Associated Papers
EMD missense variant causes X-linked isolated dilated cardiomyopathy with myocardial emerin deficiency.
Bulmer L et al.
European Journal of Human Genetics : Ejhg, 2025
40065010 (PubMed )
Supplement: 41431_2025_1827_MOESM1_ESM.pdf
Genotype-Phenotype Correlations in Human Diseases Caused by Mutations of LINC Complex-Associated Genes: A Systematic Review and Meta-Summary.
Storey EC et al.
Cells, 2022
36552829 (PubMed )
Supplement: cells-11-04065-s001.zip › Storey___Fuller_Supplementary_Materials_S2_Data_extraction.xlsx › INM_proteins
Impact of functional studies on exome sequence variant interpretation in early-onset cardiac conduction system diseases.
Hayashi K et al.
Cardiovascular Research, 2020
Emery-Dreifuss muscular dystrophy.
Heller SA et al.
Muscle & Nerve, 2020
31840275 (PubMed )
Supplement: MUS-61-436-s001.docx
A novel EMD mutation in a Chinese family with initial diagnosis of conduction cardiomyopathy.
Zhou J et al.
Brain and Behavior, 2019
Emery-Dreifuss muscular dystrophy mutations impair TRC40-mediated targeting of emerin to the inner nuclear membrane.
Pfaff J et al.
Journal of Cell Science, 2016
Gene symbol: hMSH2. Disease: hereditary nonpolyposis colorectal cancer.
Otway R et al.
Human Genetics, 2005
Abnormal sympathetic innervation of the heart in a patient with Emery-Dreifuss muscular dystrophy.
Fujiita T et al.
Annals of Nuclear Medicine, 2005
Gene symbol: MLH1. Disease: Hereditary nonpolyposis colorectal cancer.
Otway R et al.
Human Genetics, 2005
Gene symbol: MLH1. Disease: Hereditary nonpolyposis colorectal cancer.
Otway R et al.
Human Genetics, 2005
Gene symbol: MSH2. Disease: Hereditary nonpolyposis colorectal cancer.
Otway R et al.
Human Genetics, 2005
Gene symbol: MSH2. Disease: Hereditary nonpolyposis colorectal cancer.
Otway R et al.
Human Genetics, 2005
Gene symbol: MSH2. Disease: Hereditary nonpolyposis colorectal cancer.
Otway R et al.
Human Genetics, 2005
Gene symbol: MSH2. Disease: Hereditary nonpolyposis colorectal cancer.
Otway R et al.
Human Genetics, 2005
Gene symbol: MSH2. Disease: Hereditary nonpolyposis colorectal cancer.
Otway R et al.
Human Genetics, 2005
Evaluation of enzymatic mutation detectiontrade mark in hereditary nonpolyposis colorectal cancer.
Otway R et al.
Human Mutation, 2000
RNA-based mutation screening in hereditary nonpolyposis colorectal cancer.
Kohonen-Corish M et al.
American Journal of Human Genetics, 1996
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