BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

216 related articles for article (PubMed ID: 23349759)

  • 1. Two families with normosmic congenital hypogonadotropic hypogonadism and biallelic mutations in KISS1R (KISS1 receptor): clinical evaluation and molecular characterization of a novel mutation.
    Brioude F; Bouligand J; Francou B; Fagart J; Roussel R; Viengchareun S; Combettes L; Brailly-Tabard S; Lombès M; Young J; Guiochon-Mantel A
    PLoS One; 2013; 8(1):e53896. PubMed ID: 23349759
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Prevalence of KISS1 Receptor mutations in a series of 603 patients with normosmic congenital hypogonadotrophic hypogonadism and characterization of novel mutations: a single-centre study.
    Francou B; Paul C; Amazit L; Cartes A; Bouvattier C; Albarel F; Maiter D; Chanson P; Trabado S; Brailly-Tabard S; Brue T; Guiochon-Mantel A; Young J; Bouligand J
    Hum Reprod; 2016 Jun; 31(6):1363-74. PubMed ID: 27094476
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Complete Kisspeptin Receptor Inactivation Does Not Impede Exogenous GnRH-Induced LH Surge in Humans.
    Hugon-Rodin J; Yoshii K; Lahlou N; Flandrin J; Gompel A; de Roux N
    J Clin Endocrinol Metab; 2018 Dec; 103(12):4482-4490. PubMed ID: 30124894
    [TBL] [Abstract][Full Text] [Related]  

  • 4. An Isolated Hypogonadotropic Hypogonadism due to a L102P Inactivating Mutation of KISS1R/GPR54 in a Large Family.
    Alzahrani AJ; Ahmad A; Alhazmi T; Ahmad L
    Case Rep Pediatr; 2019; 2019():3814525. PubMed ID: 31885997
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Normosmic congenital hypogonadotropic hypogonadism due to TAC3/TACR3 mutations: characterization of neuroendocrine phenotypes and novel mutations.
    Francou B; Bouligand J; Voican A; Amazit L; Trabado S; Fagart J; Meduri G; Brailly-Tabard S; Chanson P; Lecomte P; Guiochon-Mantel A; Young J
    PLoS One; 2011; 6(10):e25614. PubMed ID: 22031817
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Nonstop mutation in the Kisspeptin 1 receptor (KISS1R) gene causes normosmic congenital hypogonadotropic hypogonadism.
    Moalla M; Hadj Kacem F; Al-Mutery AF; Mahfood M; Mejdoub-Rekik N; Abid M; Mnif-Feki M; Hadj Kacem H
    J Assist Reprod Genet; 2019 Jun; 36(6):1273-1280. PubMed ID: 31073722
    [TBL] [Abstract][Full Text] [Related]  

  • 7. R31C GNRH1 mutation and congenital hypogonadotropic hypogonadism.
    Maione L; Albarel F; Bouchard P; Gallant M; Flanagan CA; Bobe R; Cohen-Tannoudji J; Pivonello R; Colao A; Brue T; Millar RP; Lombes M; Young J; Guiochon-Mantel A; Bouligand J
    PLoS One; 2013; 8(7):e69616. PubMed ID: 23936060
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A novel homozygous splice acceptor site mutation of KISS1R in two siblings with normosmic isolated hypogonadotropic hypogonadism.
    Teles MG; Trarbach EB; Noel SD; Guerra-Junior G; Jorge A; Beneduzzi D; Bianco SD; Mukherjee A; Baptista MT; Costa EM; De Castro M; Mendonça BB; Kaiser UB; Latronico AC
    Eur J Endocrinol; 2010 Jul; 163(1):29-34. PubMed ID: 20371656
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Three Siblings with Idiopathic Hypogonadotropic Hypogonadism in a Nonconsanguineous Family: A Novel
    Nalbantoğlu Ö; Arslan G; Köprülü Ö; Hazan F; Gürsoy S; Özkan B
    J Clin Res Pediatr Endocrinol; 2019 Nov; 11(4):444-448. PubMed ID: 30905142
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mutations of the KISS1 gene in disorders of puberty.
    Silveira LG; Noel SD; Silveira-Neto AP; Abreu AP; Brito VN; Santos MG; Bianco SD; Kuohung W; Xu S; Gryngarten M; Escobar ME; Arnhold IJ; Mendonca BB; Kaiser UB; Latronico AC
    J Clin Endocrinol Metab; 2010 May; 95(5):2276-80. PubMed ID: 20237166
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel severe N-terminal splice site KISS1R gene mutation causes hypogonadotropic hypogonadism but enables a normal development of neonatal external genitalia.
    Breuer O; Abdulhadi-Atwan M; Zeligson S; Fridman H; Renbaum P; Levy-Lahad E; Zangen DH
    Eur J Endocrinol; 2012 Aug; 167(2):209-16. PubMed ID: 22619348
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A novel loss-of-function mutation in GPR54/KISS1R leads to hypogonadotropic hypogonadism in a highly consanguineous family.
    Nimri R; Lebenthal Y; Lazar L; Chevrier L; Phillip M; Bar M; Hernandez-Mora E; de Roux N; Gat-Yablonski G
    J Clin Endocrinol Metab; 2011 Mar; 96(3):E536-45. PubMed ID: 21193544
    [TBL] [Abstract][Full Text] [Related]  

