Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation.

Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation.

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http://www.wikidata.org/entity/Q51916075
Clinical and molecular delineation of the 17q21.31 microdeletion syndromeSimple and versatile molecular method of copy-number measurement using cloned competitorsComprehensive analysis of Copy Number Variation of genes at chromosome 1 and 10 loci associated with late age related macular degenerationHigh-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility.Accurate, fast and cost-effective diagnostic test for monosomy 1p36 using real-time quantitative PCR.MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations.Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia.Autistic disorder in patients with Williams-Beuren syndrome: a reconsideration of the Williams-Beuren syndrome phenotype.Spectrum of mutations in Gitelman syndrome.Submicroscopic deletions at 13q32.1 cause congenital microcoria.Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6Diagnosis of chromosomal abnormalities in a patient with thanatophoric dysplasia (TD) type I: The first report describing an important association between cytogenetic findings and TD.Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort.A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy.Whole-genome array CGH identifies pathogenic copy number variations in fetuses with major malformations and a normal karyotype.Genomic copy number analysis in mental retardation: finding the needles in the haystack.CCM molecular screening in a diagnosis context: novel unclassified variants leading to abnormal splicing and importance of large deletions
P2860

Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation.

Item
http://www.wikidata.org/entity/Q51916075
description
2006 nî lūn-bûn
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2006年の論文
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2006年学术文章
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2006年学术文章
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2006年学术文章
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name
Simple detection of genomic mi ...... idiopathic mental retardation.
@en
Simple detection of genomic mi ...... idiopathic mental retardation.
@nl
type
label
Simple detection of genomic mi ...... idiopathic mental retardation.
@en
Simple detection of genomic mi ...... idiopathic mental retardation.
@nl
prefLabel
Simple detection of genomic mi ...... idiopathic mental retardation.
@en
Simple detection of genomic mi ...... idiopathic mental retardation.
@nl
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P433
P478
P577
P5875
P698
P356
P1433
P1476
Simple detection of genomic mi ...... idiopathic mental retardation.
@en
P2093
P2860
P2888
P304
P31
P356
P433
P478
P577
P5875
P698