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206 related items for PubMed ID: 31748124

  • 1. 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
    [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
    [Abstract] [Full Text] [Related]

  • 3. Mutation profiles and clinical characteristics of Chinese males with isolated hypogonadotropic hypogonadism.
    Zhou C, Niu Y, Xu H, Li Z, Wang T, Yang W, Wang S, Wang DW, Liu J.
    Fertil Steril; 2018 Aug; 110(3):486-495.e5. PubMed ID: 30098700
    [Abstract] [Full Text] [Related]

  • 4. Prevalence and associated phenotypes of DUSP6, IL17RD and SPRY4 variants in a large Chinese cohort with isolated hypogonadotropic hypogonadism.
    Men M, Wang X, Wu J, Zeng W, Jiang F, Zheng R, Li JD.
    J Med Genet; 2021 Jan; 58(1):66-72. PubMed ID: 32389901
    [Abstract] [Full Text] [Related]

  • 5. [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
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. 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
    [Abstract] [Full Text] [Related]

  • 9. 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 01; 9(2):95-100. PubMed ID: 28008864
    [Abstract] [Full Text] [Related]

  • 10. Nonsense mutations in FGF8 gene causing different degrees of human gonadotropin-releasing deficiency.
    Trarbach EB, Abreu AP, Silveira LF, Garmes HM, Baptista MT, Teles MG, Costa EM, Mohammadi M, Pitteloud N, Mendonca BB, Latronico AC.
    J Clin Endocrinol Metab; 2010 Jul 01; 95(7):3491-6. PubMed ID: 20463092
    [Abstract] [Full Text] [Related]

  • 11. 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 01; 92(3):1155-8. PubMed ID: 17200176
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  • 13. 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 01; 129(6):457-463. PubMed ID: 32485746
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  • 15. A female patient with normosmic idiopathic hypogonadotropic hypogonadism carrying a novel mutation in FGFR1.
    Wang XL, Wang DD, Gu JQ, Zhang N, Shan ZY.
    Genet Mol Res; 2014 Nov 11; 13(4):9472-6. PubMed ID: 25501157
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  • 18. Phenotypic Spectrum of Idiopathic Hypogonadotropic Hypogonadism Patients With CHD7 Variants From a Large Chinese Cohort.
    Li JD, Wu J, Zhao Y, Wang X, Jiang F, Hou Q, Chen DN, Zheng R, Yu R, Zhou W, Men M.
    J Clin Endocrinol Metab; 2020 May 01; 105(5):. PubMed ID: 31689711
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