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Journal Abstract Search

247 related items for PubMed ID: 25064402

  • 1. Genome-wide copy number analysis and systematic mutation screening in 58 patients with hypogonadotropic hypogonadism.
    Izumi Y, Suzuki E, Kanzaki S, Yatsuga S, Kinjo S, Igarashi M, Maruyama T, Sano S, Horikawa R, Sato N, Nakabayashi K, Hata K, Umezawa A, Ogata T, Yoshimura Y, Fukami M.
    Fertil Steril; 2014 Oct; 102(4):1130-1136.e3. PubMed ID: 25064402
    [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. 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 Nov; 60(8):1013-20. PubMed ID: 23657145
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. GnRH Deficient Patients With Congenital Hypogonadotropic Hypogonadism: Novel Genetic Findings in ANOS1, RNF216, WDR11, FGFR1, CHD7, and POLR3A Genes in a Case Series and Review of the Literature.
    Neocleous V, Fanis P, Toumba M, Tanteles GA, Schiza M, Cinarli F, Nicolaides NC, Oulas A, Spyrou GM, Mantzoros CS, Vlachakis D, Skordis N, Phylactou LA.
    Front Endocrinol (Lausanne); 2020 Mar; 11():626. PubMed ID: 32982993
    [Abstract] [Full Text] [Related]

  • 6. Molecular basis of non-syndromic hypospadias: systematic mutation screening and genome-wide copy-number analysis of 62 patients.
    Kon M, Suzuki E, Dung VC, Hasegawa Y, Mitsui T, Muroya K, Ueoka K, Igarashi N, Nagasaki K, Oto Y, Hamajima T, Yoshino K, Igarashi M, Kato-Fukui Y, Nakabayashi K, Hayashi K, Hata K, Matsubara Y, Moriya K, Ogata T, Nonomura K, Fukami M.
    Hum Reprod; 2015 Mar; 30(3):499-506. PubMed ID: 25605705
    [Abstract] [Full Text] [Related]

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

  • 8. [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]

  • 9. Mutation and gene copy number analyses of six pituitary transcription factor genes in 71 patients with combined pituitary hormone deficiency: identification of a single patient with LHX4 deletion.
    Dateki S, Fukami M, Uematsu A, Kaji M, Iso M, Ono M, Mizota M, Yokoya S, Motomura K, Kinoshita E, Moriuchi H, Ogata T.
    J Clin Endocrinol Metab; 2010 Aug; 95(8):4043-7. PubMed ID: 20534763
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. 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
    [Abstract] [Full Text] [Related]

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  • 13. A novel mutation in SOX3 polyalanine tract: a case of Kabuki syndrome with combined pituitary hormone deficiency harboring double mutations in MLL2 and SOX3.
    Takagi M, Ishii T, Torii C, Kosaki K, Hasegawa T.
    Pituitary; 2014 Dec 01; 17(6):569-74. PubMed ID: 24346842
    [Abstract] [Full Text] [Related]

  • 14. Rare variant of the epigenetic regulator SMCHD1 in a patient with pituitary hormone deficiency.
    Kinjo K, Nagasaki K, Muroya K, Suzuki E, Ishiwata K, Nakabayashi K, Hattori A, Nagao K, Nozawa RS, Obuse C, Miyado K, Ogata T, Fukami M, Miyado M.
    Sci Rep; 2020 Jul 03; 10(1):10985. PubMed ID: 32620854
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  • 16. SOX2 nonsense mutation in a patient clinically diagnosed with non-syndromic hypogonadotropic hypogonadism.
    Shima H, Ishii A, Wada Y, Kizawa J, Yokoi T, Azuma N, Matsubara Y, Suzuki E, Nakamura A, Narumi S, Fukami M.
    Endocr J; 2017 Aug 30; 64(8):813-817. PubMed ID: 28659543
    [Abstract] [Full Text] [Related]

  • 17. 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 Aug 30; 13(2):280-5. PubMed ID: 24776628
    [Abstract] [Full Text] [Related]

  • 18. 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 01; 516(1):146-51. PubMed ID: 23276709
    [Abstract] [Full Text] [Related]

  • 19. Mutations Within the Transcription Factor PROP1 in a Cohort of Turkish Patients with Combined Pituitary Hormone Deficiency.
    Bulut FD, Özdemir Dilek S, Kotan D, Mengen E, Gürbüz F, Yüksel B.
    J Clin Res Pediatr Endocrinol; 2020 Sep 02; 12(3):261-268. PubMed ID: 31948187
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