136 related articles for article (PubMed ID: 25262569)
1. 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]
2. 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]
3. 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]
4. 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]
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. 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. 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]
8. 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]
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. An uncommon phenotype with familial central hypogonadism caused by a novel PROP1 gene mutant truncated in the transactivation domain.
Reynaud R; Barlier A; Vallette-Kasic S; Saveanu A; Guillet MP; Simonin G; Enjalbert A; Valensi P; Brue T
J Clin Endocrinol Metab; 2005 Aug; 90(8):4880-7. PubMed ID: 15941866
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Familial normosmic idiopathic hypogonadotropic hypogonadism: is there a phenotypic marker for each genetic mutation? Report of three cases and review of literature.
Shekhar S
BMJ Case Rep; 2012 Dec; 2012():. PubMed ID: 23230250
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Coding sequence analysis of GNRHR and GPR54 in patients with congenital and adult-onset forms of hypogonadotropic hypogonadism.
Cerrato F; Shagoury J; Kralickova M; Dwyer A; Falardeau J; Ozata M; Van Vliet G; Bouloux P; Hall JE; Hayes FJ; Pitteloud N; Martin KA; Welt C; Seminara SB
Eur J Endocrinol; 2006 Nov; 155 Suppl 1():S3-S10. PubMed ID: 17074994
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Complete Idiopathic Hypogonadotropic Hypogonadism due to Homozygous GNRH1 Mutations in the Mutational Hot Spots in the Region Encoding the Decapeptide.
Mengen E; Tunc S; Kotan LD; Nalbantoglu O; Demir K; Gurbuz F; Turan I; Seker G; Yuksel B; Topaloglu AK
Horm Res Paediatr; 2016; 85(2):107-11. PubMed ID: 26595427
[TBL] [Abstract][Full Text] [Related]
17. A mutation in the fibroblast growth factor receptor 1 gene causes fully penetrant normosmic isolated hypogonadotropic hypogonadism.
Xu N; Qin Y; Reindollar RH; Tho SP; McDonough PG; Layman LC
J Clin Endocrinol Metab; 2007 Mar; 92(3):1155-8. PubMed ID: 17200176
[TBL] [Abstract][Full Text] [Related]
18. The evaluation of ovarian function in normosmic idiopathic hypogonadotropic hypogonadism with a fibroblast growth factor receptor 1 mutation: a case report.
Wang L; Lai D
Gynecol Endocrinol; 2022 Apr; 38(4):350-353. PubMed ID: 35277108
[TBL] [Abstract][Full Text] [Related]
19. Clinical and molecular characterization of a large sample of patients with hypogonadotropic hypogonadism.
Bhagavath B; Podolsky RH; Ozata M; Bolu E; Bick DP; Kulharya A; Sherins RJ; Layman LC
Fertil Steril; 2006 Mar; 85(3):706-13. PubMed ID: 16500342
[TBL] [Abstract][Full Text] [Related]
20. Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism.
Raivio T; Sidis Y; Plummer L; Chen H; Ma J; Mukherjee A; Jacobson-Dickman E; Quinton R; Van Vliet G; Lavoie H; Hughes VA; Dwyer A; Hayes FJ; Xu S; Sparks S; Kaiser UB; Mohammadi M; Pitteloud N
J Clin Endocrinol Metab; 2009 Nov; 94(11):4380-90. PubMed ID: 19820032
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
