289 related articles for article (PubMed ID: 8954047)
1. The genetic and clinical heterogeneity of gonadotropin-releasing hormone deficiency in the human.
Waldstreicher J; Seminara SB; Jameson JL; Geyer A; Nachtigall LB; Boepple PA; Holmes LB; Crowley WF
J Clin Endocrinol Metab; 1996 Dec; 81(12):4388-95. PubMed ID: 8954047
[TBL] [Abstract][Full Text] [Related]
2. Idiopathic gonadotrophin deficiency: genetic questions addressed through phenotypic characterization.
Quinton R; Duke VM; Robertson A; Kirk JM; Matfin G; de Zoysa PA; Azcona C; MacColl GS; Jacobs HS; Conway GS; Besser M; Stanhope RG; Bouloux PM
Clin Endocrinol (Oxf); 2001 Aug; 55(2):163-74. PubMed ID: 11531922
[TBL] [Abstract][Full Text] [Related]
3. The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics.
Oliveira LM; Seminara SB; Beranova M; Hayes FJ; Valkenburgh SB; Schipani E; Costa EM; Latronico AC; Crowley WF; Vallejo M
J Clin Endocrinol Metab; 2001 Apr; 86(4):1532-8. PubMed ID: 11297579
[TBL] [Abstract][Full Text] [Related]
4. [GnRH deficiency: new insights from genetics].
Kottler ML; Hamel A; Malville E; Richard N
J Soc Biol; 2004; 198(1):80-7. PubMed ID: 15146960
[TBL] [Abstract][Full Text] [Related]
5. Mutation analysis of the KAL gene in female patients with gonadotropin-releasing hormone deficiency.
Lee SH; Han JH; Cho SW; Lee WH; Cha KY; Lee MH
Yonsei Med J; 2004 Feb; 45(1):107-12. PubMed ID: 15004876
[TBL] [Abstract][Full Text] [Related]
6. Physiologic and genetic insights into the pathophysiology and management of hypogonadotropic hypogonadism.
Hall JE
Ann Endocrinol (Paris); 1999 Jul; 60(2):93-101. PubMed ID: 10456179
[TBL] [Abstract][Full Text] [Related]
7. Congenital Hypogonadotropic Hypogonadism with Anosmia and Gorlin Features Caused by a PTCH1 Mutation Reveals a New Candidate Gene for Kallmann Syndrome.
Barraud S; Delemer B; Poirsier-Violle C; Bouligand J; Mérol JC; Grange F; Higel-Chaufour B; Decoudier B; Zalzali M; Dwyer AA; Acierno JS; Pitteloud N; Millar RP; Young J
Neuroendocrinology; 2021; 111(1-2):99-114. PubMed ID: 32074614
[TBL] [Abstract][Full Text] [Related]
8. Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes.
Pitteloud N; Meysing A; Quinton R; Acierno JS; Dwyer AA; Plummer L; Fliers E; Boepple P; Hayes F; Seminara S; Hughes VA; Ma J; Bouloux P; Mohammadi M; Crowley WF
Mol Cell Endocrinol; 2006 Jul; 254-255():60-9. PubMed ID: 16764984
[TBL] [Abstract][Full Text] [Related]
9. Clinical manifestations of impaired GnRH neuron development and function.
Kim HG; Bhagavath B; Layman LC
Neurosignals; 2008; 16(2-3):165-82. PubMed ID: 18253056
[TBL] [Abstract][Full Text] [Related]
10. The role of prior pubertal development, biochemical markers of testicular maturation, and genetics in elucidating the phenotypic heterogeneity of idiopathic hypogonadotropic hypogonadism.
Pitteloud N; Hayes FJ; Boepple PA; DeCruz S; Seminara SB; MacLaughlin DT; Crowley WF
J Clin Endocrinol Metab; 2002 Jan; 87(1):152-60. PubMed ID: 11788640
[TBL] [Abstract][Full Text] [Related]
11. Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice.
