188 related articles for article (PubMed ID: 32060892)
1. Functional analysis of SEMA3A variants identified in Chinese patients with isolated hypogonadotropic hypogonadism.
Dai W; Li JD; Zhao Y; Wu J; Jiang F; Chen DN; Zheng R; Men M
Clin Genet; 2020 May; 97(5):696-703. PubMed ID: 32060892
[TBL] [Abstract][Full Text] [Related]
2. Mutation screening of SEMA3A and SEMA7A in patients with congenital hypogonadotropic hypogonadism.
Känsäkoski J; Fagerholm R; Laitinen EM; Vaaralahti K; Hackman P; Pitteloud N; Raivio T; Tommiska J
Pediatr Res; 2014 May; 75(5):641-4. PubMed ID: 24522099
[TBL] [Abstract][Full Text] [Related]
3. Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism.
Pitteloud N; Zhang C; Pignatelli D; Li JD; Raivio T; Cole LW; Plummer L; Jacobson-Dickman EE; Mellon PL; Zhou QY; Crowley WF
Proc Natl Acad Sci U S A; 2007 Oct; 104(44):17447-52. PubMed ID: 17959774
[TBL] [Abstract][Full Text] [Related]
4. Analysis of PLXNA1, NRP1, and NRP2 variants in a cohort of patients with isolated hypogonadotropic hypogonadism.
Men M; Chen DN; Li JD; Wang X; Zeng W; Jiang F; Zheng R; Dai W
Mol Genet Genomic Med; 2021 Nov; 9(11):e1816. PubMed ID: 34636164
[TBL] [Abstract][Full Text] [Related]
5. Idiopathic gonadotrophin deficiency: genetic questions addressed through phenotypic characterization.
Quinton R; Duke VM; Robertson A; Kirk JM; Matfin G; de Zoysa PA; Azcona C; MacColl GS; Jacobs HS; Conway GS; Besser M; Stanhope RG; Bouloux PM
Clin Endocrinol (Oxf); 2001 Aug; 55(2):163-74. PubMed ID: 11531922
[TBL] [Abstract][Full Text] [Related]
6. Discovery of a Novel Variant of SEMA3A in a Chinese Patient with Isolated Hypogonadotropic Hypogonadism.
Dai W; Li JD; Wang X; Zeng W; Jiang F; Zheng R
Int J Endocrinol; 2021; 2021():7752526. PubMed ID: 34721574
[TBL] [Abstract][Full Text] [Related]
7. Spectrum of phenotype and genotype of congenital isolated hypogonadotropic hypogonadism in Asian Indians.
Nair S; Jadhav S; Lila A; Jagtap V; Bukan A; Pandit R; Ekbote A; Dharmalingam M; Kumar P; Kalra P; Gandhi P; Walia R; Sankhe S; Raghavan V; Shivane V; Menon P; Bandgar T; Shah N
Clin Endocrinol (Oxf); 2016 Jul; 85(1):100-9. PubMed ID: 26708526
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Further delineation of a recognizable type of syndromic short stature caused by biallelic SEMA3A loss-of-function variants.
Gileta AF; Helgeson ML; Leonard JMM; Pyle LC; Subramanian HP; Arndt K; Hawkes CP; Del Gaudio D
Am J Med Genet A; 2021 Mar; 185(3):889-893. PubMed ID: 33369061
[TBL] [Abstract][Full Text] [Related]
10. Prevalence of pathogenic variants and digenic disease in patients diagnosed with normosmic hypogonadotropic hypogonadism/Kallmann Syndrome.
Poch A; Dougherty MP; Roman RA; Chorich L; Hawkins Z; Kim SH; Kim HG; Layman LC
Mol Cell Endocrinol; 2024 Aug; 589():112224. PubMed ID: 38593951
[TBL] [Abstract][Full Text] [Related]
11. Defective gonadotropin-releasing hormone neuron migration in mice lacking SEMA3A signalling through NRP1 and NRP2: implications for the aetiology of hypogonadotropic hypogonadism.
