Associated Papers
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
Familial Recurrence of 3MC Syndrome in Consanguineous Families: A Clinical and Molecular Diagnostic Approach With Review of the Literature.
Gardner OK et al.
The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2017
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
The x-ray crystal structure of mannose-binding lectin-associated serine proteinase-3 reveals the structural basis for enzyme inactivity associated with the Carnevale, Mingarelli, Malpuech, and Michels (3MC) syndrome.
Yongqing T et al.
The Journal of Biological Chemistry, 2013
MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes.
Sirmaci A et al.
American Journal of Human Genetics, 2010
Select a paper to view details