Clinical and genetic characterization of manifesting carriers of DMD mutations - Test2 - elhamkhani - TriplyDB

Clinical and genetic characterization of manifesting carriers of DMD mutations

Clinical and genetic characterization of manifesting carriers of DMD mutations

http://www.wikidata.org/entity/Q34151973

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Interventions to prevent steroid-induced osteoporosis and osteoporotic fractures in Duchenne muscular dystrophy Current and emerging treatment strategies for Duchenne muscular dystrophy The importance of genetic diagnosis for Duchenne muscular dystrophy Clinical outcome measures for trials in Duchenne muscular dystrophy: report from International Working Group meetings Induction of Pluripotent Stem Cells from a Manifesting Carrier of Duchenne Muscular Dystrophy and Characterization of Their X-Inactivation Status.The golden retriever model of Duchenne muscular dystrophy.Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease.Patterns of late gadolinium enhancement in Duchenne muscular dystrophy carriers.The effects of low levels of dystrophin on mouse muscle function and pathology Rationale for treating oedema in Duchenne muscular dystrophy with eplerenone Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype.The DMD locus harbours multiple long non-coding RNAs which orchestrate and control transcription of muscle dystrophin mRNA isoforms.Dystrophin hydrophobic regions in the pathogenesis of Duchenne and Becker muscular dystrophies.Gender differences in contractile and passive properties of mdx extensor digitorum longus muscle.Clinical and Genetic Characterization of Female Dystrophinopathy Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age Comparative Genomics of X-linked Muscular Dystrophies: The Golden Retriever Model Long noncoding RNAs, emerging players in muscle differentiation and disease.An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities.Interventions to prevent and treat corticosteroid-induced osteoporosis and prevent osteoporotic fractures in Duchenne muscular dystrophy.Knowledge of carrier status and barriers to testing among mothers of sons with Duchenne or Becker muscular dystrophy.Determining the role of skewed X-chromosome inactivation in developing muscle symptoms in carriers of Duchenne muscular dystrophy.Skewed X-chromosome inactivation plays a crucial role in the onset of symptoms in carriers of Becker muscular dystrophy.Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.Camptocormia as a late presentation in a manifesting carrier of duchenne muscular dystrophy.Oedema-fibrosis in Duchenne Muscular Dystrophy: Role of cardiovascular magnetic resonance imaging.Phenotypic Variability of Dystrophinopathy Symptomatic Female Carriers.Cardiac involvement in female Duchenne and Becker muscular dystrophy carriers in comparison to their first-degree male relatives: a comparative cardiovascular magnetic resonance study.Comparison of X-chromosome inactivation in Duchenne muscle/myocardium-manifesting carriers, non-manifesting carriers and related daughters.Muscle MRI in female carriers of dystrophinopathy.Cardiac involvement in female carriers of duchenne or becker muscular dystrophy.Muscular and cardiac manifestations in a Duchenne-carrier harboring a dystrophin deletion of exons 12-29.

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Clinical and genetic characterization of manifesting carriers of DMD mutations

http://www.wikidata.org/entity/Q34151973

description

2010 nî lūn-bûn

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2010 թուականի Յուլիսին հրատարակուած գիտական յօդուած

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2010 թվականի հուլիսին հրատարակված գիտական հոդված

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2010年の論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年论文

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name

Clinical and genetic characterization of manifesting carriers of DMD mutations

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Clinical and genetic characterization of manifesting carriers of DMD mutations

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Clinical and genetic characterization of manifesting carriers of DMD mutations

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type

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Clinical and genetic characterization of manifesting carriers of DMD mutations

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Clinical and genetic characterization of manifesting carriers of DMD mutations

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Clinical and genetic characterization of manifesting carriers of DMD mutations

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Clinical and genetic characterization of manifesting carriers of DMD mutations

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Clinical and genetic characterization of manifesting carriers of DMD mutations

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Clinical and genetic characterization of manifesting carriers of DMD mutations

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J.NMD.2010.05.010

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Neuromuscular Disorders

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Clinical and genetic characterization of manifesting carriers of DMD mutations

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Alan Pestronk

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Andrew von Niederhausern

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Brenda L Wong

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Carsten G Bönnemann

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Diane Dunn

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Eduard Gappmaier

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Jacinda B Sampson

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Jerry R Mendell

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Jonathan Zonana

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Julaine M Florence

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P2860

Comparison of X-chromosome inactivation patterns in multiple tissues from human females.

Rapid direct sequence analysis of the dystrophin gene

A survey of manifesting carriers of Duchenne and Becker muscular dystrophy in Wales.

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation.

A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation.

X chromosome-inactivation patterns of 1,005 phenotypically unaffected females.

Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes.

Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females.

No evidence that skewing of X chromosome inactivation patterns is transmitted to offspring in humans.

Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy.

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499-504

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10.1016/J.NMD.2010.05.010

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8

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20

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Kevin M. Flanigan

Payam Soltanzadeh

Katherine Mathews

Kathryn J Swoboda

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2010-07-13T00:00:00Z

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45187986

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20630757

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