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■ Abbreviation / Long Form : GMS / Galloway-Mowat syndrome

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Total Number of Papers: 13
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Abbreviation:   GMS  (>> Co-occurring Abbreviation)
Long Form:   Galloway-Mowat syndrome
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No. Year Title Co-occurring Abbreviation
2018 Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings. CNS, DDH, ERG, ESRD
2017 An Amish founder mutation disrupts a PI(3)P-WHAMM-Arp2/3 complex-driven autophagosomal remodeling pathway. ---
2017 Galloway-mowat syndrome - unusual form of nephrotic syndrome in adolescent. ---
2017 WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family. ---
2016 Collapsing Glomerulopathy in a Child with Galloway-Mowat Syndrome. ---
2015 WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease. CA, CAMOS
2012 Infantile nephrotic syndrome with microcephaly and global developmental delay: the Galloway Mowat Syndrome. PCR
2010 Galloway-Mowat syndrome: an early-onset progressive encephalopathy with intractable epilepsy associated to renal impairment. Two novel cases and review of literature. ---
2008 Analysis of genes encoding laminin beta2 and related proteins in patients with Galloway-Mowat syndrome. ACTN4, ITGA3, ITGB1, LAMA5, LAMB2, PS
10  2008 Collapsing glomerulopathy in Galloway-Mowat syndrome: a case report and review of the literature. ---
11  2005 Late-onset growth restriction in Galloway-Mowat syndrome: a case report. ---
12  2005 Late-onset nephrotic syndrome and severe cerebellar atrophy in Galloway-Mowat syndrome. ---
13  1999 Late-onset nephrotic syndrome in galloway-mowat syndrome: a case report. ---