1 |
Novel homozygous inactivating mutation in the luteinizing hormone receptor gene (LHCGR) associated with 46, XY DSD in a Moroccan family.
62
|
Alla A...Latrech H
|
35670320 |
2022 |
2 |
Androgens and spermatogenesis.
62
|
Christin-Maitre S...Young J
|
35489414 |
2022 |
3 |
A rare cause of primary amenorrhea: LHCGR gene mutations.
62
|
Aktar Karakaya A...Kenan Haspolat Y
|
35366614 |
2022 |
4 |
46 XY undervirulized male DSD: Reporting a patient with prenatally diagnosed disorder/difference of sex development (DSD) with heterozygous LHCGR mutations.
62
|
Fendereski K...Schaeffer A
|
34950567 |
2022 |
5 |
Leydig cell hypoplasia type 1 diagnosed in early childhood with inactivating mutation in LHCGR gene.
62
|
Comlek FO...Tutunculer F
|
33948188 |
2021 |
6 |
[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].
62
|
Xu ZY...Li XJ
|
34898086 |
2020 |
7 |
A novel variant in LCHGR gene in 3 siblings with type 1 Leydig cell hypoplasia.
62
|
Aktar Karakaya A...Haspolat YK
|
32654531 |
2020 |
8 |
Novel mutations of the LHCGR gene in two families with 46,XY DSD causing Leydig cell hypoplasia I.
62
|
Hassan HA...Mazen I
|
32666356 |
2020 |
9 |
[Genetic diagnosis for a patient with Leydig cell hypoplasia caused by two novel variants of LHCGR gene].
62
|
Xia J...Kong X
|
32761586 |
2020 |
10 |
LEYDIG CELL HYPOPLASIA: A UNIQUE PARADOX IN THE DIAGNOSIS OF 46,XY DISORDERS OF SEX DEVELOPMENT.
62
|
Jahan S...Tofail T
|
32524024 |
2020 |
11 |
Novel Compound Heterozygous Variants in the LHCGR Gene in a Genetically Male Patient with Female External Genitalia
62
|
Yan M...Mireguli M
|
30444213 |
2019 |
12 |
Diseases caused by mutations in luteinizing hormone/chorionic gonadotropin receptor.
62
|
Qiao J...Han B
|
30711030 |
2019 |
13 |
Novel compound heterozygous variants in the LHCGR gene identified in a subject with Leydig cell hypoplasia type 1.
62
|
Xu Y...Wang J
|
29305568 |
2018 |
14 |
Misfolding Ectodomain Mutations of the Lutropin Receptor Increase Efficacy of Hormone Stimulation.
62
|
Charmandari E...Segaloff DL
|
26554443 |
2016 |
15 |
A new variant in signal peptide of the human luteinizing hormone receptor (LHCGR) affects receptor biogenesis causing leydig cell hypoplasia.
62
|
Vezzoli V...Bonomi M
|
26246498 |
2015 |
16 |
A novel inactivating mutation of the LH/chorionic gonadotrophin receptor with impaired membrane trafficking leading to Leydig cell hypoplasia type 1.
62
|
Rivero-Muller A...Beckers A
|
25795638 |
2015 |
17 |
Quality of Life and Psychological Adjustment of Women Living with 46,XY Differences of Sex Development.
62
|
D'Alberton F...Mazzanti L
|
25893774 |
2015 |
18 |
What lessons can be learned from testicular histology in undescended testes?
62
|
Mechlin CW...Kogan BA
|
26816792 |
2014 |
19 |
Etiological diagnosis of undervirilized male/XY disorder of sex development.
62
|
Atta I...Raza J
|
25327912 |
2014 |
20 |
Successful testicular sperm recovery and IVF treatment in a man with Leydig cell hypoplasia.
62
|
Bakircioglu ME...Bahceci M
|
24792890 |
2014 |
21 |
Insights into the coexistence of two mutations in the same LHCGR gene locus causing severe Leydig cell hypoplasia.
62
|
Athanasoulia AP...Auer MK
|
25079470 |
2014 |
22 |
The ERK1/2 pathway regulates testosterone synthesis by coordinately regulating the expression of steroidogenic genes in Leydig cells.
62
|
Matzkin ME...Ascoli M
|
23480967 |
2013 |
23 |
Aberrant transcription of the LHCGR gene caused by a mutation in exon 6A leads to Leydig cell hypoplasia type II.
62
|
Kossack N...Gromoll J
|
23232123 |
2013 |
24 |
Gonadotropin resistance.
62
|
Latronico AC...Arnhold IJ
|
23392092 |
2013 |
25 |
Inactivating mutations of the human luteinizing hormone receptor in both sexes.
