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Items: 1 to 20 of 108

1.

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, Aittomäki K.

J Clin Endocrinol Metab. 2002 Mar;87(3):1151-5.

PMID:
11889179
2.

Novel Inactivating Mutation of the FSH Receptor in Two Siblings of Indian Origin With Premature Ovarian Failure.

Katari S, Wood-Trageser MA, Jiang H, Kalynchuk E, Muzumdar R, Yatsenko SA, Rajkovic A.

J Clin Endocrinol Metab. 2015 Jun;100(6):2154-7. doi: 10.1210/jc.2015-1401. Epub 2015 Apr 15.

3.

FSH receptor gene variants are rarely associated with premature ovarian failure.

Woad KJ, Prendergast D, Winship IM, Shelling AN.

Reprod Biomed Online. 2013 Apr;26(4):396-9. doi: 10.1016/j.rbmo.2013.01.004. Epub 2013 Jan 19.

PMID:
23419799
4.

A novel follicle-stimulating hormone receptor mutation causing primary ovarian failure: a fertility application of whole exome sequencing.

Bramble MS, Goldstein EH, Lipson A, Ngun T, Eskin A, Gosschalk JE, Roach L, Vashist N, Barseghyan H, Lee E, Arboleda VA, Vaiman D, Yuksel Z, Fellous M, Vilain E.

Hum Reprod. 2016 Apr;31(4):905-14. doi: 10.1093/humrep/dew025. Epub 2016 Feb 23.

5.

Functional and clinical consequences of mutations in the FSH receptor.

Gromoll J, Simoni M, Nordhoff V, Behre HM, De Geyter C, Nieschlag E.

Mol Cell Endocrinol. 1996 Dec 20;125(1-2):177-82. Review.

PMID:
9027356
6.

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, Aittomäki K, Nilsson C, Pakarinen P, Iitiä A, Torresani T, Simonsen H, Goh V, Pettersson K, de la Chapelle A, Huhtaniemi I.

J Clin Endocrinol Metab. 1998 Dec;83(12):4338-43.

PMID:
9851774
7.

Absence of 566C>T mutation in exon 7 of the FSHR gene in Indian women with premature ovarian failure.

Prakash GJ, Kanth VV, Shelling AN, Rozati R, Sujatha M.

Int J Gynaecol Obstet. 2009 Jun;105(3):265-6. doi: 10.1016/j.ijgo.2009.01.023. Epub 2009 Mar 31. No abstract available.

PMID:
19339009
8.

A novel loss of function mutation in exon 10 of the FSH receptor gene causing hypergonadotrophic hypogonadism: clinical and molecular characteristics.

Allen LA, Achermann JC, Pakarinen P, Kotlar TJ, Huhtaniemi IT, Jameson JL, Cheetham TD, Ball SG.

Hum Reprod. 2003 Feb;18(2):251-6.

PMID:
12571157
9.

Mutations and polymorphisms of the FSH receptor (FSHR) gene: clinical implications in female fecundity and molecular biology of FSHR protein and gene.

Lussiana C, Guani B, Mari C, Restagno G, Massobrio M, Revelli A.

Obstet Gynecol Surv. 2008 Dec;63(12):785-95. doi: 10.1097/OGX.0b013e31818957eb. Review.

PMID:
19017414
10.

Functional characterization of the human FSH receptor with an inactivating Ala189Val mutation.

Rannikko A, Pakarinen P, Manna PR, Beau I, Misrahi M, Aittomäki K, Huhtaniemi I.

Mol Hum Reprod. 2002 Apr;8(4):311-7.

PMID:
11912278
11.

Functional characterization of two naturally occurring mutations (Val514Ala and Ala575Val) in follicle-stimulating hormone receptor.

Desai SS, Achrekar SK, Sahasrabuddhe KA, Meharji PK, Desai SK, Mangoli VS, Mahale SD.

J Clin Endocrinol Metab. 2015 Apr;100(4):E638-45. doi: 10.1210/jc.2014-3662. Epub 2015 Jan 12.

PMID:
25581598
12.

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 JR, Milgrom E, Kuttenn F, Misrahi M.

Mol Endocrinol. 1999 Nov;13(11):1844-54.

PMID:
10551778
13.

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. 1998 Oct 1;102(7):1352-9.

14.

An unbalanced translocation unmasks a recessive mutation in the follicle-stimulating hormone receptor (FSHR) gene and causes FSH resistance.

Kuechler A, Hauffa BP, Köninger A, Kleinau G, Albrecht B, Horsthemke B, Gromoll J.

Eur J Hum Genet. 2010 Jun;18(6):656-61. doi: 10.1038/ejhg.2009.244. Epub 2010 Jan 20.

15.
17.

Inactivating FSH receptor mutations and gonadal dysfunction.

Tapanainen JS, Vaskivuo T, Aittomäki K, Huhtaniemi IT.

Mol Cell Endocrinol. 1998 Oct 25;145(1-2):129-35. Review.

PMID:
9922109
18.

Toward gene therapy of primary ovarian failure: adenovirus expressing human FSH receptor corrects the Finnish C566T mutation.

Ghadami M, Salama SA, Khatoon N, Chilvers R, Nagamani M, Chedrese PJ, Al-Hendy A.

Mol Hum Reprod. 2008 Jan;14(1):9-15. Epub 2007 Dec 14.

PMID:
18084009
19.

Molecular analysis of a mutated FSH receptor detected in a patient with spontaneous ovarian hyperstimulation syndrome.

Uchida S, Uchida H, Maruyama T, Kajitani T, Oda H, Miyazaki K, Kagami M, Yoshimura Y.

PLoS One. 2013 Sep 13;8(9):e75478. doi: 10.1371/journal.pone.0075478. eCollection 2013.

20.

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. 2008 Jan;29(1):91-8.

PMID:
17721928

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