Citations for
1FSHR, ODG1
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 31(4):905-14. doi: 10.1093/humrep/dew025. Epub 2016 Feb 23. 2016
2AIS, ODG1
Consensus statement on management of intersex disorders.
Hughes IA, Houk C, Ahmed SF, Lee PA; LWPES Consensus Group; ESPE Consensus Group.
Arch Dis Child 91(7):554-63. Epub 2006 Apr 19. No abstract available. 2006
3FSHR, ODG1
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 87(3):1151-5. 2002
4FSHR, ODG1
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(7):1352-9. 1998
5FSHR, ODG1
Follicle stimulating hormone is required for ovarian follicle maturation but not male fertility.
Kumar TR, et al.
Nat Genet 15 : 201-204. 1997
6FSHR, ODG1
Clinical features of primary ovarian failure caused by a point mutation in the follicle-stimulating hormone receptor gene.
AittomŠki K, et al.
J Clin Endocrinol Metab 81 : 3722-3726. 1996
7FSHR, ODG1
Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure.
Aittomaki K, Lucena JL, Pakarinen P, Sistonen P, Tapanainen J, Gromoll J, Kaskikari R, Sankila EM, Lehvaslaiho H, Engel AR, Nieschlag E, Huhtaniemi I, de la Chapelle A.
Cell 82 : 959-968. 1995