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Inactivation of the luteinizing hormone/chorionic gonadotropin receptor by an insertional mutation in Leydig cell hypoplasia.
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57
5
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Wu SM...Chan WY
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9817592 |
1998 |
2 |
An inactivating mutation of the luteinizing hormone receptor causes amenorrhea in a 46,XX female.
62
57
5
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Toledo SP...Kremer H Themmen AP
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8923827 |
1996 |
3 |
A nonsense mutation of the human luteinizing hormone receptor gene in Leydig cell hypoplasia.
62
57
5
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Laue L...Grant DB
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7581384 |
1995 |
4 |
Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene.
62
57
5
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Kremer H...Mariman E
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7719343 |
1995 |
5 |
Brief report: testicular and ovarian resistance to luteinizing hormone caused by inactivating mutations of the luteinizing hormone-receptor gene.
57
5
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Latronico AC...Chrousos GP
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8559204 |
1996 |
6 |
Inactivating mutations of the human luteinizing hormone receptor in both sexes.
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57
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Latronico AC...Arnhold IJ
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23044874 |
2012 |
7 |
A novel missense homozygous inactivating mutation in the fourth transmembrane helix of the luteinizing hormone receptor in leydig cell hypoplasia.
62
5
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Leung MY...Chan WY
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15372531 |
2004 |
8 |
Leydig cell hypoplasia: absent luteinizing hormone receptor cell surface expression caused by a novel homozygous mutation in the extracellular domain.
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5
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Richter-Unruh A...Themmen AP
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15472221 |
2004 |
9 |
Mutant luteinizing hormone receptors in a compound heterozygous patient with complete Leydig cell hypoplasia: abnormal processing causes signaling deficiency.
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5
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Martens JW...Sultan Ch
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12050206 |
2002 |
10 |
Male hypogonadism caused by homozygous deletion of exon 10 of the luteinizing hormone (LH) receptor: differential action of human chorionic gonadotropin and LH.
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5
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Gromoll J...Simoni M
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10852464 |
2000 |
11 |
Male pseudohermaphroditism due to inactivating luteinizing hormone receptor mutations.
62
57
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Wu SM...Chan WY
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10714363 |
1999 |
12 |
Evidence for genetic heterogeneity in male pseudohermaphroditism due to Leydig cell hypoplasia.
62
57
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Zenteno JC...Mendez JP
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10523033 |
1999 |
13 |
A homozygous mutation in the luteinizing hormone receptor causes partial Leydig cell hypoplasia: correlation between receptor activity and phenotype.
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5
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Martens JW...Themmen AP
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9626653 |
1998 |
14 |
Leydig cell hypoplasia leading to two different phenotypes: male pseudohermaphroditism and primary hypogonadism not associated with this.
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57
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Toledo SP
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1617805 |
1992 |
15 |
A clinico-genetic investigation of Leydig cell hypoplasia.
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57
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Saldanha PH...Toledo SP
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3812586 |
1987 |
16 |
Familial Leydig cell hypoplasia as a cause of male pseudohermaphroditism.
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57
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el-Awady MK...Gad YZ
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3557461 |
1987 |
17 |
Leydig cell hypoplasia: a cause of male pseudohermaphroditism.
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57
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Brown DM...Dehner LP
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221512 |
1978 |
18 |
Leydig-cell agenesis: a cause of male pseudohermaphroditism.
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57
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Berthezene F...Mornex R
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184390 |
1976 |
19 |
Inherited mutation of the luteinizing hormone/choriogonadotropin receptor (LHCGR) in empty follicle syndrome.
57
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Yariz KO...Tekin M
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21683950 |
2011 |
20 |
Inactivating mutations of luteinizing hormone beta-subunit or luteinizing hormone receptor cause oligo-amenorrhea and infertility in women.
57
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Arnhold IJ...Latronico AC
|
19129711 |
2009 |
21 |
Mutations of gonadotropins and gonadotropin receptors: elucidating the physiology and pathophysiology of pituitary-gonadal function.
57
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Themmen APN...Huhtaniemi IT
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11041448 |
2000 |
22 |
A novel mutation of the human luteinizing hormone receptor in 46XY and 46XX sisters.
5
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Stavrou SS...Imperato-McGinley J
|
9626144 |
1998 |
23 |
A homozygous microdeletion in helix 7 of the luteinizing hormone receptor associated with familial testicular and ovarian resistance is due to both decreased cell surface expression and impaired effector activation by the cell surface receptor.
5
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Latronico AC...Segaloff DL
|
9514160 |
1998 |
24 |
Comparison of immunocytochemical and molecular features with the phenotype in a case of incomplete male pseudohermaphroditism associated with a mutation of the luteinizing hormone receptor.
5
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Misrahi M...Bougneres P
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9215288 |
1997 |
25 |
Inherited male pseudohermaphroditism due to gonadotrophin unresponsiveness.
