|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.
|
28424332 |
2017 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.
|
28424332 |
2017 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
0.900 |
Biomarker
|
disease |
MGD |
Degree of Cajal-Retzius Cell Mislocalization Correlates with the Severity of Structural Brain Defects in Mouse Models of Dystroglycanopathy.
|
26306834 |
2016 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
|
26938784 |
2016 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Clinical features and molecular characterization of a patient with muscle-eye-brain disease: a novel mutation in the POMGNT1 gene.
|
24282183 |
2014 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Clinical, radiological, and genetic survey of patients with muscle-eye-brain disease caused by mutations in POMGNT1.
|
24731844 |
2014 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel.
|
23326386 |
2013 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients.
|
23689641 |
2013 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
0.900 |
Biomarker
|
disease |
MGD |
A phenotype survey of 36 mutant mouse strains with gene-targeted defects in glycosyltransferases or glycan-binding proteins.
|
23118208 |
2013 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel.
|
23326386 |
2013 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.
|
22323514 |
2012 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Novel retinal findings in an infant with muscle-eye-brain disease.
|
25390965 |
2012 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease.
|
22554691 |
2012 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O.
|
22419172 |
2012 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.
|
22323514 |
2012 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Biochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease.
|
21361872 |
2011 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Biochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease.
|
21361872 |
2011 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.
|
19299310 |
2009 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.
|
19299310 |
2009 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
An unusual presentation of muscle-eye-brain disease: severe eye abnormalities with mild muscle and brain involvement.
|
19679478 |
2009 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.
|
19299310 |
2009 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.
|
19067344 |
2008 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy.
|
18330676 |
2008 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy.
|
18330676 |
2008 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.
|
17906881 |
2007 |