Cariboni A; Davidson K; Rakic S; Maggi R; Parnavelas JG; Ruhrberg C
Hum Mol Genet; 2011 Jan; 20(2):336-44. PubMed ID: 21059704
[TBL] [Abstract][Full Text] [Related]
12. Clinical, hormonal, and genetic characteristics of 25 Chinese patients with idiopathic hypogonadotropic hypogonadism.
Liu Q; Yin X; Li P
BMC Endocr Disord; 2022 Jan; 22(1):30. PubMed ID: 35090434
[TBL] [Abstract][Full Text] [Related]
13. Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice.
Falardeau J; Chung WC; Beenken A; Raivio T; Plummer L; Sidis Y; Jacobson-Dickman EE; Eliseenkova AV; Ma J; Dwyer A; Quinton R; Na S; Hall JE; Huot C; Alois N; Pearce SH; Cole LW; Hughes V; Mohammadi M; Tsai P; Pitteloud N
J Clin Invest; 2008 Aug; 118(8):2822-31. PubMed ID: 18596921
[TBL] [Abstract][Full Text] [Related]
14. SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome.
Hanchate NK; Giacobini P; Lhuillier P; Parkash J; Espy C; Fouveaut C; Leroy C; Baron S; Campagne C; Vanacker C; Collier F; Cruaud C; Meyer V; García-Piñero A; Dewailly D; Cortet-Rudelli C; Gersak K; Metz C; Chabrier G; Pugeat M; Young J; Hardelin JP; Prevot V; Dodé C
PLoS Genet; 2012 Aug; 8(8):e1002896. PubMed ID: 22927827
[TBL] [Abstract][Full Text] [Related]
15. Prevalence and associated phenotypes of PLXNA1 variants in normosmic and anosmic idiopathic hypogonadotropic hypogonadism.
Kotan LD; Isik E; Turan I; Mengen E; Akkus G; Tastan M; Gurbuz F; Yuksel B; Topaloglu AK
Clin Genet; 2019 Feb; 95(2):320-324. PubMed ID: 30467832
[TBL] [Abstract][Full Text] [Related]
16. CCDC141 Mutations in Idiopathic Hypogonadotropic Hypogonadism.
Turan I; Hutchins BI; Hacihamdioglu B; Kotan LD; Gurbuz F; Ulubay A; Mengen E; Yuksel B; Wray S; Topaloglu AK
J Clin Endocrinol Metab; 2017 Jun; 102(6):1816-1825. PubMed ID: 28324054
[TBL] [Abstract][Full Text] [Related]
17. Research on the variants of FGFR1 and CEP290 genes in idiopathic hypogonadotropin hypogonadism.
Wang SS; Zhao WY; Wu HX; Shu M; Yuan JX; Fang L; Xu C
Yi Chuan; 2022 Oct; 44(10):937-949. PubMed ID: 36384729
[TBL] [Abstract][Full Text] [Related]
18. [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]
19. Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism.
Pitteloud N; Quinton R; Pearce S; Raivio T; Acierno J; Dwyer A; Plummer L; Hughes V; Seminara S; Cheng YZ; Li WP; Maccoll G; Eliseenkova AV; Olsen SK; Ibrahimi OA; Hayes FJ; Boepple P; Hall JE; Bouloux P; Mohammadi M; Crowley W
J Clin Invest; 2007 Feb; 117(2):457-63. PubMed ID: 17235395
[TBL] [Abstract][Full Text] [Related]
20. Sema3a plays a role in the pathogenesis of CHARGE syndrome.
Ufartes R; Schwenty-Lara J; Freese L; Neuhofer C; Möller J; Wehner P; van Ravenswaaij-Arts CMA; Wong MTY; Schanze I; Tzschach A; Bartsch O; Borchers A; Pauli S
Hum Mol Genet; 2018 Apr; 27(8):1343-1352. PubMed ID: 29432577
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]