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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: mericq v. 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.
Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants.
Rojas RA, Kutateladze AA, Plummer L, Stamou M, Keefe DL Jr, Salnikov KB, Delaney A, Hall JE, Sadreyev R, Ji F, Fliers E, Gambosova K, Quinton R, Merino PM, Mericq V, Seminara SB, Crowley WF Jr, Balasubramanian R. Rojas RA, et al. Among authors: mericq v. Genet Med. 2023 Jun;25(6):100855. doi: 10.1016/j.gim.2023.100855. Genet Med. 2023. PMID: 37272927 No abstract available.
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. J Clin Endocrinol Metab. 2024 Mar 13:dgae166. doi: 10.1210/clinem/dgae166. Online ahead of print. J Clin Endocrinol Metab. 2024. PMID: 38477512
Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism.
Wakeling MN, Owens NDL, Hopkinson JR, Johnson MB, Houghton JAL, Dastamani A, Flaxman CS, Wyatt RC, Hewat TI, Hopkins JJ, Laver TW, van Heugten R, Weedon MN, De Franco E, Patel KA, Ellard S, Morgan NG, Cheesman E, Banerjee I, Hattersley AT, Dunne MJ; International Congenital Hyperinsulinism Consortium; Richardson SJ, Flanagan SE. Wakeling MN, et al. Nat Genet. 2022 Nov;54(11):1615-1620. doi: 10.1038/s41588-022-01204-x. Epub 2022 Nov 4. Nat Genet. 2022. PMID: 36333503 Free PMC article.
Identifying patient-related predictors of permanent growth hormone deficiency.
Mericq V, Iñiguez G, Pinto G, Gonzalez-Briceño LG, Samara-Boustani D, Thalassinos C, Flechtner I, Stoupa A, Beltrand J, Besançon A, Brabant S, Ghazal K, Leban M, Touraine P, Cavada G, Polak M, Kariyawasam D. Mericq V, et al. Front Endocrinol (Lausanne). 2023 Oct 10;14:1270845. doi: 10.3389/fendo.2023.1270845. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37881494 Free PMC article.
164 results