Associated Papers
Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy.
Spielmann N et al.
Nature Cardiovascular Research, 2022
39195995 (PubMed )
Supplement: 44161_2022_18_MOESM5_ESM.xlsx › VSD-Genes
Association of Polymorphisms of MASP1/3, COLEC10, and COLEC11 Genes with 3MC Syndrome.
Gajek G et al.
International Journal of Molecular Sciences, 2020
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
31164752 (PubMed )
Supplement: 41436_2019_566_MOESM2_ESM.xlsx › Sheet1
Analysis of Factor D Isoforms in Malpuech-Michels-Mingarelli-Carnevale Patients Highlights the Role of MASP-3 as a Maturase in the Alternative Pathway of Complement.
Pihl R et al.
Journal of Immunology (baltimore, Md. : 1950), 2017
Exploring the genetic basis of 3MC syndrome: Findings in 12 further families.
Urquhart J et al.
American Journal of Medical Genetics. Part A, 2016
Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome.
Atik T et al.
Orphanet Journal of Rare Diseases, 2015
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