Falardeau J; Chung WC; Beenken A; Raivio T; Plummer L; Sidis Y; Jacobson-Dickman EE; Eliseenkova AV; Ma J; Dwyer A; Quinton R; Na S; Hall JE; Huot C; Alois N; Pearce SH; Cole LW; Hughes V; Mohammadi M; Tsai P; Pitteloud N
J Clin Invest; 2008 Aug; 118(8):2822-31. PubMed ID: 18596921
[TBL] [Abstract][Full Text] [Related]
12. Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann's syndrome): pathophysiological and genetic considerations.
Seminara SB; Hayes FJ; Crowley WF
Endocr Rev; 1998 Oct; 19(5):521-39. PubMed ID: 9793755
[No Abstract] [Full Text] [Related]
13. Genetic heterogeneity evidenced by low incidence of KAL-1 gene mutations in sporadic cases of gonadotropin-releasing hormone deficiency.
Georgopoulos NA; Pralong FP; Seidman CE; Seidman JG; Crowley WF; Vallejo M
J Clin Endocrinol Metab; 1997 Jan; 82(1):213-7. PubMed ID: 8989261
[TBL] [Abstract][Full Text] [Related]
14. The prevalence of intragenic deletions in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
Pedersen-White JR; Chorich LP; Bick DP; Sherins RJ; Layman LC
Mol Hum Reprod; 2008 Jun; 14(6):367-70. PubMed ID: 18463157
[TBL] [Abstract][Full Text] [Related]
15. Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism.
Pitteloud N; Quinton R; Pearce S; Raivio T; Acierno J; Dwyer A; Plummer L; Hughes V; Seminara S; Cheng YZ; Li WP; Maccoll G; Eliseenkova AV; Olsen SK; Ibrahimi OA; Hayes FJ; Boepple P; Hall JE; Bouloux P; Mohammadi M; Crowley W
J Clin Invest; 2007 Feb; 117(2):457-63. PubMed ID: 17235395
[TBL] [Abstract][Full Text] [Related]
16. Prevalence, phenotypic spectrum, and modes of inheritance of gonadotropin-releasing hormone receptor mutations in idiopathic hypogonadotropic hypogonadism.
Beranova M; Oliveira LM; Bédécarrats GY; Schipani E; Vallejo M; Ammini AC; Quintos JB; Hall JE; Martin KA; Hayes FJ; Pitteloud N; Kaiser UB; Crowley WF; Seminara SB
J Clin Endocrinol Metab; 2001 Apr; 86(4):1580-8. PubMed ID: 11297587
[TBL] [Abstract][Full Text] [Related]
17. Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum.
Cole LW; Sidis Y; Zhang C; Quinton R; Plummer L; Pignatelli D; Hughes VA; Dwyer AA; Raivio T; Hayes FJ; Seminara SB; Huot C; Alos N; Speiser P; Takeshita A; Van Vliet G; Pearce S; Crowley WF; Zhou QY; Pitteloud N
J Clin Endocrinol Metab; 2008 Sep; 93(9):3551-9. PubMed ID: 18559922
[TBL] [Abstract][Full Text] [Related]
18. The genetics of hypogonadotropic hypogonadism.
Bhagavath B; Layman LC
Semin Reprod Med; 2007 Jul; 25(4):272-86. PubMed ID: 17594608
[TBL] [Abstract][Full Text] [Related]
19. Functional Characteristics of Novel FGFR1 Mutations in Patients with Isolated Gonadotropin-Releasing Hormone Deficiency.
Choi JH; Oh A; Lee Y; Kim GH; Yoo HW
Exp Clin Endocrinol Diabetes; 2021 Jun; 129(6):457-463. PubMed ID: 32485746
[TBL] [Abstract][Full Text] [Related]
20. GnRH neuronal development: insights into hypogonadotrophic hypogonadism.
MacColl G; Quinton R; Bouloux PM
Trends Endocrinol Metab; 2002 Apr; 13(3):112-8. PubMed ID: 11893524
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]