BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

308 related articles for article (PubMed ID: 19489874)

  • 21. Paediatric phenotype of Kallmann syndrome due to mutations of fibroblast growth factor receptor 1 (FGFR1).
    Zenaty D; Bretones P; Lambe C; Guemas I; David M; Léger J; de Roux N
    Mol Cell Endocrinol; 2006 Jul; 254-255():78-83. PubMed ID: 16757108
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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]  

  • 23. Loss of function mutations of the GnRH receptor: a new cause of hypogonadotropic hypogonadism.
    de Roux N; Young J; Misrahi M; Schaison G; Milgrom E
    J Pediatr Endocrinol Metab; 1999 Apr; 12 Suppl 1():267-75. PubMed ID: 10698591
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2).
    Albuisson J; Pêcheux C; Carel JC; Lacombe D; Leheup B; Lapuzina P; Bouchard P; Legius E; Matthijs G; Wasniewska M; Delpech M; Young J; Hardelin JP; Dodé C
    Hum Mutat; 2005 Jan; 25(1):98-9. PubMed ID: 15605412
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism.
    Pitteloud N; Quinton R; Pearce S; Raivio T; Acierno J; Dwyer A; Plummer L; Hughes V; Seminara S; Cheng YZ; Li WP; Maccoll G; Eliseenkova AV; Olsen SK; Ibrahimi OA; Hayes FJ; Boepple P; Hall JE; Bouloux P; Mohammadi M; Crowley W
    J Clin Invest; 2007 Feb; 117(2):457-63. PubMed ID: 17235395
    [TBL] [Abstract][Full Text] [Related]  

  • 26. [Molecular genetics of Kallmann syndrome: an update].
    Fu C; Feng Z; Liu RZ
    Zhonghua Nan Ke Xue; 2011 Apr; 17(4):361-5. PubMed ID: 21548217
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. The role of gene defects underlying isolated hypogonadotropic hypogonadism in patients with constitutional delay of growth and puberty.
    Vaaralahti K; Wehkalampi K; Tommiska J; Laitinen EM; Dunkel L; Raivio T
    Fertil Steril; 2011 Jun; 95(8):2756-8. PubMed ID: 21292259
    [TBL] [Abstract][Full Text] [Related]  

  • 29. [Genetic anomalies of the gonadotropic axis].
    de Roux N; Morel Y; Hardelin JP
    Rev Prat; 1999 Jun; 49(12):1277-82. PubMed ID: 10488658
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Hypogonadotropic hypogonadism.
    Layman LC
    Endocrinol Metab Clin North Am; 2007 Jun; 36(2):283-96. PubMed ID: 17543719
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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]  

  • 32. The genetics of hypogonadotropic hypogonadism.
    Bhagavath B; Layman LC
    Semin Reprod Med; 2007 Jul; 25(4):272-86. PubMed ID: 17594608
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Expanding the genetic spectrum of ANOS1 mutations in patients with congenital hypogonadotropic hypogonadism.
    Gonçalves CI; Fonseca F; Borges T; Cunha F; Lemos MC
    Hum Reprod; 2017 Mar; 32(3):704-711. PubMed ID: 28122887
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Isolated cryptorchidism: no evidence for involvement of genes underlying isolated hypogonadotropic hypogonadism.
    Laitinen EM; Tommiska J; Virtanen HE; Oehlandt H; Koivu R; Vaaralahti K; Toppari J; Raivio T
    Mol Cell Endocrinol; 2011 Jul; 341(1-2):35-8. PubMed ID: 21664240
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Multiplex ligation-dependent probe amplification detects DCX gene deletions in band heterotopia.
    Mei D; Parrini E; Pasqualetti M; Tortorella G; Franzoni E; Giussani U; Marini C; Migliarini S; Guerrini R
    Neurology; 2007 Feb; 68(6):446-50. PubMed ID: 17283321
    [TBL] [Abstract][Full Text] [Related]  

  • 36. High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome.
    Aretz S; Stienen D; Uhlhaas S; Loff S; Back W; Pagenstecher C; McLeod DR; Graham GE; Mangold E; Santer R; Propping P; Friedl W
    Hum Mutat; 2005 Dec; 26(6):513-9. PubMed ID: 16287113
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Reversible congenital hypogonadotropic hypogonadism in patients with CHD7, FGFR1 or GNRHR mutations.
    Laitinen EM; Tommiska J; Sane T; Vaaralahti K; Toppari J; Raivio T
    PLoS One; 2012; 7(6):e39450. PubMed ID: 22724017
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Genetics of congenital hypogonadotropic hypogonadism in Denmark.
    Tommiska J; Känsäkoski J; Christiansen P; Jørgensen N; Lawaetz JG; Juul A; Raivio T
    Eur J Med Genet; 2014 Jul; 57(7):345-8. PubMed ID: 24732674
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Genetic analysis in patients with Kallmann syndrome: coexistence of mutations in prokineticin receptor 2 and KAL1.
    Canto P; Munguía P; Söderlund D; Castro JJ; Méndez JP
    J Androl; 2009; 30(1):41-5. PubMed ID: 18723471
    [TBL] [Abstract][Full Text] [Related]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 16.