Associated Papers
[Clinical feature and genetic analysis of a child with X-linked Opitz G/BBB syndrome caused by nonsense variant in the MID1 gene mediated by mRNA degradation escape].
Yan Y et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2025
Opitz GBBB syndrome with total anomalous pulmonary venous connection: A new MID1 gene variant.
Perea-Cabrera M et al.
Molecular Genetics & Genomic Medicine, 2023
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
MID1 mutation screening in a large cohort of Opitz G/BBB syndrome patients: twenty-nine novel mutations identified.
Ferrentino R et al.
Human Mutation, 2007
X-linked Opitz G/BBB syndrome: identification of a novel mutation and prenatal diagnosis in a Korean family.
Cho HJ et al.
Journal of Korean Medical Science, 2006
Neonatal teeth in X-linked Opitz (G/BBB) syndrome.
Shaw A et al.
Clinical Dysmorphology, 2006
Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome.
Pinson L et al.
Journal of Medical Genetics, 2004
X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum.
De Falco F et al.
American Journal of Medical Genetics. Part A, 2003
New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome.
Cox TC et al.
Human Molecular Genetics, 2000
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