62
|
Latronico AC...Arnhold IJ
|
23044874 |
2012 |
26 |
Functional study of an aberrant splicing variant of the human luteinizing hormone (LH) receptor.
62
|
Han B...Song HD
|
22002533 |
2012 |
27 |
The Leydig cell MEK/ERK pathway is critical for maintaining a functional population of adult Leydig cells and for fertility.
62
|
Yamashita S...Ascoli M
|
21527500 |
2011 |
28 |
Rescue of expression and signaling of human luteinizing hormone G protein-coupled receptor mutants with an allosterically binding small-molecule agonist.
62
|
Newton CL...Millar RP
|
21482767 |
2011 |
29 |
Leydig cell hypoplasia due to inactivating luteinizing hormone/chorionic gonadotropin receptor gene mutation presenting as a 46,XY DSD.
62
|
Sinha SK...Gromoll J
|
21691974 |
2011 |
30 |
46,XY DSD due to impaired androgen production.
62
|
Mendonca BB...Domenice S
|
20541150 |
2010 |
31 |
A splice site mutation combined with a novel missense mutation of LHCGR cause male pseudohermaphroditism.
62
|
Qiao J...Song HD
|
19551906 |
2009 |
32 |
The undescended testis: diagnosis, treatment and long-term consequences.
62
|
Mathers MJ...Roth S
|
19738919 |
2009 |
33 |
Diseases associated with mutations of the human lutropin receptor.
62
|
Segaloff DL
|
20374734 |
2009 |
34 |
Mutations in a novel, cryptic exon of the luteinizing hormone/chorionic gonadotropin receptor gene cause male pseudohermaphroditism.
62
|
Kossack N...Gromoll J
|
18433292 |
2008 |
35 |
Biological effect of a novel mutation in the third leucine-rich repeat of human luteinizing hormone receptor.
62
|
Leung MY...Chan WY
|
16709601 |
2006 |
36 |
Inactivating mutations of LH and FSH receptors--from genotype to phenotype.
62
|
Latronico AC...Arnhold IJ
|
17021580 |
2006 |
37 |
[Leydig cell hypoplasia (Leydig cell aplasia)].
62
|
Arisaka O...Koyama S
|
16817462 |
2006 |
38 |
Three new 46,XX male patients: a clinical, cytogenetic and molecular analysis.
62
|
Grigorescu-Sido A...Bettendorf M
|
15751609 |
2005 |
39 |
[Leydig cell hypoplasia].
62
|
Latronico AC...Arnhold IJ
|
16544038 |
2005 |
40 |
Disorders of sexual development caused by luteinizing hormone receptor mutations.
62
|
Chan WY
|
15719037 |
2005 |
41 |
Novel insertion frameshift mutation of the LH receptor gene: problematic clinical distinction of Leydig cell hypoplasia from enzyme defects primarily affecting testosterone biosynthesis.
62
|
Richter-Unruh A...Wudy SA
|
15745934 |
2005 |
42 |
Leydig cell hypoplasia due to inactivation of luteinizing hormone receptor by a novel homozygous nonsense truncation mutation in the seventh transmembrane domain.
62
|
Salameh W...Chan WY
|
15607529 |
2005 |
43 |
A novel double mutation in the luteinizing hormone receptor in a kindred with familial Leydig cell hypoplasia and male pseudohermaphroditism.
62
|
Pals-Rylaarsdam R...Shenker A
|
16433250 |
2005 |
44 |
Targeted disruption of luteinizing hormone beta-subunit leads to hypogonadism, defects in gonadal steroidogenesis, and infertility.
62
|
Ma X...Kumar TR
|
15569941 |
2004 |
45 |
Detection of rare Leydig cell hypoplasia in somatic cell cloned male piglets.
62
|
Park MR...Kim JH
|
15751539 |
2004 |
46 |
A novel missense homozygous inactivating mutation in the fourth transmembrane helix of the luteinizing hormone receptor in leydig cell hypoplasia.
62
|
Leung MY...Chan WY
|
15372531 |
2004 |
47 |
Leydig cell hypoplasia: absent luteinizing hormone receptor cell surface expression caused by a novel homozygous mutation in the extracellular domain.
62
|
Richter-Unruh A...Themmen AP
|
15472221 |
2004 |
48 |
[Leydig cell hypoplasia(agenesis)].
62
|
Koyama S...Arisaka O
|
14968545 |
2004 |
49 |
LH receptor defects.
62
|
Themmen AP...Verhoef-Post M
|
12428200 |
2002 |
50 |
Mutant luteinizing hormone receptors in a compound heterozygous patient with complete Leydig cell hypoplasia: abnormal processing causes signaling deficiency.
62
|
Martens JW...Sultan Ch
|
12050206 |
2002 |