233 related articles for article (PubMed ID: 21543378)
1. Mutational analysis of the necdin gene in patients with congenital isolated hypogonadotropic hypogonadism.
Beneduzzi D; Iyer AK; Trarbach EB; Silveira-Neto AP; Silveira LG; Tusset C; Yip K; Mendonça BB; Mellon PL; Latronico AC
Eur J Endocrinol; 2011 Jul; 165(1):145-50. PubMed ID: 21543378
[TBL] [Abstract][Full Text] [Related]
2. Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform.
Gonçalves C; Bastos M; Pignatelli D; Borges T; Aragüés JM; Fonseca F; Pereira BD; Socorro S; Lemos MC
Fertil Steril; 2015 Nov; 104(5):1261-7.e1. PubMed ID: 26277103
[TBL] [Abstract][Full Text] [Related]
3. A mutation in the fibroblast growth factor receptor 1 gene causes fully penetrant normosmic isolated hypogonadotropic hypogonadism.
Xu N; Qin Y; Reindollar RH; Tho SP; McDonough PG; Layman LC
J Clin Endocrinol Metab; 2007 Mar; 92(3):1155-8. PubMed ID: 17200176
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Necdin, a Prader-Willi syndrome candidate gene, regulates gonadotropin-releasing hormone neurons during development.
Miller NL; Wevrick R; Mellon PL
Hum Mol Genet; 2009 Jan; 18(2):248-60. PubMed ID: 18930956
[TBL] [Abstract][Full Text] [Related]
6. Novel fibroblast growth factor receptor 1 mutations in patients with congenital hypogonadotropic hypogonadism with and without anosmia.
Trarbach EB; Costa EM; Versiani B; de Castro M; Baptista MT; Garmes HM; de Mendonca BB; Latronico AC
J Clin Endocrinol Metab; 2006 Oct; 91(10):4006-12. PubMed ID: 16882753
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Expanding the mutational spectrum of monogenic hypogonadotropic hypogonadism: novel mutations in ANOS1 and FGFR1 genes.
Gach A; Pinkier I; Szarras-Czapnik M; Sakowicz A; Jakubowski L
Reprod Biol Endocrinol; 2020 Jan; 18(1):8. PubMed ID: 31996231
[TBL] [Abstract][Full Text] [Related]
9. [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]
10. Mutation analyses in pedigrees and sporadic cases of ethnic Han Chinese Kallmann syndrome patients.
Gu WJ; Zhang Q; Wang YQ; Yang GQ; Hong TP; Zhu DL; Yang JK; Ning G; Jin N; Chen K; Zang L; Wang AP; Du J; Wang XL; Yang LJ; Ba JM; Lv ZH; Dou JT; Mu YM
Exp Biol Med (Maywood); 2015 Nov; 240(11):1480-9. PubMed ID: 26031747
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. A Novel
Fadiga L; Lavrador M; Vicente N; Barros L; Gonçalves CI; Al-Naama A; Saraiva LR; Lemos MC
Int J Mol Sci; 2022 Apr; 23(8):. PubMed ID: 35457241
[TBL] [Abstract][Full Text] [Related]
13. Nasal embryonic LHRH factor (NELF) mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome.
Xu N; Kim HG; Bhagavath B; Cho SG; Lee JH; Ha K; Meliciani I; Wenzel W; Podolsky RH; Chorich LP; Stackhouse KA; Grove AM; Odom LN; Ozata M; Bick DP; Sherins RJ; Kim SH; Cameron RS; Layman LC
Fertil Steril; 2011 Apr; 95(5):1613-20.e1-7. PubMed ID: 21300340
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. [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]
16. CCDC141 Mutations in Idiopathic Hypogonadotropic Hypogonadism.
Turan I; Hutchins BI; Hacihamdioglu B; Kotan LD; Gurbuz F; Ulubay A; Mengen E; Yuksel B; Wray S; Topaloglu AK
J Clin Endocrinol Metab; 2017 Jun; 102(6):1816-1825. PubMed ID: 28324054
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Congenital hypogonadotropic hypogonadism in females: clinical spectrum, evaluation and genetics.
Bry-Gauillard H; Trabado S; Bouligand J; Sarfati J; Francou B; Salenave S; Chanson P; Brailly-Tabard S; Guiochon-Mantel A; Young J
Ann Endocrinol (Paris); 2010 May; 71(3):158-62. PubMed ID: 20363464
[TBL] [Abstract][Full Text] [Related]
19. Loss-of-function mutations in the genes encoding prokineticin-2 or prokineticin receptor-2 cause autosomal recessive Kallmann syndrome.
Abreu AP; Trarbach EB; de Castro M; Frade Costa EM; Versiani B; Matias Baptista MT; Garmes HM; Mendonca BB; Latronico AC
J Clin Endocrinol Metab; 2008 Oct; 93(10):4113-8. PubMed ID: 18682503
[TBL] [Abstract][Full Text] [Related]
20. Molecular genetics of isolated hypogonadotropic hypogonadism and Kallmann syndrome.
Karges B; Roux N
Endocr Dev; 2005; 8():67-80. PubMed ID: 15722618
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
