Condition: Cohen syndrome


rs386834069 in COX6C;VPS13B gene and Cohen syndrome PMID 19006247 2009 Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.

PMID 15141358 2004 Delineation of Cohen syndrome following a large-scale genotype-phenotype screen.

PMID 27533158 2016 Modeled Fetal Risk of Genetic Diseases Identified by Expanded Carrier Screening.

PMID 20461111 2010 High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.

rs1057516633 in VPS13B gene and Cohen syndrome PMID 20683995 2010 Cerebellar hypoplasia and Cohen syndrome: a confirmed association.

PMID 15141358 2004 Delineation of Cohen syndrome following a large-scale genotype-phenotype screen.

PMID 15154116 2004 Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome.

PMID 15211651 2004 Cohen syndrome in the Ohio Amish.

PMID 19006247 2009 Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.

PMID 12730828 2003 Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport.

PMID 16648375 2006 Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.

PMID 15173253 2004 Broader geographical spectrum of Cohen syndrome due to COH1 mutations.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 17786118 2007 High prevalence of Cohen syndrome among Irish travellers.

PMID 20461111 2010 High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.

PMID 23188044 2013 Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis.

PMID 20656880 2010 Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome.

PMID 16917849 2006 Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation.

PMID 21865173 2011 Cohen syndrome-associated protein, COH1, is a novel, giant Golgi matrix protein required for Golgi integrity.

PMID 21659346 2011 Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations.

PMID 22527104 2012 Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancer.

PMID 25472526 2015 Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland.

PMID 22855652 2012 Two Novel COH1 Mutations in an Italian Patient with Cohen Syndrome.

PMID 27533158 2016 Modeled Fetal Risk of Genetic Diseases Identified by Expanded Carrier Screening.

PMID 17990063 2007 Clinical and molecular characterization of Italian patients affected by Cohen syndrome.

PMID 23352163 2013 Using whole-exome sequencing to identify inherited causes of autism.

PMID 24334764 2014 Cohen syndrome is associated with major glycosylation defects.

PMID 15691367 2005 COH1 analysis and linkage study in two Japanese families with Cohen syndrome.

PMID 26395554 2016 Mosaic parental germline mutations causing recurrent forms of malformations of cortical development.

PMID 25356970 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

PMID 22382802 2012 Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders.

PMID 25271213 2014 Efficient application of next-generation sequencing for the diagnosis of rare genetic syndromes.

rs180177374 in VPS13B;COX6C gene and Cohen syndrome PMID 15141358 2004 Delineation of Cohen syndrome following a large-scale genotype-phenotype screen.