Associated Papers
Germline mutations of GCM2 cause a novel variant of hereditary primary hyperparathyroidism.
Iacobone M et al.
Updates in Surgery, 2025
Heritable hyperparathyroidism: Genetic insights and clinical implications.
Grover A et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2025
Molecular Genetic Aspects of Sporadic Multiglandular Primary Hyperparathyroidism.
Včelák J et al.
Physiological Research, 2023
Molecular and Clinical Spectrum of Primary Hyperparathyroidism.
Jha S et al.
Endocrine Reviews, 2023
Somatic Double Inactivation of NF1 Associated with NF1-Related Pectus Excavatum Deformity.
Chelleri C et al.
Human Mutation, 2023
GCM2 Variants in Familial and Multiglandular Primary Hyperparathyroidism.
Vincze S et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
Novel Glial Cells Missing-2 (GCM2) variants in parathyroid disorders.
Canaff L et al.
European Journal of Endocrinology, 2022
Integrated genomic-metabolic classification of acute myeloid leukemia defines a subgroup with NPM1 and cohesin/DNA damage mutations.
Simonetti G et al.
Leukemia, 2021
Five patients with disorders of calcium metabolism presented with GCM2 gene variants.
García-Castaño A et al.
Scientific Reports, 2021
Whole exome sequencing in familial isolated primary hyperparathyroidism.
Cetani F et al.
Journal of Endocrinological Investigation, 2020
Should the GCM2 gene be tested when screening for familial primary hyperparathyroidism?
Coppin L et al.
European Journal of Endocrinology, 2020
New Concepts About Familial Isolated Hyperparathyroidism.
Marx SJ
The Journal of Clinical Endocrinology and Metabolism, 2019
Analysis of Activating GCM2 Sequence Variants in Sporadic Parathyroid Adenomas.
Riccardi A et al.
The Journal of Clinical Endocrinology and Metabolism, 2019
Molecular genetic insights into sporadic primary hyperparathyroidism.
Brewer K et al.
Endocrine-related Cancer, 2019
Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.
Glentis S et al.
Frontiers in Genetics, 2019
Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Schrader A et al.
Nature Communications, 2018
Specifying the molecular pattern of sporadic parathyroid tumorigenesis-The Y282D variant of the GCM2 gene.
Marchiori E et al.
Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2017
GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism.
Guan B et al.
American Journal of Human Genetics, 2016
MAJOR MOLECULAR GENETIC DRIVERS IN SPORADIC PRIMARY HYPERPARATHYROIDISM.
Arnold A
Transactions of the American Clinical and Climatological Association, 2016
Increased prevalence of the GCM2 polymorphism, Y282D, in primary hyperparathyroidism: analysis of three Italian cohorts.
D'Agruma L et al.
The Journal of Clinical Endocrinology and Metabolism, 2014
The CASR gene: alternative splicing and transcriptional control, and calcium-sensing receptor (CaSR) protein: structure and ligand binding sites.
Hendy GN et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2013
Mutational analysis of GCMB, a parathyroid-specific transcription factor, in parathyroid adenoma of primary hyperparathyroidism.
Mannstadt M et al.
The Journal of Endocrinology, 2011
Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.
Bowl MR et al.
Human Molecular Genetics, 2010
Analysis of the GCM2 gene in isolated hypoparathyroidism: a molecular and biochemical study.
Maret A et al.
The Journal of Clinical Endocrinology and Metabolism, 2008