Associated Papers
LHCGR inactivating variants: single center experience and systematic review of phenotype-genotype of 46,XY and 46,XX patients.
Barnabas R et al.
Endocrine Connections, 2024
Novel Compound Heterozygous Variants in the LHCGR Gene in a Genetically Male Patient with Female External Genitalia
Yan M et al.
Journal of Clinical Research in Pediatric Endocrinology, 2019
[Clinical features and INS mutations of an infant with neonatal diabetes mellitus].
Luo YF et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2018
Loss-of-Function Mutations in the Human Luteinizing Hormone Receptor Predominantly Cause Intracellular Retention.
Newton CL et al.
Endocrinology, 2016
Novel homozygous nonsense mutations in the luteinizing hormone receptor (LHCGR) gene associated with 46,XY primary amenorrhea.
Ben Hadj Hmida I et al.
Fertility and Sterility, 2016
How genetic errors in GPCRs affect their function: Possible therapeutic strategies.
Stoy H et al.
Genes & Diseases, 2015
Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications.
Tao YX
Pharmacology & Therapeutics, 2006
Leydig cell hypoplasia due to inactivation of luteinizing hormone receptor by a novel homozygous nonsense truncation mutation in the seventh transmembrane domain.
Salameh W et al.
Molecular and Cellular Endocrinology, 2005
A novel missense homozygous inactivating mutation in the fourth transmembrane helix of the luteinizing hormone receptor in leydig cell hypoplasia.
Leung MY et al.
American Journal of Medical Genetics. Part A, 2004
Luteinizing hormone receptor mutations in disorders of sexual development and cancer.
Wu SM et al.
Frontiers in Bioscience : a Journal and Virtual Library, 2000
Menstrual disorders and infertility caused by inactivating mutations of the luteinizing hormone receptor gene.
Arnhold IJ et al.
Fertility and Sterility, 1999
Inactivation of the luteinizing hormone/chorionic gonadotropin receptor by an insertional mutation in Leydig cell hypoplasia.
Wu SM et al.
Molecular Endocrinology (baltimore, Md.), 1998
Molecular genetic, biochemical, and clinical implications of gonadotropin receptor mutations.
Chan WY
Molecular Genetics and Metabolism, 1998
Compound heterozygous mutations of the luteinizing hormone receptor gene in Leydig cell hypoplasia.
Laue LL et al.
Molecular Endocrinology (baltimore, Md.), 1996
A nonsense mutation of the human luteinizing hormone receptor gene in Leydig cell hypoplasia.
Laue L et al.
Human Molecular Genetics, 1995
LEYDIG CELL HYPOPLASIA: A UNIQUE PARADOX IN THE DIAGNOSIS OF 46,XY DISORDERS OF SEX DEVELOPMENT.
Jahan S et al.
Aace Clinical Case Reports, 0
Genetic variants of G-protein coupled receptors associated with pubertal disorders.
Suzuki E et al.
Reproductive Medicine and Biology, 0