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Journal Abstract Search

126 related items for PubMed ID: 23657145

  • 1. Submicroscopic deletion involving the fibroblast growth factor receptor 1 gene in a patient with combined pituitary hormone deficiency.
    Fukami M, Iso M, Sato N, Igarashi M, Seo M, Kazukawa I, Kinoshita E, Dateki S, Ogata T.
    Endocr J; 2013; 60(8):1013-20. PubMed ID: 23657145
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  • 7. [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
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  • 12. HESX1 mutations in patients with congenital hypopituitarism: variable phenotypes with the same genotype.
    Fang Q, Benedetti AF, Ma Q, Gregory L, Li JZ, Dattani M, Sadeghi-Nejad A, Arnhold IJ, Mendonca BB, Camper SA, Carvalho LR.
    Clin Endocrinol (Oxf); 2016 Sep; 85(3):408-14. PubMed ID: 27000987
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  • 13. 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
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  • 14. Rare Frequency of Mutations in Pituitary Transcription Factor Genes in Combined Pituitary Hormone or Isolated Growth Hormone Deficiencies in Korea.
    Choi JH, Jung CW, Kang E, Kim YM, Heo SH, Lee BH, Kim GH, Yoo HW.
    Yonsei Med J; 2017 May; 58(3):527-532. PubMed ID: 28332357
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  • 15. Combined pituitary hormone deficiency in a patient with an FGFR1 missense variant: case report and literature review.
    Sano S, Masunaga Y, Kato F, Fujisawa Y, Saitsu H, Ogata T.
    Clin Pediatr Endocrinol; 2022 May; 31(3):172-177. PubMed ID: 35928375
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  • 16. Screening of autosomal gene deletions in patients with hypogonadotropic hypogonadism using multiplex ligation-dependent probe amplification: detection of a hemizygosis for the fibroblast growth factor receptor 1.
    Trarbach EB, Teles MG, Costa EM, Abreu AP, Garmes HM, Guerra G, Baptista MT, de Castro M, Mendonca BB, Latronico AC.
    Clin Endocrinol (Oxf); 2010 Mar; 72(3):371-6. PubMed ID: 19489874
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  • 19. 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
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  • 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 01; 113(1):158-166. PubMed ID: 31748124
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