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Deleterious variants in intolerant genes reveal new candidates for self-limited delayed puberty 在耐受性基因中的有害变异揭示了自限性延迟青春期的新的候选基因。 Rezende, Raissa C.; He, Wen; Kaisinger, Lena R.; Lerario, Antonio M.; Schafer, Evan C.; Kentistou, Katherine A.; Barroso, Priscila S.; Andrade, Nathalia L. M.; Dantas, Naiara C. B.; Costa, Elaine Maria F.; Cellin, Laurana P.; Quedas, Elisangela; Seminara, Stephanie B.; Rey, Rodolfo A.; Grinspon, Romina P.; Meriq, Veronica; Ong, Ken K.; Latronico, Ana Claudia; Perry, John R. B.; Howard, Sasha R.; Chan, Yee-Ming; Jorge, Alexander A. L. 分享 收藏
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Identifying patient-related predictors of permanent growth hormone deficiency Mericq, Veronica; Iniguez, German; Pinto, Graziella; Gonzalez-Briceno, Laura G.; Samara-Boustani, Dinane; Thalassinos, Caroline; Flechtner, Isabelle; Stoupa, Athanasia; Beltrand, Jacques; Besancon, Alix; Brabant, Severine; Ghazal, Khaldoun; Leban, Monique; Touraine, Philippe; Cavada, Gabriel; Polak, Michel; Kariyawasam, Dulanjalee 分享 收藏
Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty 患有生长和青春期体质延迟的患者中MC3R有害变体的患病率 Duckett, Katie; Williamson, Alice; Kincaid, John W. R.; Rainbow, Kara; Corbin, Laura J.; Martin, Hilary C.; Eberhardt, Ruth Y.; Huang, Qin Qin; Hurles, Matthew E.; He, Wen; Brauner, Raja; Delaney, Angela; Dunkel, Leo; Grinspon, Romina P.; Hall, Janet E.; Hirschhorn, Joel N.; Howard, Sasha R.; Latronico, Ana C.; Jorge, Alexander A. L.; McElreavey, Ken; Mericq, Veronica; Merino, Paulina M.; Palmert, Mark R.; Plummer, Lacey; Rey, Rodolfo A.; Rezende, Raissa C.; Seminara, Stephanie B.; Salnikov, Kathryn; Banerjee, Indraneel; Lam, Brian Y. H.; Perry, John R. B.; Timpson, Nicholas J.; Clayton, Peter; Chan, Yee-Ming; Ong, Ken K.; O'Rahilly, Stephen 分享 收藏
Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants (vol 23, pg 629, 2021) Rojas, Rebecca A.; Kutateladze, Anna A.; Plummer, Lacey; Stamou, Maria; Keefe Jr, David L.; Salnikov, Kathryn B.; Delaney, Angela; Hall, Janet E.; Sadreyev, Ruslan; Ji, Fei; Fliers, Eric; Gambosova, Katarina; Quinton, Richard; Merino, Paulina M.; Mericq, Veronica; Seminara, Stephanie B.; Crowley Jr, William F.; Balasubramanian, Ravikumar 分享 收藏
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The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity assay Lippincott, Margaret F.; Xu, Wanxue; Smith, Abigail A.; Miao, Xinyu; Lafont, Agathe; Shennib, Omar; Farley, Gordon J.; Sabbagh, Riwa; Delaney, Angela; Stamou, Maria; Plummer, Lacey; Salnikov, Kathryn; Georgopoulos, Neoklis A.; Mericq, Veronica; Quinton, Richard; Mau-Them, Frederic Tran; Nambot, Sophie; Hamad, Asma; Brittain, Helen; Tooze, Rebecca S.; Calpena, Eduardo; Wilkie, Andrew O. M.; Willems, Marjolaine; Crowley, William F.; Balasubramanian, Ravikumar; Lamarche-Vane, Nathalie; Davis, Erica E.; Seminara, Stephanie B. 分享 收藏
Biallelic POC1A variants cause syndromic severe insulin resistance with muscle cramps Mericq, Veronica; Huang-Doran, Isabel; Al-Naqeb, Dhekra; Basaure, Javiera; Castiglioni, Claudia; de Bruin, Christiaan; Hendriks, Yvonne; Bertini, Enrico; Alkuraya, Fowzan S.; Losekoot, Monique; Al-Rubeaan, Khalid; Semple, Robert K.; Wit, Jan M. 分享 收藏
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Lack of GNAS Remethylation During Oogenesis May Be a Cause of Sporadic Pseudohypoparathyroidism Type Ib Milioto, Angelo; Reyes, Monica; Hanna, Patrick; Kiuchi, Zentaro; Turan, Serap; Zeve, Daniel; Agarwal, Chhavi; Grigelioniene, Giedre; Chen, Ang; Mericq, Veronica; Frangos, Myrto; Ten, Svetlana; Mantovani, Giovanna; Salusky, Isidro B.; Tebben, Peter; Juppner, Harald 分享 收藏
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Novel loci and mapuche genetic ancestry are associated with pubertal growth traits in Chilean boys (May, 10.1007/s00439-021-02290-3, 2021) Vicuna, Lucas; Norambuena, Tomas; Miranda, Jose Patricio; Pereira, Ana; Mericq, Veronica; Ongaro, Linda; Montinaro, Francesco; Santos, Jose L.; Eyheramendy, Susana 分享 收藏
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Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants Rojas, Rebecca A.; Kutateladze, Anna A.; Plummer, Lacey; Stamou, Maria; Keefe, David L., Jr.; Salnikov, Kathyrn B.; Delaney, Angela; Hall, Janet E.; Sadreyev, Ruslan; Ji, Fei; Fliers, Eric; Gambosova, Katarina; Quinton, Richard; Merino, Paulina M.; Mericq, Veronica; Seminara, Stephanie B.; Crowley, William F., Jr.; Balasubramanian, Ravikumar 分享 收藏