Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis.
about
High frequency of large intragenic deletions in the Fanconi anemia group A gene.Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organsImpact of carrier status determination for Duchenne/Becker muscular dystrophy by computer-assisted laser densitometry.BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.Identification 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.Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counsellingHaploinsufficiency of insulin gene enhancer protein 1 (ISL1) is associated with d-transposition of the great arteries.Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments.Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.Genetic components of perinatal morbidity and mortality.The detection of large deletions or duplications in genomic DNA.Identification and quantification of somatic mosaicism for a point mutation in a Duchenne muscular dystrophy familyUniversal primer quantitative fluorescent multiplex (UPQFM) PCR: a method to detect major and minor rearrangements of the low density lipoprotein receptor geneA comparison of methods for gene dosage analysis in HMSN type 1.Genetic analysis of dystrophin gene for affected male and female carriers with Duchenne/Becker muscular dystrophy in Korea.A larger spectrum of intragenic short tandem repeats improves linkage analysis and localization of intragenic recombination detection in the dystrophin gene: an analysis of 93 families from southern Italy.Sensitive detection of deletions of one or more exons in the neurofibromatosis type 2 (NF2) gene by multiplexed gene dosage polymerase chain reaction.Utility of MLPA in mutation analysis and carrier detection for Duchenne muscular dystrophy.Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.Carrier detection in Duchenne muscular dystrophy using molecular methods.MLPA and MAPH: sensitive detection of deletions and duplications.Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization.Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy.De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot.Evaluation of multiplex ligation-dependent probe amplification analysis versus multiplex polymerase chain reaction assays in the detection of dystrophin gene rearrangements in an Iranian population subset.Role of genetic testing in the management of patients with inherited porphyria and their families.Deletion and reduced expression of the Fanconi anemia FANCA gene in sporadic acute myeloid leukemia.Generation and Characterization of a Transgenic Mouse Carrying a Functional Human β -Globin Gene with the IVSI-6 Thalassemia Mutation.Prenatal diagnosis of Duchenne and Becker muscular dystrophy.Large genomic rearrangements in the CFTR gene contribute to CBAVD.Genotype-phenotype correlations for nervous system tumors in neurofibromatosis 2: a population-based study.FRA18C: a new aphidicolin-inducible fragile site on chromosome 18q22, possibly associated with in vivo chromosome breakage.Capillary electrophoresis for analysis of deletion and duplication in exon 44-55 of Duchenne muscular dystrophy gene.Spectrum of RB1 mutations identified in 403 retinoblastoma patients.Twenty-five novel mutations including duplications in the ATP7A gene.Deletion and duplication screening in the DMD gene using MLPA.Molecular characterization of exonic rearrangements and frame shifts in the dystrophin gene in Duchenne muscular dystrophy patients in a Saudi community.Mosaic DCX deletion causes subcortical band heterotopia in males
P2860
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P2860
Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis.
description
1996 nî lūn-bûn
@nan
1996 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
Accurate diagnosis of carriers ...... by fluorescent dosage analysis
@nl
Accurate diagnosis of carriers ...... y fluorescent dosage analysis.
@ast
Accurate diagnosis of carriers ...... y fluorescent dosage analysis.
@en
Accurate diagnosis of carriers ...... y fluorescent dosage analysis.
@en-gb
type
label
Accurate diagnosis of carriers ...... by fluorescent dosage analysis
@nl
Accurate diagnosis of carriers ...... y fluorescent dosage analysis.
@ast
Accurate diagnosis of carriers ...... y fluorescent dosage analysis.
@en
Accurate diagnosis of carriers ...... y fluorescent dosage analysis.
@en-gb
prefLabel
Accurate diagnosis of carriers ...... by fluorescent dosage analysis
@nl
Accurate diagnosis of carriers ...... y fluorescent dosage analysis.
@ast
Accurate diagnosis of carriers ...... y fluorescent dosage analysis.
@en
Accurate diagnosis of carriers ...... y fluorescent dosage analysis.
@en-gb
P2093
P2860
P356
P1476
Accurate diagnosis of carriers ...... y fluorescent dosage analysis.
@en
P2093
P2860
P304
P356
10.1136/JMG.33.7.550
P407
P577
1996-07-01T00:00:00Z