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An activating mutation of the follicle-stimulating hormone receptor autonomously sustains spermatogenesis in a hypophysectomized man.Gromoll J., Simoni M., Nieschlag E.J. Clin. Endocrinol. Metab. 81:1367-1370(1996)
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of the human follicle-stimulating hormone receptor gene in four populations using allele-specific hybridization and time-resolved fluorometry.Jiang M., Aittomaeki K., Nilsson C., Pakarinen P., Iitia A., Torresani T., Simonsen H., Goh V., Pettersson K., de la Chapelle A., Huhtaniemi I.J. Clin. Endocrinol. Metab. 83:4338-4343(1998)
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Ovarian hyperstimulation syndrome due to a mutation in the follicle-stimulating hormone receptor.Smits G., Olatunbosun O., Delbaere A., Pierson R., Vassart G., Costagliola S.N. Engl. J. Med. 349:760-766(2003)
A mutation in the follicle-stimulating hormone receptor as a cause of familial spontaneous ovarian hyperstimulation syndrome.Montanelli L., Delbaere A., Di Carlo C., Nappi C., Smits G., Vassart G., Costagliola S.J. Clin. Endocrinol. Metab. 89:1255-1258(2004)
Presence and absence of follicle-stimulating hormone receptor mutations provide some insights into spontaneous ovarian hyperstimulation syndrome physiopathology.De Leener A., Montanelli L., Van Durme J., Chae H., Smits G., Vassart G., Costagliola S.J. Clin. Endocrinol. Metab. 91:555-562(2006)
Identification of the first germline mutation in the extracellular domain of the follitropin receptor responsible for spontaneous ovarian hyperstimulation syndrome.De Leener A., Caltabiano G., Erkan S., Idil M., Vassart G., Pardo L., Costagliola S.Hum. Mutat. 29:91-98(2008)
+Additional computationally mapped references.<p>Provides general information on the entry.