A, Manzini S, Paganoni A, André V, Grazioli P, Busnelli M, Duminuco P, Vitobello A, Philippe C, Bizaoui V, Storr HL, Amoruso F, Memi F, Vezzoli V, Massa V, Scheiffele P, Howard SR, Cariboni A. Oleari R, et al. Dis Model Mech. 2023 Mar 1;16(3):dmm049996. doi: 10.1242/dmm.049996. Epub 2023 Mar 28. Dis Model Mech. 2023. PMID: 36810932 Free PMC article.
Growth, puberty and testicular function in boys born small for gestational age with a nonspecific disorder of sex development.
Tack LJW, van der Straaten S, Riedl S, Springer A, Holterhus PM, Hornig NC, Kolesinska Z, Niedziela M, Baronio F, Balsamo A, Hannema SE, Nordenström A, Poyrazoglu S, Darendeliler FF, Grinspon R, Rey R, Aljuraibah F, Bryce J, Ahmed F, Tadokoro-Cuccaro R, Hughes I, Guaragna-Filho G, Maciel-Guerra AT, Guerra-Junior G, Cools M. Tack LJW, et al. Clin Endocrinol (Oxf). 2022 Feb;96(2):165-174. doi: 10.1111/cen.14614. Epub 2021 Oct 20. Clin Endocrinol (Oxf). 2022. PMID: 34668586
HDAC4 mutations cause diabetes and induce β-cell FoxO1 nuclear exclusion.
Gong M, Yu Y, Liang L, Vuralli D, Froehler S, Kuehnen P, Du Bois P, Zhang J, Cao A, Liu Y, Hussain K, Fielitz J, Jia S, Chen W, Raile K. Gong M, et al. Mol Genet Genomic Med. 2019 May;7(5):e602. doi: 10.1002/mgg3.602. Epub 2019 Apr 9. Mol Genet Genomic Med. 2019. PMID: 30968599 Free PMC article.
Growth Hormone Receptor (GHR) 6Ω Pseudoexon Activation: a Novel Cause of Severe Growth Hormone Insensitivity.
Cottrell E, Maharaj A, Williams J, Chatterjee S, Cirillo G, Miraglia Del Giudice E, Festa A, Palumbo S, Capalbo D, Salerno M, Pignata C, Savage MO, Schilbach K, Bidlingmaier M, Hwa V, Metherell LA, Grandone A, Storr HL. Cottrell E, et al. J Clin Endocrinol Metab. 2021 Jul 28:dgab550. doi: 10.1210/clinem/dgab550. Online ahead of print. J Clin Endocrinol Metab. 2021. PMID: 34453441
11 results