| 1 |
Novel compound heterozygous variants in the LHCGR gene identified in a subject with Leydig cell hypoplasia type 1. ( 29305568
)
|
Xu Y...Wang J
|
2018 |
| 2 |
A novel inactivating mutation of the LH/chorionic gonadotrophin receptor with impaired membrane trafficking leading to Leydig cell hypoplasia type 1. ( 25795638
)
|
Rivero-M?ller A...Beckers A
|
2015 |
| 3 |
A new variant in signal peptide of the human luteinizing hormone receptor (LHCGR) affects receptor biogenesis causing leydig cell hypoplasia. ( 26246498
)
|
Vezzoli V...Bonomi M
|
2015 |
| 4 |
Successful testicular sperm recovery and IVF treatment in a man with Leydig cell hypoplasia. ( 24792890
)
|
Bakircioglu ME...Bahceci M
|
2014 |
| 5 |
Insights into the coexistence of two mutations in the same LHCGR gene locus causing severe Leydig cell hypoplasia. ( 25079470
)
|
Athanasoulia AP...Auer MK
|
2014 |
| 6 |
Aberrant transcription of the LHCGR gene caused by a mutation in exon 6A leads to Leydig cell hypoplasia type II. ( 23232123
)
|
Kossack N...Gromoll J
|
2013 |
| 7 |
Leydig cell hypoplasia due to inactivating luteinizing hormone/chorionic gonadotropin receptor gene mutation presenting as a 46,XY DSD. ( 21691974
)
|
Sinha SK...Gromoll J
|
2011 |
| 8 |
Leydig cell hypoplasia due to inactivation of luteinizing hormone receptor by a novel homozygous nonsense truncation mutation in the seventh transmembrane domain. ( 15607529
)
|
Salameh W...Chan WY
|
2005 |
| 9 |
Novel insertion frameshift mutation of the LH receptor gene: problematic clinical distinction of Leydig cell hypoplasia from enzyme defects primarily affecting testosterone biosynthesis. ( 15745934
)
|
Richter-Unruh A...Wudy SA
|
2005 |
| 10 |
A novel double mutation in the luteinizing hormone receptor in a kindred with familial Leydig cell hypoplasia and male pseudohermaphroditism. ( 16433250
)
|
Pals-Rylaarsdam R...Shenker A
|
2005 |
| 11 |
A novel missense homozygous inactivating mutation in the fourth transmembrane helix of the luteinizing hormone receptor in leydig cell hypoplasia. ( 15372531
)
|
Leung MY...Chan WY
|
2004 |
| 12 |
Leydig cell hypoplasia: absent luteinizing hormone receptor cell surface expression caused by a novel homozygous mutation in the extracellular domain. ( 15472221
)
|
Richter-Unruh A...Themmen AP
|
2004 |
| 13 |
Detection of rare Leydig cell hypoplasia in somatic cell cloned male piglets. ( 15751539
)
|
Park MR...Kim JH
|
2004 |
| 14 |
Leydig cell hypoplasia: cases with new mutations, new polymorphisms and cases without mutations in the luteinizing hormone receptor gene. ( 11849253
)
|
Richter-Unruh A...Themmen AP
|
2002 |
| 15 |
Mutant luteinizing hormone receptors in a compound heterozygous patient with complete Leydig cell hypoplasia: abnormal processing causes signaling deficiency. ( 12050206
)
|
Martens JW...Sultan Ch
|
2002 |
| 16 |
Evidence for genetic heterogeneity in male pseudohermaphroditism due to Leydig cell hypoplasia. ( 10523033
)
|
Zenteno JC...Mendez JP
|
1999 |
| 17 |
A homozygous mutation in the luteinizing hormone receptor causes partial Leydig cell hypoplasia: correlation between receptor activity and phenotype. ( 9626653
)
|
Martens JW...Themmen AP
|
1998 |
| 18 |
Inactivation of the luteinizing hormone/chorionic gonadotropin receptor by an insertional mutation in Leydig cell hypoplasia. ( 9817592
)
|
Wu SM...Chan WY
|
1998 |
| 19 |
Compound heterozygous mutations of the luteinizing hormone receptor gene in Leydig cell hypoplasia. ( 8843415
)
|
Laue LL...Chan WY
|
1996 |
| 20 |
Laparoscopic bilateral gonadectomy in a phenotypic woman with a form of Leydig cell hypoplasia. ( 9050648
)
|
Qasim SM...Sachdev R
|
1996 |
| 21 |
A nonsense mutation of the human luteinizing hormone receptor gene in Leydig cell hypoplasia. ( 7581384
)
|
Laue L...Grant DB
|
1995 |
| 22 |
Leydig cell hypoplasia leading to two different phenotypes: male pseudohermaphroditism and primary hypogonadism not associated with this. ( 1617805
)
|
Toledo SP
|
1992 |
| 23 |
Normal expression of the serologically defined H-Y antigen in Leydig cell hypoplasia. ( 3193536
)
|
Arnhold IJ...Moreira-Filho CA
|
1988 |
| 24 |
Leydig cell hypoplasia causing male pseudohermaphroditism: case report and review of the literature. ( 3135571
)
|
Arnhold IJ...Bloise W
|
1987 |
| 25 |
Familial Leydig cell hypoplasia as a cause of male pseudohermaphroditism. ( 3557461
)
|
el-Awady MK...Gad YZ
|
1987 |
| 26 |
A clinico-genetic investigation of Leydig cell hypoplasia. ( 3812586
)
|
Saldanha PH...Toledo SP
|
1987 |
| 27 |
Leydig cell hypoplasia determining familial hypergonadotropic hypogonadism. ( 3936055
)
|
Toledo SP...Saldanha PH
|
1985 |
| 28 |
Male pseudohermaphroditism resulting from Leydig cell hypoplasia. ( 3998941
)
|
Arnhold IJ...Toledo SP
|
1985 |
| 29 |
Hypogonadism and Leydig cell hypoplasia unresponsive to human luteinizing hormone (hLH). ( 6428228
)
|
Wu RH...Fukushima D
|
1984 |
| 30 |
Leydig cell hypoplasia causing male pseudohermaphroditism: diagnosis 13 years after prepubertal castration. ( 6319451
)
|
Eil C...Johnsonbaugh RE
|
1984 |
| 31 |
Leydig cell hypoplasia: a cause of male pseudohermaphroditism. ( 221512
)
|
Brown DM...Dehner LP
|
1978 |
