139 related articles for article (PubMed ID: 35670320)
1. Novel homozygous inactivating mutation in the luteinizing hormone receptor gene (
Alla A; Ongoth FEM; Tahiri A; Karrou M; Rouf S; Benhaddou H; Kamaoui I; Mcelreavey K; Latrech H
J Pediatr Endocrinol Metab; 2022 Sep; 35(9):1215-1221. PubMed ID: 35670320
[TBL] [Abstract][Full Text] [Related]
2. Novel compound heterozygous variants in the LHCGR gene identified in a subject with Leydig cell hypoplasia type 1.
Xu Y; Chen Y; Li N; Hu X; Li G; Ding Y; Li J; Shen Y; Wang X; Wang J
J Pediatr Endocrinol Metab; 2018 Jan; 31(2):239-245. PubMed ID: 29305568
[TBL] [Abstract][Full Text] [Related]
3. Novel mutations of the LHCGR gene in two families with 46,XY DSD causing Leydig cell hypoplasia I.
Hassan HA; Essawi ML; Mekkawy MK; Mazen I
Hormones (Athens); 2020 Dec; 19(4):573-579. PubMed ID: 32666356
[TBL] [Abstract][Full Text] [Related]
4. A novel variant in
Aktar Karakaya A; Unal E; Beştaş A; Taş F; Onay H; Haspolat YK
Gynecol Endocrinol; 2020 Dec; 36(12):1136-1139. PubMed ID: 32654531
[TBL] [Abstract][Full Text] [Related]
5. Novel Compound Heterozygous Variants in the
Yan M; Dilihuma J; Luo Y; Reyilanmu B; Shen Y; Mireguli M
J Clin Res Pediatr Endocrinol; 2019 May; 11(2):211-217. PubMed ID: 30444213
[TBL] [Abstract][Full Text] [Related]
6. A rare cause of primary amenorrhea: LHCGR gene mutations.
Aktar Karakaya A; Çayır A; Unal E; Beştaş A; Ece Solmaz A; Kenan Haspolat Y
Eur J Obstet Gynecol Reprod Biol; 2022 May; 272():193-197. PubMed ID: 35366614
[TBL] [Abstract][Full Text] [Related]
7. Male hypogonadism caused by homozygous deletion of exon 10 of the luteinizing hormone (LH) receptor: differential action of human chorionic gonadotropin and LH.
Gromoll J; Eiholzer U; Nieschlag E; Simoni M
J Clin Endocrinol Metab; 2000 Jun; 85(6):2281-6. PubMed ID: 10852464
[TBL] [Abstract][Full Text] [Related]
8. [46,XY DSD induced by a novel mutation c.458T>C (p.Leu153Pro) of the LHCGR gene: A case report and review of the literature].
Xu ZY; Zhang JX; Liu Y; Geng Q; Xie JS; Li XJ
Zhonghua Nan Ke Xue; 2020 Dec; 26(12):1105-1111. PubMed ID: 34898086
[TBL] [Abstract][Full Text] [Related]
9. A new variant in signal peptide of the human luteinizing hormone receptor (LHCGR) affects receptor biogenesis causing leydig cell hypoplasia.
Vezzoli V; Duminuco P; Vottero A; Kleinau G; Schülein R; Minari R; Bassi I; Bernasconi S; Persani L; Bonomi M
Hum Mol Genet; 2015 Nov; 24(21):6003-12. PubMed ID: 26246498
[TBL] [Abstract][Full Text] [Related]
10. Mutations in a novel, cryptic exon of the luteinizing hormone/chorionic gonadotropin receptor gene cause male pseudohermaphroditism.
Kossack N; Simoni M; Richter-Unruh A; Themmen AP; Gromoll J
PLoS Med; 2008 Apr; 5(4):e88. PubMed ID: 18433292
[TBL] [Abstract][Full Text] [Related]
11. [Genetic diagnosis for a patient with Leydig cell hypoplasia caused by two novel variants of LHCGR gene].
