Associated Papers
Opitz GBBB syndrome with total anomalous pulmonary venous connection: A new MID1 gene variant.
Perea-Cabrera M et al.
Molecular Genetics & Genomic Medicine, 2023
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
29491882 (PubMed )
Supplement: Table2.xlsx › Sheet1
Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformation.
Alby C et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology, 2016
Mid1/Mid2 expression in craniofacial development and a literature review of X-linked opitz syndrome.
Li B et al.
Molecular Genetics & Genomic Medicine, 2016
R368X mutation in MID1 among recurrent mutations in patients with X-linked Opitz G/BBB syndrome.
Preiksaitiene E et al.
Clinical Dysmorphology, 2015
MID1 catalyzes the ubiquitination of protein phosphatase 2A and mutations within its Bbox1 domain disrupt polyubiquitination of alpha4 but not of PP2Ac.
Du H et al.
Plos One, 2014
Clinical and molecular studies of patients with characteristics of Opitz G/BBB syndrome shows a novel MID1 mutation.
Hsieh EW et al.
American Journal of Medical Genetics. Part A, 2008
MID1 mutations in patients with X-linked Opitz G/BBB syndrome.
Fontanella B et al.
Human Mutation, 2008
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations.
So J et al.
American Journal of Medical Genetics. Part A, 2005
Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome.
Pinson L et al.
Journal of Medical Genetics, 2004
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