Associated Papers
Molecular impacts of Meier-Gorlin syndrome mutations on human origin licensing.
Yang R et al.
The Journal of Biological Chemistry, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
A novel homozygous intronic variant in CDT1 that alters splicing causes Meier-Gorlin syndrome, and a review of published mutations and growth hormone treatments.
Li Q et al.
Orphanet Journal of Rare Diseases, 2024
The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome.
Nielsen-Dandoroff E et al.
European Journal of Human Genetics : Ejhg, 2023
Tissue-Specific DNA Replication Defects in Drosophila melanogaster Caused by a Meier-Gorlin Syndrome Mutation in Orc4.
McDaniel SL et al.
Genetics, 2020
Analysis of cilia dysfunction phenotypes in zebrafish embryos depleted of Origin recognition complex factors.
Maerz LD et al.
European Journal of Human Genetics : Ejhg, 2019
Defective replication initiation results in locus specific chromosome breakage and a ribosomal RNA deficiency in yeast.
Sanchez JC et al.
Plos Genetics, 2017
Structure of the active form of human origin recognition complex and its ATPase motor module.
Tocilj A et al.
Elife, 2017
A Meier-Gorlin syndrome mutation impairs the ORC1-nucleosome association.
Zhang W et al.
Acs Chemical Biology, 2015
Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of Meier-Gorlin syndrome.
Stiff T et al.
Plos Genetics, 2013
23516378 (PubMed )
Supplement: pgen.1003360.s005.pdf
Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder.
de Munnik SA et al.
American Journal of Medical Genetics. Part A, 2012
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.
de Munnik SA et al.
European Journal of Human Genetics : Ejhg, 2012
Of ORC and forks: the identification of mutations implicated in Meier-Gorlin syndrome.
Ladha S
Clinical Genetics, 2011
Mutations in the pre-replication complex cause Meier-Gorlin syndrome.
Bicknell LS et al.
Nature Genetics, 2011
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