Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications.
about
Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosaAccurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis.Tissue distribution of the dystrophin-related gene product and expression in the mdx and dy mouseFine mapping of the McLeod locus (XK) to a 150-380-kb region in Xp21Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencingAnalysis of Dystrophin Gene Deletions by Multiplex PCR in Moroccan PatientsSplicing therapy for neuromuscular diseaseA new nonsyndromic X-linked sensorineural hearing impairment linked to Xp21.2.Dystrophin is transcribed in brain from a distant upstream promoter.A duchenne muscular dystrophy gene hot spot mutation in dystrophin-deficient cavalier king charles spaniels is amenable to exon 51 skipping.The polyproline site in hinge 2 influences the functional capacity of truncated dystrophins.A TaqI map of the dystrophin gene useful for deletion and carrier status analysisScreening for mutations in the muscle promoter region and for exonic deletions in a series of 115 DMD and BMD patients.Investigation of a female manifesting Becker muscular dystrophy.Identification of a new DMD gene deletion by ectopic transcript analysisPredicted and observed sizes of dystrophin in some patients with gene deletions that disrupt the open reading frame.Quantitative Southern blot analysis in the dystrophin gene of Japanese patients with Duchenne or Becker muscular dystrophy: a high frequency of duplications.Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 1. Trends across the clinical groups.Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 2. Correlations within individual patients.Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 3. Differential diagnosis and prognosis.A familial X;autosome translocation associated with Becker type muscular dystrophy?Immunohistochemical studies show truncated dystrophins in the myotubes of three fetuses at risk for Duchenne muscular dystrophySex ratio of the mutation frequencies in haemophilia A: coagulation assays and RFLP analysisBecker muscular dystrophy patient with a large intragenic dystrophin deletion: implications for functional minigenes and gene therapy.Two step procedure for early diagnosis of polycystic kidney disease with polymorphic DNA markers on both sides of the gene.Splicing mutations in DMD/BMD detected by RT-PCR/PTT: detection of a 19AA insertion in the cysteine rich domain of dystrophin compatible with BMDIdentification of carriers of Duchenne/Becker muscular dystrophy by a novel method based on detection of junction fragments in the dystrophin gene.The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol.Insertion of a 5' truncated L1 element into the 3' end of exon 44 of the dystrophin gene resulted in skipping of the exon during splicing in a case of Duchenne muscular dystrophy.Exon array CGH: detection of copy-number changes at the resolution of individual exons in the human genome.Identification of de novo mutations of Duchénnè/Becker muscular dystrophies in southern Spain.Overexpression of the cytotoxic T cell GalNAc transferase in skeletal muscle inhibits muscular dystrophy in mdx micePatterns of dystrophin gene deletion in Egyptian Duchenne/Becker muscular dystrophy patientsRisk assessment and genetic counseling in families with Duchenne muscular dystrophy.Personalized exon skipping strategies to address clustered non-deletion dystrophin mutations.Microarray MAPH: accurate array-based detection of relative copy number in genomic DNA.Happy mapping: linkage mapping using a physical analogue of meiosis.Successful bone marrow transplantation in a patient with Diamond-Blackfan anemia with co-existing Duchenne muscular dystrophy: a case reportQuality assurance for Duchenne and Becker muscular dystrophy genetic testing: development of a genomic DNA reference material panel.Genomic medicine and neurological disease.
P2860
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P2860
Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications.
description
1989 nî lūn-bûn
@nan
1989年の論文
@ja
1989年論文
@yue
1989年論文
@zh-hant
1989年論文
@zh-hk
1989年論文
@zh-mo
1989年論文
@zh-tw
1989年论文
@wuu
1989年论文
@zh
1989年论文
@zh-cn
name
Topography of the Duchenne mus ...... deletions and 13 duplications.
@en
type
label
Topography of the Duchenne mus ...... deletions and 13 duplications.
@en
prefLabel
Topography of the Duchenne mus ...... deletions and 13 duplications.
@en
P2093
P2860
P1476
Topography of the Duchenne mus ...... deletions and 13 duplications.
@en
P2093
Blonden LA
Den Dunnen JT
Ginjaar HB
Grootscholten PM
Pearson PL
Wapenaar MC
van Broeckhoven C
van Ommen GJ
van Paassen HM
P2860
P304
P407
P577
1989-12-01T00:00:00Z