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Page 1
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.
Lessel I, Baresic A, Chinn IK, May J, Goenka A, Chandler KE, Posey JE, Afenjar A, Averdunk L, Bedeschi MF, Besnard T, Brager R, Brick L, Brugger M, Brunet T, Byrne S, Calle-Martín O, Capra V, Cardenas P, Chappé C, Chong HJ, Cogne B, Conboy E, Cope H, Courtin T, Deb W, Dilena R, Dubourg C, Elgizouli M, Fernandes E, Fitzgerald KK, Gangi S, George-Abraham JK, Gucsavas-Calikoglu M, Haack TB, Hadonou M, Hanker B, Hüning I, Iascone M, Isidor B, Järvelä I, Jin JJ, Jorge AAL, Josifova D, Kalinauskiene R, Kamsteeg EJ, Keren B, Kessler E, Kölbel H, Kozenko M, Kubisch C, Kuechler A, Leal SM, Leppälä J, Luu SM, Lyon GJ, Madan-Khetarpal S, Mancardi M, Marchi E, Mehta L, Menendez B, Morel CF, Harasink SM, Nevay DL, Nigro V, Odent S, Oegema R, Pappas J, Pastore MT, Perilla-Young Y, Platzer K, Powell-Hamilton N, Rabin R, Rekab A, Rezende RC, Robert L, Romano F, Scala M, Poths K, Schrauwen I, Sebastian J, Short J, Sidlow R, Sullivan J, Szakszon K, Tan QKG; Undiagnosed Diseases Network; Wagner M, Wieczorek D, Yuan B, Maeding N, Strunk D, Begtrup A, Banka S, Lupski JR, Tolosa E, Lessel D. Lessel I, et al. Among authors: rezende rc. Am J Hum Genet. 2025 Feb 6;112(2):394-413. doi: 10.1016/j.ajhg.2024.12.012. Epub 2025 Jan 10. Am J Hum Genet. 2025. PMID: 39798569 Free PMC article.
Deleterious variants in intolerant genes reveal new candidates for self-limited delayed puberty.
Rezende RC, He W, Kaisinger LR, Lerario AM, Schafer EC, Kentistou KA, Barroso PS, Andrade NLM, Dantas NCB, Costa EMF, Cellin LP, P S Quedas E, Seminara SB, Rey RA, Grinspon RP, Meriq V, Ong KK, Latronico AC, Perry JRB, Howard SR, Chan YM, Jorge AAL; Delayed Puberty Genetics Consortium. Rezende RC, et al. Eur J Endocrinol. 2025 Mar 27;192(4):481-490. doi: 10.1093/ejendo/lvaf061. Eur J Endocrinol. 2025. PMID: 40193575
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: rezende rc. 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.
Diagnostic yield of a multigene sequencing approach in children classified as idiopathic short stature.
Andrade NLM, Funari MFA, Malaquias AC, Collett-Solberg PF, Gomes NLRA, Scalco R, Dantas NCB, Rezende RC, Tiburcio AMFP, Souza MAR, Freire BL, Krepischi ACV, Longui CA, Lerario AM, Arnhold IJP, Jorge AAL, Vasques GA. Andrade NLM, et al. Among authors: rezende rc. Endocr Connect. 2022 Nov 14;11(12):e220214. doi: 10.1530/EC-22-0214. Print 2022 Dec 1. Endocr Connect. 2022. PMID: 36373817 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. J Clin Endocrinol Metab. 2024 Dec 18;110(1):e61-e67. doi: 10.1210/clinem/dgae166. J Clin Endocrinol Metab. 2024. PMID: 38477512 Free PMC article.
14 results