266 related articles for article (PubMed ID: 26708526)
1. Spectrum of phenotype and genotype of congenital isolated hypogonadotropic hypogonadism in Asian Indians.
Nair S; Jadhav S; Lila A; Jagtap V; Bukan A; Pandit R; Ekbote A; Dharmalingam M; Kumar P; Kalra P; Gandhi P; Walia R; Sankhe S; Raghavan V; Shivane V; Menon P; Bandgar T; Shah N
Clin Endocrinol (Oxf); 2016 Jul; 85(1):100-9. PubMed ID: 26708526
[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. 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]
4. 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]
5. Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism.
Pitteloud N; Acierno JS; Meysing A; Eliseenkova AV; Ma J; Ibrahimi OA; Metzger DL; Hayes FJ; Dwyer AA; Hughes VA; Yialamas M; Hall JE; Grant E; Mohammadi M; Crowley WF
Proc Natl Acad Sci U S A; 2006 Apr; 103(16):6281-6. PubMed ID: 16606836
[TBL] [Abstract][Full Text] [Related]
6. Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism.
Pitteloud N; Zhang C; Pignatelli D; Li JD; Raivio T; Cole LW; Plummer L; Jacobson-Dickman EE; Mellon PL; Zhou QY; Crowley WF
Proc Natl Acad Sci U S A; 2007 Oct; 104(44):17447-52. PubMed ID: 17959774
[TBL] [Abstract][Full Text] [Related]
7. Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants.
Rojas RA; Kutateladze AA; Plummer L; Stamou M; Keefe DL; Salnikov KB; Delaney A; Hall JE; Sadreyev R; Ji F; Fliers E; Gambosova K; Quinton R; Merino PM; Mericq V; Seminara SB; Crowley WF; Balasubramanian R
Genet Med; 2021 Apr; 23(4):629-636. PubMed ID: 33442024
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. The prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome.
Quaynor SD; Kim HG; Cappello EM; Williams T; Chorich LP; Bick DP; Sherins RJ; Layman LC
Fertil Steril; 2011 Dec; 96(6):1424-1430.e6. PubMed ID: 22035731
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. [Children with idiopathic hypogonadotropic hypogonadism: clinical data analysis and mutations analysis of KAL1 and FGFR1 gene].
Qin M; Gong C; Qi Z; Wu D; Liu M; Gu Y; Cao B; Li W; Liang X
Zhonghua Er Ke Za Zhi; 2014 Dec; 52(12):942-7. PubMed ID: 25619354
[TBL] [Abstract][Full Text] [Related]
12. [Clinical and molecular aspects of congenital isolated hypogonadotropic hypogonadism].
Tusset C; Trarbach EB; Silveira LF; Beneduzzi D; Montenegro L; Latronico AC
Arq Bras Endocrinol Metabol; 2011 Nov; 55(8):501-11. PubMed ID: 22218430
[TBL] [Abstract][Full Text] [Related]
13. Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
Kim HG; Kurth I; Lan F; Meliciani I; Wenzel W; Eom SH; Kang GB; Rosenberger G; Tekin M; Ozata M; Bick DP; Sherins RJ; Walker SL; Shi Y; Gusella JF; Layman LC
Am J Hum Genet; 2008 Oct; 83(4):511-9. PubMed ID: 18834967
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Olfactory phenotypic spectrum in idiopathic hypogonadotropic hypogonadism: pathophysiological and genetic implications.
Lewkowitz-Shpuntoff HM; Hughes VA; Plummer L; Au MG; Doty RL; Seminara SB; Chan YM; Pitteloud N; Crowley WF; Balasubramanian R
J Clin Endocrinol Metab; 2012 Jan; 97(1):E136-44. PubMed ID: 22072740
[TBL] [Abstract][Full Text] [Related]
16. Reversible congenital hypogonadotropic hypogonadism in patients with CHD7, FGFR1 or GNRHR mutations.
Laitinen EM; Tommiska J; Sane T; Vaaralahti K; Toppari J; Raivio T
PLoS One; 2012; 7(6):e39450. PubMed ID: 22724017
[TBL] [Abstract][Full Text] [Related]
17. Prevalence and associated phenotypes of PLXNA1 variants in normosmic and anosmic idiopathic hypogonadotropic hypogonadism.
Kotan LD; Isik E; Turan I; Mengen E; Akkus G; Tastan M; Gurbuz F; Yuksel B; Topaloglu AK
Clin Genet; 2019 Feb; 95(2):320-324. PubMed ID: 30467832
[TBL] [Abstract][Full Text] [Related]
18. Clinical and molecular characterization of a large sample of patients with hypogonadotropic hypogonadism.
Bhagavath B; Podolsky RH; Ozata M; Bolu E; Bick DP; Kulharya A; Sherins RJ; Layman LC
Fertil Steril; 2006 Mar; 85(3):706-13. PubMed ID: 16500342
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]
