Published in Eur J Med Genet on July 04, 2008
Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis. Hum Mol Genet (2010) 3.64
MicroRNAs: master regulators of ethanol abuse and toxicity? Alcohol Clin Exp Res (2010) 1.44
Epigenotype-phenotype correlations in Silver-Russell syndrome. J Med Genet (2010) 1.24
Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome. PLoS One (2013) 1.04
Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome. Arch Ophthalmol (2011) 1.04
Silver-Russell syndrome: genetic basis and molecular genetic testing. Orphanet J Rare Dis (2010) 1.02
Haploinsufficiency of ANKRD11 (16q24.3) Is Not Obligatorily Associated with Cognitive Impairment but Shows a Clinical Overlap with Silver-Russell Syndrome. Mol Syndromol (2013) 0.82
Anderson's disease/chylomicron retention disease in a Japanese patient with uniparental disomy 7 and a normal SAR1B gene protein coding sequence. Orphanet J Rare Dis (2011) 0.80
Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular Etiology. Mol Syndromol (2016) 0.75
Familial 1.3-Mb 11p15.5p15.4 Duplication in Three Generations Causing Silver-Russell and Beckwith-Wiedemann Syndromes. Mol Syndromol (2015) 0.75
Myoclonus-dystonia and Silver-Russell syndrome resulting from maternal uniparental disomy of chromosome 7. Clin Genet (2013) 0.75
Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction. Mol Cytogenet (2017) 0.75