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
Misfolded G Protein-Coupled Receptors and Endocrine Disease. Molecular Mechanisms and Therapeutic Prospects.
Ulloa-Aguirre A et al.
International Journal of Molecular Sciences, 2021
Rescue of Function of Mutant Luteinising Hormone Receptors with Deficiencies in Cell Surface Expression, Hormone Binding, and Hormone Signalling.
Newton CL et al.
Neuroendocrinology, 2021
Performance of mutation pathogenicity prediction tools on missense variants associated with 46,XY differences of sex development.
Montenegro LR et al.
Clinics (sao Paulo, Brazil), 2021
Novel mutations of the LHCGR gene in two families with 46,XY DSD causing Leydig cell hypoplasia I.
Hassan HA et al.
Hormones (athens, Greece), 2020
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
Intracellular Trafficking of Gonadotropin Receptors in Health and Disease.
Ulloa-Aguirre A et al.
Handbook of Experimental Pharmacology, 2018
Loss-of-Function Mutations in the Human Luteinizing Hormone Receptor Predominantly Cause Intracellular Retention.
Newton CL et al.
Endocrinology, 2016
Inherited mutation of the luteinizing hormone/choriogonadotropin receptor (LHCGR) in empty follicle syndrome.
Yariz KO et al.
Fertility and Sterility, 2011
An update of the pathophysiology of human gonadotrophin subunit and receptor gene mutations and polymorphisms.
Themmen AP
Reproduction (cambridge, England), 2005
A novel double mutation in the luteinizing hormone receptor in a kindred with familial Leydig cell hypoplasia and male pseudohermaphroditism.
Pals-Rylaarsdam R et al.
Endocrine Research, 2005
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