BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

252 related articles for article (PubMed ID: 30905142)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. The GPR54 gene as a regulator of puberty.
    Seminara SB; Messager S; Chatzidaki EE; Thresher RR; Acierno JS; Shagoury JK; Bo-Abbas Y; Kuohung W; Schwinof KM; Hendrick AG; Zahn D; Dixon J; Kaiser UB; Slaugenhaupt SA; Gusella JF; O'Rahilly S; Carlton MB; Crowley WF; Aparicio SA; Colledge WH
    N Engl J Med; 2003 Oct; 349(17):1614-27. PubMed ID: 14573733
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. A Novel
    Zhou P; Wu J
    J Clin Res Pediatr Endocrinol; 2024 Mar; 16(1):91-94. PubMed ID: 35735778
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Inactivating KISS1 mutation and hypogonadotropic hypogonadism.
    Topaloglu AK; Tello JA; Kotan LD; Ozbek MN; Yilmaz MB; Erdogan S; Gurbuz F; Temiz F; Millar RP; Yuksel B
    N Engl J Med; 2012 Feb; 366(7):629-35. PubMed ID: 22335740
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Idiopathic hypogonadotropic hypogonadism caused by compound heterozygosity for two novel mutations in the GNRH1 gene: a case report.
    Tian Q; Tang J; Wang L; Liu J; Li X; Cao Z; Tian Z
    BMC Endocr Disord; 2023 Oct; 23(1):213. PubMed ID: 37798680
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Understanding the functions of kisspeptin and kisspeptin receptor (Kiss1R) from clinical case studies.
    Ke R; Ma X; Lee LTO
    Peptides; 2019 Oct; 120():170019. PubMed ID: 30339828
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Normosmic idiopathic hypogonadotropic hypogonadism due to a novel GNRH1 variant in two siblings.
    Sagi SV; Joshi H; Whiles E; Hikmat M; Puthi VR; MacDougall J; Spiden SL; Fuller G; Park SM; Oyibo SO
    Endocrinol Diabetes Metab Case Rep; 2020 Mar; 2020():. PubMed ID: 32134721
    [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. [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
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 9(2):95-100. PubMed ID: 28008864
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54.
    de Roux N; Genin E; Carel JC; Matsuda F; Chaussain JL; Milgrom E
    Proc Natl Acad Sci U S A; 2003 Sep; 100(19):10972-6. PubMed ID: 12944565
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.