57
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Perez-Palacios G...Perez AE
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6792847 |
1981 |
26 |
Male pseudohermaphroditism secondary to an abnormality in Leydig cell differentiation.
57
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Schwartz M...Hensle T
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6263934 |
1981 |
27 |
Possible linkage between the Marinesco-Sjøgren syndrome and hypergonadotropic hypogonadism.
57
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Berg K...Skre H
|
975888 |
1976 |
28 |
Androgen metabolism and mechanism of action in male pseudohermaphroditism: a study of testicular feminization.
57
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Bardin CW...Blackburn WR
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4356278 |
1973 |
29 |
Novel homozygous inactivating mutation in the luteinizing hormone receptor gene (LHCGR) associated with 46, XY DSD in a Moroccan family.
62
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Alla A...Latrech H
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35670320 |
2022 |
30 |
Androgens and spermatogenesis.
62
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Christin-Maitre S...Young J
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35489414 |
2022 |
31 |
A rare cause of primary amenorrhea: LHCGR gene mutations.
62
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Aktar Karakaya A...Kenan Haspolat Y
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35366614 |
2022 |
32 |
46 XY undervirulized male DSD: Reporting a patient with prenatally diagnosed disorder/difference of sex development (DSD) with heterozygous LHCGR mutations.
62
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Fendereski K...Schaeffer A
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34950567 |
2022 |
33 |
Leydig cell hypoplasia type 1 diagnosed in early childhood with inactivating mutation in LHCGR gene.
62
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Comlek FO...Tutunculer F
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33948188 |
2021 |
34 |
A novel variant in LCHGR gene in 3 siblings with type 1 Leydig cell hypoplasia.
62
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Aktar Karakaya A...Haspolat YK
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32654531 |
2020 |
35 |
[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
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Xu ZY...Li XJ
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34898086 |
2020 |
36 |
Novel mutations of the LHCGR gene in two families with 46,XY DSD causing Leydig cell hypoplasia I.
62
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Hassan HA...Mazen I
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32666356 |
2020 |
37 |
[Genetic diagnosis for a patient with Leydig cell hypoplasia caused by two novel variants of LHCGR gene].
62
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Xia J...Kong X
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32761586 |
2020 |
38 |
LEYDIG CELL HYPOPLASIA: A UNIQUE PARADOX IN THE DIAGNOSIS OF 46,XY DISORDERS OF SEX DEVELOPMENT.
62
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Jahan S...Tofail T
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32524024 |
2020 |
39 |
Novel Compound Heterozygous Variants in the LHCGR Gene in a Genetically Male Patient with Female External Genitalia
62
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Yan M...Mireguli M
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30444213 |
2019 |
40 |
Diseases caused by mutations in luteinizing hormone/chorionic gonadotropin receptor.
62
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Qiao J...Han B
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30711030 |
2019 |
41 |
Novel compound heterozygous variants in the LHCGR gene identified in a subject with Leydig cell hypoplasia type 1.
62
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Xu Y...Wang J
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29305568 |
2018 |
42 |
Misfolding Ectodomain Mutations of the Lutropin Receptor Increase Efficacy of Hormone Stimulation.
62
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Charmandari E...Segaloff DL
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26554443 |
2016 |
43 |
A new variant in signal peptide of the human luteinizing hormone receptor (LHCGR) affects receptor biogenesis causing leydig cell hypoplasia.
62
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Vezzoli V...Bonomi M
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26246498 |
2015 |
44 |
Quality of Life and Psychological Adjustment of Women Living with 46,XY Differences of Sex Development.
62
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D'Alberton F...Mazzanti L
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25893774 |
2015 |
45 |
A novel inactivating mutation of the LH/chorionic gonadotrophin receptor with impaired membrane trafficking leading to Leydig cell hypoplasia type 1.
62
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Rivero-Muller A...Beckers A
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25795638 |
2015 |
46 |
What lessons can be learned from testicular histology in undescended testes?
62
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Mechlin CW...Kogan BA
|
26816792 |
2014 |
47 |
Etiological diagnosis of undervirilized male/XY disorder of sex development.
62
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Atta I...Raza J
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25327912 |
2014 |
48 |
Insights into the coexistence of two mutations in the same LHCGR gene locus causing severe Leydig cell hypoplasia.
62
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Athanasoulia AP...Auer MK
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25079470 |
2014 |
49 |
Successful testicular sperm recovery and IVF treatment in a man with Leydig cell hypoplasia.
62
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Bakircioglu ME...Bahceci M
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24792890 |
2014 |
50 |
The ERK1/2 pathway regulates testosterone synthesis by coordinately regulating the expression of steroidogenic genes in Leydig cells.
62
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Matzkin ME...Ascoli M
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23480967 |
2013 |