345 related articles for article (PubMed ID: 28915117)
1. Molecular genetic and clinical delineation of 22 patients with congenital hypogonadotropic hypogonadism.
Aoyama K; Mizuno H; Tanaka T; Togawa T; Negishi Y; Ohashi K; Hori I; Izawa M; Hamajima T; Saitoh S
J Pediatr Endocrinol Metab; 2017 Oct; 30(10):1111-1118. PubMed ID: 28915117
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. GnRH Deficient Patients With Congenital Hypogonadotropic Hypogonadism: Novel Genetic Findings in
Neocleous V; Fanis P; Toumba M; Tanteles GA; Schiza M; Cinarli F; Nicolaides NC; Oulas A; Spyrou GM; Mantzoros CS; Vlachakis D; Skordis N; Phylactou LA
Front Endocrinol (Lausanne); 2020; 11():626. PubMed ID: 32982993
[No Abstract] [Full Text] [Related]
5. The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.
Marcos S; Sarfati J; Leroy C; Fouveaut C; Parent P; Metz C; Wolczynski S; Gérard M; Bieth E; Kurtz F; Verier-Mine O; Perrin L; Archambeaud F; Cabrol S; Rodien P; Hove H; Prescott T; Lacombe D; Christin-Maitre S; Touraine P; Hieronimus S; Dewailly D; Young J; Pugeat M; Hardelin JP; Dodé C
J Clin Endocrinol Metab; 2014 Oct; 99(10):E2138-43. PubMed ID: 25077900
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8.
Zeng W; Li J; Wang X; Jiang F; Men M
Zhong Nan Da Xue Xue Bao Yi Xue Ban; 2022 Jul; 47(7):847-857. PubMed ID: 36039580
[TBL] [Abstract][Full Text] [Related]
9. Congenital Hypogonadotropic Hypogonadism with Anosmia and Gorlin Features Caused by a PTCH1 Mutation Reveals a New Candidate Gene for Kallmann Syndrome.
Barraud S; Delemer B; Poirsier-Violle C; Bouligand J; Mérol JC; Grange F; Higel-Chaufour B; Decoudier B; Zalzali M; Dwyer AA; Acierno JS; Pitteloud N; Millar RP; Young J
Neuroendocrinology; 2021; 111(1-2):99-114. PubMed ID: 32074614
[TBL] [Abstract][Full Text] [Related]
10. Kallmann syndrome in women: from genes to diagnosis and treatment.
Meczekalski B; Podfigurna-Stopa A; Smolarczyk R; Katulski K; Genazzani AR
Gynecol Endocrinol; 2013 Apr; 29(4):296-300. PubMed ID: 23368665
[TBL] [Abstract][Full Text] [Related]
11. CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome.
Jongmans MC; van Ravenswaaij-Arts CM; Pitteloud N; Ogata T; Sato N; Claahsen-van der Grinten HL; van der Donk K; Seminara S; Bergman JE; Brunner HG; Crowley WF; Hoefsloot LH
Clin Genet; 2009 Jan; 75(1):65-71. PubMed ID: 19021638
[TBL] [Abstract][Full Text] [Related]
12. Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
Kim HG; Kurth I; Lan F; Meliciani I; Wenzel W; Eom SH; Kang GB; Rosenberger G; Tekin M; Ozata M; Bick DP; Sherins RJ; Walker SL; Shi Y; Gusella JF; Layman LC
Am J Hum Genet; 2008 Oct; 83(4):511-9. PubMed ID: 18834967
[TBL] [Abstract][Full Text] [Related]
13. [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]
14. 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]
15. [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]
16. Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform.
Gonçalves C; Bastos M; Pignatelli D; Borges T; Aragüés JM; Fonseca F; Pereira BD; Socorro S; Lemos MC
Fertil Steril; 2015 Nov; 104(5):1261-7.e1. PubMed ID: 26277103
[TBL] [Abstract][Full Text] [Related]
17. Clinical genetics of Kallmann syndrome.
Dodé C; Hardelin JP
Ann Endocrinol (Paris); 2010 May; 71(3):149-57. PubMed ID: 20362962
[TBL] [Abstract][Full Text] [Related]
18. Kallmann's syndrome: a comparison of the reproductive phenotypes in men carrying KAL1 and FGFR1/KAL2 mutations.
Salenave S; Chanson P; Bry H; Pugeat M; Cabrol S; Carel JC; Murat A; Lecomte P; Brailly S; Hardelin JP; Dodé C; Young J
J Clin Endocrinol Metab; 2008 Mar; 93(3):758-63. PubMed ID: 18160472
[TBL] [Abstract][Full Text] [Related]
19. Additional mutation in
Ichioka K; Yoshikawa T; Kimura H; Saito R
BMJ Case Rep; 2024 Jan; 17(1):. PubMed ID: 38272512
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
