Associated Papers
The clinical characteristics of 10 cases and adult height of six cases of rare familial male-limited precocious puberty.
Xie D et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2025
Comprehensive Analysis of Damage Associated SNPs of Luteinizing Hormone and Its Receptor: A Computational Approach.
Bhatnager R et al.
American Journal of Reproductive Immunology (new York, N.y. : 1989), 2024
Familial male-limited precocious puberty due to an activating mutation of the LHCGR: a case report and literature review.
Ha J et al.
Annals of Pediatric Endocrinology & Metabolism, 2024
Long-Term Treatment With Letrozole in a Boy With Familial Male-Limited Precocious Puberty.
Yuan X et al.
Frontiers in Endocrinology, 2022
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
Testotoxicosis without Testicular Mass: Revealed by Peripheral Precocious Puberty and Confirmed by Somatic LHCGR Gene Mutation.
Daussac A et al.
Endocrine Research, 2020
Gain-of-function mutations in G-protein-coupled receptor genes associated with human endocrine disorders.
Fukami M et al.
Clinical Endocrinology, 2018
Cosegregation of a novel mutation in the sixth transmembrane segment of the luteinizing/choriogonadotropin hormone receptor with two Brazilian siblings with severe testotoxicosis.
Siviero-Miachon AA et al.
Endocrine Research, 2017
Sexual Precocity--Genetic Bases of Central Precocious Puberty and Autonomous Gonadal Activation.
Macedo DB et al.
Endocrine Development, 2016
Testotoxicosis: Report of Two Cases, One with a Novel Mutation in LHCGR Gene.
Özcabı B et al.
Journal of Clinical Research in Pediatric Endocrinology, 2015
How genetic errors in GPCRs affect their function: Possible therapeutic strategies.
Stoy H et al.
Genes & Diseases, 2015
Association Study between Polycystic Ovarian Syndrome and the Susceptibility Genes Polymorphisms in Hui Chinese Women.
Ha L et al.
Plos One, 2015
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
[Analysis of a family affected with familial male-limited precocious puberty due to a Ala568Val mutation in LHCGR gene].
Chen RM et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2012
[A Chinese boy with familial male-confined precocious puberty caused by a mutation Ala568Val in LHCGR gene].
Chen RM et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2012
Constitutive activation of G protein-coupled receptors and diseases: insights into mechanisms of activation and therapeutics.
Tao YX
Pharmacology & Therapeutics, 2008
An update of the pathophysiology of human gonadotrophin subunit and receptor gene mutations and polymorphisms.
Themmen AP
Reproduction (cambridge, England), 2005
The G protein-coupled receptors: pharmacogenetics and disease.
Thompson MD et al.
Critical Reviews in Clinical Laboratory Sciences, 2005
Clinical and molecular analysis of human reproductive disorders in Brazilian patients.
Latronico AC et al.
Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologica, 2004
Long-term follow-up of spontaneous development in a boy with familial male precocious puberty.
Partsch CJ et al.
Hormone Research, 2004
Maternal isodisomy causing homozygosity for a dominant activating mutation of the luteinizing hormone receptor gene in a boy with familial male-limited precocious puberty.
Latronico AC et al.
Clinical Endocrinology, 2003
Study of the family of a patient with male-limited precocious puberty (MPP) due to T1193C transition in exon 11 of LH receptor gene.
Ignacak M et al.
Journal of Endocrinological Investigation, 2002
Activating mutations of the lutropin choriogonadotropin receptor in precocious puberty.
Shenker A
Receptors & Channels, 2002
Gonadotropin-independent precocious puberty due to luteinizing hormone receptor mutations in Brazilian boys: a novel constitutively activating mutation in the first transmembrane helix.
Latronico AC et al.
The Journal of Clinical Endocrinology and Metabolism, 2000
The effect of distinct activating mutations of the luteinizing hormone receptor gene on the pituitary-gonadal axis in both sexes.
Latronico AC et al.
Clinical Endocrinology, 2000
Theoretical study on mutation-induced activation of the luteinizing hormone receptor.
Fanelli F
Journal of Molecular Biology, 2000
Luteinizing hormone receptor mutations in disorders of sexual development and cancer.
Wu SM et al.
Frontiers in Bioscience : a Journal and Virtual Library, 2000
Naturally occurring mutations of the luteinizing hormone receptor gene affecting reproduction.
Latronico AC
Seminars in Reproductive Medicine, 2000
A unique constitutively activating mutation in third transmembrane helix of luteinizing hormone receptor causes sporadic male gonadotropin-independent precocious puberty.
Latronico AC et al.
The Journal of Clinical Endocrinology and Metabolism, 1998
Molecular genetic, biochemical, and clinical implications of gonadotropin receptor mutations.
Chan WY
Molecular Genetics and Metabolism, 1998
Heterogeneity of activating mutations of the human luteinizing hormone receptor in male-limited precocious puberty.
Laue L et al.
Biochemical and Molecular Medicine, 1996
A case of male-limited precocious puberty caused by a point mutation in the second transmembrane domain of the luteinizing hormone choriogonadotropin receptor gene.
Yano K et al.
Biochemical and Biophysical Research Communications, 1996
Genetic variants of G-protein coupled receptors associated with pubertal disorders.
Suzuki E et al.
Reproductive Medicine and Biology, 0