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■ Abbreviation / Long Form : OS / Opitz G/BBB syndrome

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Total Number of Papers: 18
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Abbreviation:   OS  (>> Co-occurring Abbreviation)
Long Form:   Opitz G/BBB syndrome
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 Long Form Variation
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No. Year Title Co-occurring Abbreviation
2016 The MID1 protein is a central player during development and in disease. ---
2015 The Challenge of Prenatal Diagnostic Work-Up of Maternally Inherited X-Linked Opitz G/BBB: Case Report and Literature Review. XLOS
2014 A novel mutation in MID1 in a patient with X-linked Opitz G/BBB syndrome. ---
2013 Complex rearrangement of the exon 6 genomic region among Opitz G/BBB Syndrome MID1 alterations. ---
2012 A MID1 gene mutation in a patient with Opitz G/BBB syndrome that altered the 3D structure of SPRY domain. ---
2011 Control of mTORC1 signaling by the Opitz syndrome protein MID1. ---
2011 Hypospadias associated with hypertelorism, the mildest phenotype of Opitz syndrome. SNP
2011 Protein phosphatase 2A (PP2A)-specific ubiquitin ligase MID1 is a sequence-dependent regulator of translation efficiency controlling 3-phosphoinositide-dependent protein kinase-1 (PDPK-1). PDPK1, PP2A
2010 A MID1 mutation associated with reduced penetrance of X-linked Opitz G/BBB syndrome. ---
10  2010 Lack of Mid1, the mouse ortholog of the Opitz syndrome gene, causes abnormal development of the anterior cerebellar vermis. ---
11  2008 Active transport of the ubiquitin ligase MID1 along the microtubules is regulated by protein phosphatase 2A. FRAP, PP2A
12  2008 Diagnosis of a terminal deletion of 4p with duplication of Xp22.31 in a patient with findings of Opitz G/BBB syndrome and Wolf-Hirschhorn syndrome. WHS
13  2008 MID1 mutations in patients with X-linked Opitz G/BBB syndrome. LTE
14  2008 The Opitz syndrome gene product MID1 assembles a microtubule-associated ribonucleoprotein complex. EF-1alpha, PP2A, RNP
15  2007 MID1 mutation screening in a large cohort of Opitz G/BBB syndrome patients: twenty-nine novel mutations identified. ---
16  2005 Evidence of functional redundancy between MID proteins: implications for the presentation of Opitz syndrome. ---
17  1999 FXY2/MID2, a gene related to the X-linked Opitz syndrome gene FXY/MID1, maps to Xq22 and encodes a FNIII domain-containing protein that associates with microtubules. ---
18  1997 Linkage analysis in a family with the Opitz GBBB syndrome refines the location of the gene in Xp22 to a 4 cM region. ---