Xia J; Li L; Duan F; Meng J; Yan S; Li S; Ren H; Kong X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Aug; 37(8):819-822. PubMed ID: 32761586
[TBL] [Abstract][Full Text] [Related]
12. Identification by array-Comparative Genomic Hybridization (array-CGH) of a large deletion of luteinizing hormone receptor gene combined with a missense mutation in a patient diagnosed with a 46,XY disorder of sex development and application to prenatal diagnosis.
Richard N; Leprince C; Gruchy N; Pigny P; Andrieux J; Mittre H; Manouvrier S; Lahlou N; Weill J; Kottler ML
Endocr J; 2011; 58(9):769-76. PubMed ID: 21720050
[TBL] [Abstract][Full Text] [Related]
13. A novel missense homozygous inactivating mutation in the fourth transmembrane helix of the luteinizing hormone receptor in leydig cell hypoplasia.
Leung MY; Al-Muslim O; Wu SM; Aziz A; Inam S; Awadh M; Rennert OM; Chan WY
Am J Med Genet A; 2004 Oct; 130A(2):146-53. PubMed ID: 15372531
[TBL] [Abstract][Full Text] [Related]
14. A novel inactivating mutation of the LH/chorionic gonadotrophin receptor with impaired membrane trafficking leading to Leydig cell hypoplasia type 1.
Rivero-Müller A; Potorac I; Pintiaux A; Daly AF; Thiry A; Rydlewski C; Nisolle M; Parent AS; Huhtaniemi I; Beckers A
Eur J Endocrinol; 2015 Jun; 172(6):K27-36. PubMed ID: 25795638
[TBL] [Abstract][Full Text] [Related]
15. 46 XY undervirulized male DSD: Reporting a patient with prenatally diagnosed disorder/difference of sex development (DSD) with heterozygous
Fendereski K; Carey J; Timme K; Hayes K; Robnett J; Schaeffer A
Urol Case Rep; 2022 Mar; 41():101971. PubMed ID: 34950567
[TBL] [Abstract][Full Text] [Related]
16. Aberrant transcription of the LHCGR gene caused by a mutation in exon 6A leads to Leydig cell hypoplasia type II.
Kossack N; Troppmann B; Richter-Unruh A; Kleinau G; Gromoll J
Mol Cell Endocrinol; 2013 Feb; 366(1):59-67. PubMed ID: 23232123
[TBL] [Abstract][Full Text] [Related]
17. Insights into the coexistence of two mutations in the same LHCGR gene locus causing severe Leydig cell hypoplasia.
Athanasoulia AP; Stalla GK; Auer MK
Hormones (Athens); 2014; 13(3):424-9. PubMed ID: 25079470
[TBL] [Abstract][Full Text] [Related]
18. Compound heterozygous mutations in the luteinizing hormone receptor signal peptide causing 46,XY disorder of sex development.
Potorac I; Trehan A; Szymańska K; Fudvoye J; Thiry A; Huhtaniemi I; Daly AF; Beckers A; Parent AS; Rivero-Müller A
Eur J Endocrinol; 2019 Aug; 181(2):K11-K20. PubMed ID: 31167162
[TBL] [Abstract][Full Text] [Related]
19. Male pseudohermaphroditism due to inactivating luteinizing hormone receptor mutations.
Wu SM; Chan WY
Arch Med Res; 1999; 30(6):495-500. PubMed ID: 10714363
[TBL] [Abstract][Full Text] [Related]
20. Novel homozygous nonsense mutations in LHCGR lead to empty follicle syndrome and 46, XY disorder of sex development.
Chen C; Xu X; Kong L; Li P; Zhou F; Zhao S; Xin X; Tan J; Zhang X
Hum Reprod; 2018 Jul; 33(7):1364-1369. PubMed ID: 29912377
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
