未登录 Intravenous kisspeptin 112-121 bolus does not acutely impact circulating vasopressin in humans 静脉注射kisspeptin 112-121的冲击剂量不会急性影响人类循环中的血管加压素 Galbiati, Francesca; Plessow, Franziska; Plummer, Lacey; Campbell, Mark B.; Nazarloo, Shwan; Carter, C. Sue; Davis, John M.; Miller, Karen K.; Carroll, Rona S.; Kaiser, Ursula B.; Seminara, Stephanie B.; Aulinas, Anna; Lawson, Elizabeth A. 分享 收藏
Sex-dependent increases in oxytocin levels in response to intravenous kisspeptin in humans Galbiati, Francesca; Plessow, Franziska; Plummer, Lacey; Campbell, Mark B.; Nazarloo, Shawn; Carter, C. Sue; Carroll, Rona S.; Kim, Han K.; Pereira, Sidney A.; Paulis, Daria; Davis, John M.; Miller, Karen K.; Kaiser, Ursula B.; Seminara, Stephanie B.; Aulinas, Anna; Lawson, Elizabeth A. 分享 收藏
Mutations in EMX2, a Homeodomain Transcription Factor, Cause Idiopathic Hypogonadotropic Hypogonadism Stamou, Maria; Tompkin, Miranda; Bow, Hannah; Brand, Harrison; Plummer, Lacey; Talkowski, Michael; Shen, Yipin; Wu, Doris; Balasubramanian, Ravikumar; Wray, Susan; Seminara, Stephanie Beth 分享 收藏
Expanding the Spectrum of Endocrine Abnormalities Associated With SOX11-related Disorders Sun, Bang; Stamou, Maria, I; Stockman, Sara L.; Campbell, Mark B.; Plummer, Lacey; Salnikov, Kathryn B.; Kotan, Leman Damla; Topaloglu, A. Kemal; Hisama, Fuki M.; Davis, Erica E.; Seminara, Stephanie B.; Balasubramanian, Ravikumar 分享 收藏
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Defective FGFR1 Signaling Disrupts Glucose Regulation: Evidence From Humans With FGFR1 Mutations Stamou, Maria, I; Chiu, Crystal J.; Jadhav, Shreya, V; Lopes, Vanessa Ferreira; Salnikov, Kathryn B.; Plummer, Lacey; Lippincott, Margaret F.; Lee, Hang; Seminara, Stephanie B.; Balasubramanian, Ravikumar 分享 收藏
Contributions of Common Genetic Variants to Constitutional Delay of Puberty and Idiopathic Hypogonadotropic Hypogonadism Lippincott, Margaret F.; Schafer, Evan C.; Hindman, Anna A.; He, Wen; Brauner, Raja; Delaney, Angela; Grinspon, Romina; Hall, Janet E.; Hirschhorn, Joel N.; McElreavey, Kenneth; Palmert, Mark R.; Rey, Rodolfo; Seminara, Stephanie B.; Salem, Rany M.; Chan, Yee-Ming 分享 收藏
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POU6F2 mutation in humans with pubertal failure alters GnRH transcript expression Cho, Hyun-Ju; Gurbuz, Fatih; Stamou, Maria; Kotan, Leman Damla; Farmer, Stephen Matthew; Can, Sule; Tompkins, Miranda Faith; Mammadova, Jamala; Altincik, S. Ayca; Gokce, Cumali; Catli, Gonul; Bugrul, Fuat; Bartlett, Keenan; Turan, Ihsan; Balasubramanian, Ravikumar; Yuksel, Bilgin; Seminara, Stephanie B.; Wray, Susan; Topaloglu, A. Kemal 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
Heterozygous mutations in SOX2 may cause idiopathic hypogonadotropic hypogonadism via dominant-negative mechanisms Cassin, Jessica; Stamou, Maria I.; Keefe, Kimberly W.; Sung, Kaitlin E.; Bojo, Celine C.; Tonsfeldt, Karen J.; Rojas, Rebecca A.; Lopes, Vanessa Ferreira; Plummer, Lacey; Salnikov, Kathryn B.; Keefe, David L.; Ozata, Metin; Genel, Myron; Georgopoulos, Neoklis A.; Hall, Janet E.; Crowley, William F., Jr.; Seminara, Stephanie B.; Mellon, Pamela L.; Balasubramanian, Ravikumar 分享 收藏
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
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Reproductive Phenotypes and Genotypes in Men With IHH Dwyer, Andrew A.; Stamou, Maria; Anghel, Ella; Hornstein, Shira; Chen, Danna; Salnikov, Kathryn B.; McDonald, Isabella R.; Plummer, Lacey; Seminara, Stephanie B.; Balasubramanian, Ravikumar 分享 收藏
Prevalence and Phenotypic Effects of Copy Number Variants in Isolated Hypogonadotropic Hypogonadism Stamou, Maria, I; Brand, Harrison; Wang, Mei; Wong, Isaac; Lippincott, Margaret F.; Plummer, Lacey; Crowley, William F.; Talkowski, Michael; Seminara, Stephanie; Balasubramanian, Ravikumar 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
The genetic architecture of sporadic and multiple consecutive miscarriage Laisk, Triin; Soares, Ana Luiza G.; Ferreira, Teresa; Painter, Jodie N.; Censin, Jenny C.; Laber, Samantha; Bacelis, Jonas; Chen, Chia-Yen; Lepamets, Maarja; Lin, Kuang; Liu, Siyang; Millwood, Iona Y.; Ramu, Avinash; Southcombe, Jennifer; Andersen, Marianne S.; Yang, Ling; Becker, Christian M.; Borglum, Anders D.; Gordon, Scott D.; Bybjerg-Grauholm, Jonas; Helgeland, Oyvind; Hougaard, David M.; Jin, Xin; Johansson, Stefan; Juodakis, Julius; Kartsonaki, Christiana; Kukushkina, Viktorija; Lind, Penelope A.; Metspalu, Andres; Montgomery, Grant W.; Morris, Andrew P.; Mors, Ole; Mortensen, Preben B.; Njolstad, Pal R.; Nordentoft, Merete; Nyholt, Dale R.; Lippincott, Margaret; Seminara, Stephanie; Salumets, Andres; Snieder, Harold; Zondervan, Krina; Werge, Thomas; Chen, Zhengming; Conrad, Donald F.; Jacobsson, Bo; Li, Liming; Martin, Nicholas G.; Neale, Benjamin M.; Nielsen, Rasmus; Walters, Robin G.; Granne, Ingrid; Medland, Sarah E.; Maegi, Reedik; Lawlor, Deborah A.; Lindgren, Cecilia M. 分享 收藏
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