  • 13. PRR repeats in the intracellular domain of KISS1R are important for its export to cell membrane.
    Chevrier L; de Brevern A; Hernandez E; Leprince J; Vaudry H; Guedj AM; de Roux N
    Mol Endocrinol; 2013 Jun; 27(6):1004-14. PubMed ID: 23608644
    [TBL] [Abstract][Full Text] [Related]  

  • 14. GnRH Neuron-Specific Ablation of Gαq/11 Results in Only Partial Inactivation of the Neuroendocrine-Reproductive Axis in Both Male and Female Mice: In Vivo Evidence for Kiss1r-Coupled Gαq/11-Independent GnRH Secretion.
    Babwah AV; Navarro VM; Ahow M; Pampillo M; Nash C; Fayazi M; Calder M; Elbert A; Urbanski HF; Wettschureck N; Offermanns S; Carroll RS; Bhattacharya M; Tobet SA; Kaiser UB
    J Neurosci; 2015 Sep; 35(37):12903-16. PubMed ID: 26377475
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Genetics of ncHH: from a peculiar inheritance of a novel GNRHR mutation to a comprehensive review of the literature.
    Cioppi F; Riera-Escamilla A; Manilall A; Guarducci E; Todisco T; Corona G; Colombo F; Bonomi M; Flanagan CA; Krausz C
    Andrology; 2019 Jan; 7(1):88-101. PubMed ID: 30575316
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Molecular defects of the GnRH-receptor gene in Chinese patients with idiopathic hypogonadotropic hypogonadism and the severity of hypogonadism.
    Fathi AK; Hu S; Fu X; Huang S; Liang Y; Ning Q; Luo X
    J Pediatr Endocrinol Metab; 2012; 25(7-8):659-68. PubMed ID: 23155690
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Kisspeptin and leptin in the regulation of fertility].
    Pankov YA
    Mol Biol (Mosk); 2015; 49(5):707-15. PubMed ID: 26510589
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Normosmic idiopathic hypogonadotropic hypogonadism due to a novel homozygous nonsense c.C969A (p.Y323X) mutation in the KISS1R gene in three unrelated families.
    Demirbilek H; Ozbek MN; Demir K; Kotan LD; Cesur Y; Dogan M; Temiz F; Mengen E; Gurbuz F; Yuksel B; Topaloglu AK
    Clin Endocrinol (Oxf); 2015 Mar; 82(3):429-38. PubMed ID: 25262569
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Two novel mutations in the gonadotropin-releasing hormone receptor gene in Brazilian patients with hypogonadotropic hypogonadism and normal olfaction.
    Costa EM; Bedecarrats GY; Mendonca BB; Arnhold IJ; Kaiser UB; Latronico AC
    J Clin Endocrinol Metab; 2001 Jun; 86(6):2680-6. PubMed ID: 11397871
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Congenital hypogonadotropic hypogonadism due to GnRH receptor mutations in three brothers reveal sites affecting conformation and coupling.
    Tello JA; Newton CL; Bouligand J; Guiochon-Mantel A; Millar RP; Young J
    PLoS One; 2012; 7(6):e38456. PubMed ID: 22679506
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.