400 related articles for article (PubMed ID: 26277103)
1. 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]
2. A case of Kallmann syndrome carrying a missense mutation in alternatively spliced exon 8A encoding the immunoglobulin-like domain IIIb of fibroblast growth factor receptor 1.
Miura K; Miura S; Yoshiura K; Seminara S; Hamaguchi D; Niikawa N; Masuzaki H
Hum Reprod; 2010 Apr; 25(4):1076-80. PubMed ID: 20139426
[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. 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]
5. 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]
6. [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]
7. 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]
8. 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]
9. 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]
10. 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]
11. 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]
12. Comparative functional analysis of two fibroblast growth factor receptor 1 (FGFR1) mutations affecting the same residue (R254W and R254Q) in isolated hypogonadotropic hypogonadism (IHH).
Koika V; Varnavas P; Valavani H; Sidis Y; Plummer L; Dwyer A; Quinton R; Kanaka-Gantenbein C; Pitteloud N; Sertedaki A; Dacou-Voutetakis C; Georgopoulos NA
Gene; 2013 Mar; 516(1):146-51. PubMed ID: 23276709
[TBL] [Abstract][Full Text] [Related]
13. Genetic diagnosis of idiopathic hypogonadotrophic hypogonadism: a new point mutation in the KAL2 gene.
Entrala-Bernal C; Montes-Castillo C; Alvarez-Cubero MJ; Gutiérrez-Alcántara C; Fernandez-Rosado F; Martinez-Espίn E; Sánchez-Malo C; Santiago-Fernández P
Hormones (Athens); 2014; 13(2):280-5. PubMed ID: 24776628
[TBL] [Abstract][Full Text] [Related]
14. Hypogonadotropic Hypogonadism due to Novel FGFR1 Mutations.
Akkuş G; Kotan LD; Durmaz E; Mengen E; Turan İ; Ulubay A; Gürbüz F; Yüksel B; Tetiker T; Topaloğlu AK
J Clin Res Pediatr Endocrinol; 2017 Jun; 9(2):95-100. PubMed ID: 28008864
[TBL] [Abstract][Full Text] [Related]
15. Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients.
Sato N; Katsumata N; Kagami M; Hasegawa T; Hori N; Kawakita S; Minowada S; Shimotsuka A; Shishiba Y; Yokozawa M; Yasuda T; Nagasaki K; Hasegawa D; Hasegawa Y; Tachibana K; Naiki Y; Horikawa R; Tanaka T; Ogata T
J Clin Endocrinol Metab; 2004 Mar; 89(3):1079-88. PubMed ID: 15001591
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. Idiopathic hypogonadotropic hypogonadism in a mother and her monozygotic twins born after a single embryo transfer.
Laitinen EM; Tommiska J; Dunkel L; Sankilampi U; Vaaralahti K; Raivio T
Fertil Steril; 2010 Apr; 93(6):2074.e13-6. PubMed ID: 20079901
[TBL] [Abstract][Full Text] [Related]
19. Combined in vitro and in silico analyses of FGFR1 variants: genotype-phenotype study in idiopathic hypogonadotropic hypogonadism.
Wang D; Niu Y; Tan J; Chen Y; Xu H; Ling Q; Gong J; Ling L; Wang J; Wang T; Liu J
Clin Genet; 2020 Oct; 98(4):341-352. PubMed ID: 32666525
[TBL] [Abstract][Full Text] [Related]
20. Genotypic and phenotypic spectra of FGFR1, FGF8, and FGF17 mutations in a Chinese cohort with idiopathic hypogonadotropic hypogonadism.
Men M; Wu J; Zhao Y; Xing X; Jiang F; Zheng R; Li JD
Fertil Steril; 2020 Jan; 113(1):158-166. PubMed ID: 31748124
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
