228 related articles for article (PubMed ID: 32485746)
1. 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]
2. 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]
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. 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]
5. Targeted Gene Panel Sequencing for Molecular Diagnosis of Kallmann Syndrome and Normosmic Idiopathic Hypogonadotropic Hypogonadism.
Kim JH; Seo GH; Kim GH; Huh J; Hwang IT; Jang JH; Yoo HW; Choi JH
Exp Clin Endocrinol Diabetes; 2019 Sep; 127(8):538-544. PubMed ID: 30216942
[TBL] [Abstract][Full Text] [Related]
6. FGFR1 mutations in Kallmann syndrome.
Villanueva C; de Roux N
Front Horm Res; 2010; 39():51-61. PubMed ID: 20389085
[TBL] [Abstract][Full Text] [Related]
7. Compound deficiencies in multiple fibroblast growth factor signalling components differentially impact the murine gonadotrophin-releasing hormone system.
Chung WC; Matthews TA; Tata BK; Tsai PS
J Neuroendocrinol; 2010 Aug; 22(8):944-50. PubMed ID: 20553372
[TBL] [Abstract][Full Text] [Related]
8. Research on the variants of FGFR1 and CEP290 genes in idiopathic hypogonadotropin hypogonadism.
Wang SS; Zhao WY; Wu HX; Shu M; Yuan JX; Fang L; Xu C
Yi Chuan; 2022 Oct; 44(10):937-949. PubMed ID: 36384729
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism.
Raivio T; Sidis Y; Plummer L; Chen H; Ma J; Mukherjee A; Jacobson-Dickman E; Quinton R; Van Vliet G; Lavoie H; Hughes VA; Dwyer A; Hayes FJ; Xu S; Sparks S; Kaiser UB; Mohammadi M; Pitteloud N
J Clin Endocrinol Metab; 2009 Nov; 94(11):4380-90. PubMed ID: 19820032
[TBL] [Abstract][Full Text] [Related]
11. [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]
12. 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]
13. 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]
14. [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]
15. 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]
16. 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]
17. β-Klotho sustains postnatal GnRH biology and spins the thread of puberty.
Misrahi M
EMBO Mol Med; 2017 Oct; 9(10):1334-1337. PubMed ID: 28778954
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Reversible kallmann syndrome, delayed puberty, and isolated anosmia occurring in a single family with a mutation in the fibroblast growth factor receptor 1 gene.
Pitteloud N; Acierno JS; Meysing AU; Dwyer AA; Hayes FJ; Crowley WF
J Clin Endocrinol Metab; 2005 Mar; 90(3):1317-22. PubMed ID: 15613419
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
