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Generation and annotation of the DNA sequences of human chromosomes 2 and 4.Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.Nature 434:724-731(2005)
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Molecular cloning of a truncated isoform of the human follicle stimulating hormone receptor.Gromoll J., Gudermann T., Nieschlag E.Biochem. Biophys. Res. Commun. 188:1077-1083(1992)
Characterization of the 5' flanking region of the human follicle-stimulating hormone receptor gene.Gromoll J., Dankbar B., Gudermann T.Mol. Cell. Endocrinol. 102:93-102(1994)
Localization of the human FSH receptor to chromosome 2p21 using a genomic probe comprising exon 10.Gromoll J., Ried T., Holtgreve-Grez H., Nieschlag E., Gudermann T.J. Mol. Endocrinol. 12:265-271(1994)
Alternatively spliced variants of the follicle-stimulating hormone receptor gene in the testis of infertile men.Song G.J., Park Y.S., Lee Y.S., Lee C.C., Kang I.S.Fertil. Steril. 77:499-504(2002)
Structural predictions for the ligand-binding region of glycoprotein hormone receptors and the nature of hormone-receptor interactions.Jiang X., Dreano M., Buckler D.R., Cheng S., Ythier A., Wu H., Hendrickson W.A., el Tayar N.Structure 3:1341-1353(1995)
Structure of human follicle-stimulating hormone in complex with its receptor.Fan Q.R., Hendrickson W.A.Nature 433:269-277(2005)
Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure.Aittomaeki K., Lucena J.L.D., Pakarinen P., Sistonen P., Tapanainen J., Gromoll J., Kaskikari R., Sankila E.-M., Lehvaslaiho H., Engel A.R., Nieschlag E., Huhtaniemi I., de la Chapelle A.Cell 82:959-968(1995)
A mutation in the follicle-stimulating hormone receptor occurs frequently in human ovarian sex cord tumors.Kotlar T.J., Young R.H., Albanese C., Crowley W.F. Jr., Scully R.E., Jameson J.L.J. Clin. Endocrinol. Metab. 82:1020-1026(1997)
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)
The frequency of an inactivating point mutation (566C-->T)
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)
A novel phenotype related to partial loss of function mutations of the follicle stimulating hormone receptor.Beau I., Touraine P., Meduri G., Gougeon A., Desroches A., Matuchansky C., Milgrom E., Kuttenn F., Misrahi M.J. Clin. Invest. 102:1352-1359(1998)
New natural inactivating mutations of the follicle-stimulating hormone receptor
correlations between receptor function and phenotype.Touraine P., Beau I., Gougeon A., Meduri G., Desroches A., Pichard C., Detoeuf M., Paniel B., Prieur M., Zorn J.-R., Milgrom E., Kuttenn F., Misrahi M.Mol. Endocrinol. 13:1844-1854(1999)
Characterization of single-nucleotide polymorphisms in coding regions of human genes.Cargill M., Altshuler D., Ireland J., Sklar P., Ardlie K., Patil N., Shaw N., Lane C.R., Lim E.P., Kalyanaraman N., Nemesh J., Ziaugra L., Friedland L., Rolfe A., Warrington J., Lipshutz R., Daley G.Q., Lander E.S.Nat. Genet. 22:231-238(1999)
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Distribution and function of FSH receptor genetic variants in normal men.Asatiani K., Gromoll J., Eckardstein S.V., Zitzmann M., Nieschlag E., Simoni M.Andrologia 34:172-176(2002)
A novel mutation in the FSH receptor inhibiting signal transduction and causing primary ovarian failure.Doherty E., Pakarinen P., Tiitinen A., Kiilavuori A., Huhtaniemi I., Forrest S., Aittomaeki K.J. Clin. Endocrinol. Metab. 87:1151-1155(2002)
A novel loss of function mutation in exon 10 of the FSH receptor gene causing hypergonadotrophic hypogonadism
clinical and molecular characteristics.Allen L.A., Achermann J.C., Pakarinen P., Kotlar T.J., Huhtaniemi I.T., Jameson J.L., Cheetham T.D., Ball S.G.Hum. Reprod. 18:251-256(2003)
Delayed puberty and primary amenorrhea associated with a novel mutation of the human follicle-stimulating hormone receptor
clinical, histological, and molecular studies.Meduri G., Touraine P., Beau I., Lahuna O., Desroches A., Vacher-Lavenu M.C., Kuttenn F., Misrahi M.J. Clin. Endocrinol. Metab. 88:3491-3498(2003)
A chorionic gonadotropin-sensitive mutation in the follicle-stimulating hormone receptor as a cause of familial gestational spontaneous ovarian hyperstimulation syndrome.Vasseur C., Rodien P., Beau I., Desroches A., Gerard C., de Poncheville L., Chaplot S., Savagner F., Croue A., Mathieu E., Lahlou N., Descamps P., Misrahi M.N. Engl. J. Med. 349:753-759(2003)
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)
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