Associated Papers
Using the Reactome Graph Database to generate pathway fingerprints for cancer-related genes, and using the fingerprints to gain insights into cancer, comorbidity, and cancer gene networks.
Iengar P et al.
Computational Biology and Chemistry, 2026
Genetic variants and molecular profiling of 46,XY gonadal dysgenesis using whole-exome sequencing.
Zhang N et al.
Frontiers in Endocrinology, 2025
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
Unravelling the role of PLK1 in tumorigenesis by revealing the mutational landscape of colorectal and lung cancer with PLK1 mutations.
Wang S et al.
Journal of Cellular and Molecular Medicine, 2024
Novel phenotypes and genotypes in Antley-Bixler syndrome caused by cytochrome P450 oxidoreductase deficiency: based on the first cohort of Chinese children.
Fan L et al.
Orphanet Journal of Rare Diseases, 2019
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
Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.
Koumbaris G et al.
Molecular Cytogenetics, 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
A novel homozygous frame-shift variant in the LHCGR gene is associated with primary ovarian insufficiency in a Pakistani family.
Zielen AC et al.
Clinical Genetics, 2018
GATA4 Variants in Individuals With a 46,XY Disorder of Sex Development (DSD) May or May Not Be Associated With Cardiac Defects Depending on Second Hits in Other DSD Genes.
Martinez de LaPiscina I et al.
Frontiers in Endocrinology, 2018
Loss-of-Function Mutations in the Human Luteinizing Hormone Receptor Predominantly Cause Intracellular Retention.
Newton CL et al.
Endocrinology, 2016
Aetiological coding sequence variants in non-syndromic premature ovarian failure: From genetic linkage analysis to next generation sequencing.
Laissue P
Molecular and Cellular Endocrinology, 2015
How genetic errors in GPCRs affect their function: Possible therapeutic strategies.
Stoy H et al.
Genes & Diseases, 2015
Clonal architectures and driver mutations in metastatic melanomas.
Ding L et al.
Plos One, 2014
Inactivating mutations of luteinizing hormone beta-subunit or luteinizing hormone receptor cause oligo-amenorrhea and infertility in women.
Arnhold IJ et al.
Hormone Research, 2009
Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications.
Tao YX
Pharmacology & Therapeutics, 2006
[Leydig cell hypoplasia].
Latronico AC et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2005
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
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
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
Clinical features of women with resistance to luteinizing hormone.
Arnhold IJ et al.
Clinical Endocrinology, 1999
Menstrual disorders and infertility caused by inactivating mutations of the luteinizing hormone receptor gene.
Arnhold IJ et al.
Fertility and Sterility, 1999
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.
Latronico AC et al.
Molecular Endocrinology (baltimore, Md.), 1998
Molecular genetic, biochemical, and clinical implications of gonadotropin receptor mutations.
Chan WY
Molecular Genetics and Metabolism, 1998
Clinical manifestations of genetic defects affecting gonadotrophins and their receptors.
Conway GS
Clinical Endocrinology, 1996
Compound heterozygous mutations of the luteinizing hormone receptor gene in Leydig cell hypoplasia.
Laue LL et al.
Molecular Endocrinology (baltimore, Md.), 1996