Hpv whole genome sequencing, Most Downloaded Articles


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hpv whole genome sequencing The most frequently deleted exon was exon 45 and the most frequent duplication involved exonsconfirming the presence of the two hotspot mutation regions reported in the literature. Mutations detected in our study have a slightly different location compared to literature data. Cel mai frecvent deletat exon a fost exonul 45 şi cea mai frecventă duplicaţie a implicat exoniiconfirmând prezenţa celor două regiuni critice mutaţionale raportate în literatură.

Mutaţiile detectate în studiul nostru au avut o localizare uşor diferită comparativ cu datele din literatură.

Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes. PLoS One.

Revista Romana de Medicina de Laborator

DOI: Microarray-based mutation detection in the dystrophin gene. Hum Mutat. Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy. Orphanet J Rare Dis. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus.

Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule. Muscle Nerve. Strategy for comprehensive molecular testing for Duchenne and Becker muscular dystrophies. Genet Test. Schwartz M, Duno M. Improved molecular diagnosis of dystrophin gene mutations using the multiplex ligation- dependent probe amplification method.

MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls. Comparativehigh resolution melting: a novel method of simultaneous screening for small mutations and copy number variations. Hum Genet. Automated sequence screening of the entire dystrophin cDNA in Duchenne dystrophy: point mutation detection.

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Whole dystrophin hpv whole genome sequencing analysis by next-generation sequencing: a comprehensive genetic diagnosis of Duchenne and Becker muscular dystrophy.

Mol Genet Genomics. Risk assessment and genetic counseling in families with Duchenne muscular dystrophy. Acta Myol. Google Scholar Molecular diagnosis of duchenne muscular dystrophy: past, present and future in relation to implementing therapies.

Clin Biochem Rev. Copy number variation in the genome; the human DMD gene as an example. Cytogenet Genome Res.

hpv whole genome sequencing

Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort. Am J Med Genet A. DGGE analysis hpv whole genome sequencing a tool to identify point mutations, de novo mutations and carriers of the dystrophin gene.

Neuromuscul Disord. J Hum Genet. Comprehensive detection of hpv whole genome sequencing duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization.

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Am J Hum Genet. Duplications in the DMD gene. Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients. Simultaneous MLPA-based multiplex point mutation and deletion analysis of the dystrophin gene.

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Mol Biotechnol. The medical genetics of dystrophinopathies: molecular genetic diagnosis and its impact on clinical practice. ISRN Neurol.

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Experience and strategy for the molecular testing of Duchenne muscular dystrophy. J Mol Diagn. Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification MLPA.

N Engl J Med.