These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

159 related articles for article (PubMed ID: 18987493)

  • 1. The role of SOX2 in hypogonadotropic hypogonadism.
    Tziaferi V; Kelberman D; Dattani MT
    Sex Dev; 2008; 2(4-5):194-9. PubMed ID: 18987493
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A novel heterozygous SOX2 mutation causing congenital bilateral anophthalmia, hypogonadotropic hypogonadism and growth hormone deficiency.
    Macchiaroli A; Kelberman D; Auriemma RS; Drury S; Islam L; Giangiobbe S; Ironi G; Lench N; Sowden JC; Colao A; Pivonello R; Cavallo L; Gasperi M; Faienza MF
    Gene; 2014 Jan; 534(2):282-5. PubMed ID: 24211324
    [TBL] [Abstract][Full Text] [Related]  

  • 3. SOX2 regulates the hypothalamic-pituitary axis at multiple levels.
    Jayakody SA; Andoniadou CL; Gaston-Massuet C; Signore M; Cariboni A; Bouloux PM; Le Tissier P; Pevny LH; Dattani MT; Martinez-Barbera JP
    J Clin Invest; 2012 Oct; 122(10):3635-46. PubMed ID: 22945632
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans.
    Kelberman D; Rizzoti K; Avilion A; Bitner-Glindzicz M; Cianfarani S; Collins J; Chong WK; Kirk JM; Achermann JC; Ross R; Carmignac D; Lovell-Badge R; Robinson IC; Dattani MT
    J Clin Invest; 2006 Sep; 116(9):2442-55. PubMed ID: 16932809
    [TBL] [Abstract][Full Text] [Related]  

  • 5. SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development.
    Kelberman D; de Castro SC; Huang S; Crolla JA; Palmer R; Gregory JW; Taylor D; Cavallo L; Faienza MF; Fischetto R; Achermann JC; Martinez-Barbera JP; Rizzoti K; Lovell-Badge R; Robinson IC; Gerrelli D; Dattani MT
    J Clin Endocrinol Metab; 2008 May; 93(5):1865-73. PubMed ID: 18285410
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 64(8):813-817. PubMed ID: 28659543
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring.
    Stark Z; Storen R; Bennetts B; Savarirayan R; Jamieson RV
    Eur J Hum Genet; 2011 Jul; 19(7):753-6. PubMed ID: 21326281
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A novel mutation in SOX2 causes hypogonadotropic hypogonadism with mild ocular malformation.
    Takagi M; Narumi S; Asakura Y; Muroya K; Hasegawa Y; Adachi M; Hasegawa T
    Horm Res Paediatr; 2014; 81(2):133-8. PubMed ID: 24457197
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Hypogonadotropic hypogonadism in an adult female with a heterozygous hypomorphic mutation of SOX2.
    Sato N; Kamachi Y; Kondoh H; Shima Y; Morohashi K; Horikawa R; Ogata T
    Eur J Endocrinol; 2007 Feb; 156(2):167-71. PubMed ID: 17287405
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Hypogonadotropic hypogonadism.
    Silveira LF; MacColl GS; Bouloux PM
    Semin Reprod Med; 2002 Nov; 20(4):327-38. PubMed ID: 12536356
    [TBL] [Abstract][Full Text] [Related]  

  • 11. SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant.
    Errichiello E; Gorgone C; Giuliano L; Iadarola B; Cosentino E; Rossato M; Kurtas NE; Delledonne M; Mattina T; Zuffardi O
    Eur J Med Genet; 2018 Jun; 61(6):335-340. PubMed ID: 29371155
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Genetic insights into human isolated gonadotropin deficiency.
    Trarbach EB; Silveira LG; Latronico AC
    Pituitary; 2007; 10(4):381-91. PubMed ID: 17624596
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Hypopituitarism oddities: congenital causes.
    Kelberman D; Dattani MT
    Horm Res; 2007; 68 Suppl 5():138-44. PubMed ID: 18174732
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Hypopituitarism.
    Ascoli P; Cavagnini F
    Pituitary; 2006; 9(4):335-42. PubMed ID: 17077946
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Heterozygous mutations in SOX2 may cause idiopathic hypogonadotropic hypogonadism via dominant-negative mechanisms.
    Cassin J; Stamou MI; Keefe KW; Sung KE; Bojo CC; Tonsfeldt KJ; Rojas RA; Ferreira Lopes V; Plummer L; Salnikov KB; Keefe DL; Ozata M; Genel M; Georgopoulos NA; Hall JE; Crowley WF; Seminara SB; Mellon PL; Balasubramanian R
    JCI Insight; 2023 Feb; 8(3):. PubMed ID: 36602867
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Physiologic and genetic insights into the pathophysiology and management of hypogonadotropic hypogonadism.
    Hall JE
    Ann Endocrinol (Paris); 1999 Jul; 60(2):93-101. PubMed ID: 10456179
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The Genetic Backdrop of Hypogonadotropic Hypogonadism.
    Szeliga A; Kunicki M; Maciejewska-Jeske M; Rzewuska N; Kostrzak A; Meczekalski B; Bala G; Smolarczyk R; Adashi EY
    Int J Mol Sci; 2021 Dec; 22(24):. PubMed ID: 34948037
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma.
    Blackburn PR; Chacon-Camacho OF; Ortiz-González XR; Reyes M; Lopez-Uriarte GA; Zarei S; Bhoj EJ; Perez-Solorzano S; Vaubel RA; Murphree MI; Nava J; Cortes-Gonzalez V; Parisi JE; Villanueva-Mendoza C; Tirado-Torres IG; Li D; Klee EW; Pichurin PN; Zenteno JC
    Am J Med Genet A; 2018 Dec; 176(12):2710-2719. PubMed ID: 30450772
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Congenital idiopathic hypogonadotropic hypogonadism: evidence of defects in the hypothalamus, pituitary, and testes.
    Sykiotis GP; Hoang XH; Avbelj M; Hayes FJ; Thambundit A; Dwyer A; Au M; Plummer L; Crowley WF; Pitteloud N
    J Clin Endocrinol Metab; 2010 Jun; 95(6):3019-27. PubMed ID: 20382682
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Combined hypothalamic-pituitary-gonadal defect in a hypogonadic man with a novel mutation in the DAX-1 gene.
    Caron P; Imbeaud S; Bennet A; Plantavid M; Camerino G; Rochiccioli P
    J Clin Endocrinol Metab; 1999 Oct; 84(10):3563-9. PubMed ID: 10522996
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.