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
Diagnostic yield of next-generation sequencing in fetuses with isolated increased nuchal translucency: systematic review and meta-analysis.
Pauta M et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2022
Fetal exome sequencing for isolated increased nuchal translucency: should we be doing it?
Mellis R et al.
Bjog : an International Journal of Obstetrics and Gynaecology, 2022
Main genetic entities associated with supernumerary teeth.
Cammarata-Scalisi F et al.
Archivos Argentinos De Pediatria, 2018
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
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
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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