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 *

232 related articles for article (PubMed ID: 22031817)

  • 1. 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]  

  • 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. TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood.
    Gianetti E; Tusset C; Noel SD; Au MG; Dwyer AA; Hughes VA; Abreu AP; Carroll J; Trarbach E; Silveira LF; Costa EM; de Mendonça BB; de Castro M; Lofrano A; Hall JE; Bolu E; Ozata M; Quinton R; Amory JK; Stewart SE; Arlt W; Cole TR; Crowley WF; Kaiser UB; Latronico AC; Seminara SB
    J Clin Endocrinol Metab; 2010 Jun; 95(6):2857-67. PubMed ID: 20332248
    [TBL] [Abstract][Full Text] [Related]  

  • 4. TAC3 and TACR3 defects cause hypothalamic congenital hypogonadotropic hypogonadism in humans.
    Young J; Bouligand J; Francou B; Raffin-Sanson ML; Gaillez S; Jeanpierre M; Grynberg M; Kamenicky P; Chanson P; Brailly-Tabard S; Guiochon-Mantel A
    J Clin Endocrinol Metab; 2010 May; 95(5):2287-95. PubMed ID: 20194706
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [Congenital hypogonadotropic hypogonadism and Kallmann syndrome in males].
    Ghervan C; Young J
    Presse Med; 2014 Feb; 43(2):152-61. PubMed ID: 24456696
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Regional genotypic variations in normosmic congenital hypogonadotropic hypogonadism: our experience and systematic review.
    Patil VA; Lila AR; Shah N; Arya S; Ekbote AV; Sarathi V; Shah R; Jadhav SS; Memon SS; Bandgar T
    Pituitary; 2022 Jun; 25(3):444-453. PubMed ID: 35133534
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Similarities and differences in the reproductive phenotypes of women with congenital hypogonadotrophic hypogonadism caused by GNRHR mutations and women with polycystic ovary syndrome.
    Maione L; Fèvre A; Nettore IC; Manilall A; Francou B; Trabado S; Bouligand J; Guiochon-Mantel A; Delemer B; Flanagan CA; Macchia PE; Millar RP; Young J
    Hum Reprod; 2019 Jan; 34(1):137-147. PubMed ID: 30476149
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. [Clinical and molecular aspects of congenital isolated hypogonadotropic hypogonadism].
    Tusset C; Trarbach EB; Silveira LF; Beneduzzi D; Montenegro L; Latronico AC
    Arq Bras Endocrinol Metabol; 2011 Nov; 55(8):501-11. PubMed ID: 22218430
    [TBL] [Abstract][Full Text] [Related]  

  • 11.
    Gonçalves CI; Aragüés JM; Bastos M; Barros L; Vicente N; Carvalho D; Lemos MC
    Endocr Connect; 2017 Aug; 6(6):360-366. PubMed ID: 28611058
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Hypothalamic dysfunction in a female with isolated hypogonadotropic hypogonadism and compound heterozygous TACR3 mutations and clinical manifestation in her heterozygous mother.
    Fukami M; Maruyama T; Dateki S; Sato N; Yoshimura Y; Ogata T
    Horm Res Paediatr; 2010; 73(6):477-81. PubMed ID: 20395662
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Congenital hypogonadotropic hypogonadism in females: clinical spectrum, evaluation and genetics.
    Bry-Gauillard H; Trabado S; Bouligand J; Sarfati J; Francou B; Salenave S; Chanson P; Brailly-Tabard S; Guiochon-Mantel A; Young J
    Ann Endocrinol (Paris); 2010 May; 71(3):158-62. PubMed ID: 20363464
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism.
    Gürbüz F; Kotan LD; Mengen E; Şıklar Z; Berberoğlu M; Dökmetaş S; Kılıçlı MF; Güven A; Kirel B; Saka N; Poyrazoğlu Ş; Cesur Y; Doğan M; Özen S; Özbek MN; Demirbilek H; Kekil MB; Temiz F; Önenli Mungan N; Yüksel B; Topaloğlu AK
    J Clin Res Pediatr Endocrinol; 2012 Sep; 4(3):121-6. PubMed ID: 22766261
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Whole Exome Sequencing Revealed a Novel Nonsense Variant in the GNRHR Gene Causing Normosmic Hypogonadotropic Hypogonadism in a Pakistani Family.
    Hussain HMJ; Murtaza G; Jiang X; Khan R; Khan M; Kakakhel MBS; Khan T; Wahab F; Zhang H; Zhang Y; Khan MB; Ahmed P; Ma H; Xu Z
    Horm Res Paediatr; 2019; 91(1):9-16. PubMed ID: 30947225
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Triallelic digenic mutation in the prokineticin 2 and GNRH receptor genes in two brothers with normosmic congenital hypogonadotropic hypogonadism.
    Méndez JP; Zenteno JC; Coronel A; Soriano-Ursúa MA; Valencia-Villalvazo EY; Soderlund D; Coral-Vázquez RM; Canto P
    Endocr Res; 2015; 40(3):166-71. PubMed ID: 25531638
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 12.