|
Vitelliform Macular Dystrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Comprehensive genetic diagnosis of patients with Duchenne/Becker muscular dystrophy (DMD/BMD) and pathogenicity analysis of splice site variants in the DMD gene.
|
31379145 |
2020 |
|
Vitelliform Macular Dystrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
The medical history, anthropometric data, lumbar and femoral BMD (DXA) [considering osteoporosis (OP): T-score ⩽-2.5], TBS (considering degraded microarchitecture: <1.230) and dorsolumbar X-ray [to assess vertebral fractures (VF)] were evaluated.
|
31628810 |
2019 |
|
Vitelliform Macular Dystrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
BMD (DXA) was measured at spine (LS), total hip (TH) and femoral neck (FN).
|
30355512 |
2019 |
|
Vitelliform Macular Dystrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
However, effect on clinical outcomes in DMD and BMD patients have been disappointing with minor effects on upper limb performance and none on ambulation.
|
30352768 |
2018 |
|
Vitelliform Macular Dystrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
In this study, data from DMD/BMD patients who attended the Kuwait Medical Genetic Center during the last 20 years was retrieved from a Kuwait neuromuscular registry and analyzed.
|
29847600 |
2018 |
|
Vitelliform Macular Dystrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
Covariates included either Fracture Risk Assessment Tool (FRAX) major osteoporotic fracture probability calculated with BMD (FRAX-BMD), or individual clinical risk factors (CRF) including age, total hip BMD, race, falls, and prevalent fracture after age 50 years.
|
29624722 |
2018 |
|
Vitelliform Macular Dystrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
FRAX scores without BMD (FRAX-BMI) were calculated at time of inclusion.
|
29356845 |
2018 |
|
Vitelliform Macular Dystrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
Cross-sectional comparison enabled to identify 10 proteins discriminating between healthy controls, DMD and BMD patients.
|
29682908 |
2018 |
|
Vitelliform Macular Dystrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
CM did not correlate with mutation type, DMD or BMD phenotype, CK level, muscle symptoms, or age.
|
27761893 |
2017 |
|
Vitelliform Macular Dystrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
Compared to baseline, BMD significantly increased for S-WEIGHT in the arms (+4%, P<0.001), legs (+8%, P<0.01), pelvis (+6%, P<0.01) and lumbar spine (+4%, P<0.05), whereas BMD did not significantly change for S-CORE at any site.
|
26364686 |
2017 |
|
Vitelliform Macular Dystrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
The objective of this study was to assess the absolute levels of miR-30c and miR-181a in sera of DMD and BMD patients using digital PCR (a robust technique for precise and direct quantification of small amounts of nucleic acids without standard curves and external references), and investigate the correlation between miR-30c and miR-181a expressions and several clinical parameters.
|
27979502 |
2017 |
|
Vitelliform Macular Dystrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
We analyzed the dystrophin gene in 507 Korean DMD/BMD patients by multiple ligation-dependent probe amplification and direct sequencing.
|
27593222 |
2017 |
|
Vitelliform Macular Dystrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
Contrary to the Japanese observations of Lee et al. published in this journal, we did not find significant differences in the carrier frequency between mothers of DMD and BMD patients.
|
28680110 |
2017 |
|
Vitelliform Macular Dystrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
Here, height of ambulant and steroid naive Japanese 179 DMD and 42 BMD patients between 4 and 10 years of age was retrospectively examined using height standard deviation score (SDS).
|
28734761 |
2017 |
|
Vitelliform Macular Dystrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
This study aimed to investigate possible asymmetries and relationships between performance of dominant and non-dominant upper limbs (UL) in patients with Duchenne and Becker muscular dystrophies (DMD/BMD), to compare UL performance of patients and healthy subjects and to investigate the relationship between timed performance of UL and age, motor function and muscle strength in DMD/BMD patients.
|
28746422 |
2017 |
|
Vitelliform Macular Dystrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
However, circulating miRNAs reflecting the presence and/or disease severity of cardiac involvement in DMD/BMD patients have not been described so far.
|
27150296 |
2016 |
|
Vitelliform Macular Dystrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
We estimated that Ion Torrent sequencing could diagnose ~92% of DMD/BMD patients according to the mutational spectrum of our cohort.
|
26911353 |
2016 |
|
Vitelliform Macular Dystrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The results of our study confirmed MLPA as an efficient clinical method for detecting DMD gene mutations in DMD/BMD patients.
|
25131993 |
2015 |
|
Vitelliform Macular Dystrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
194 DMD and 35 BMD patients were registered.
|
25612904 |
2015 |
|
Vitelliform Macular Dystrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The aim of this review is to report for the correlation between dystrophin structures in BMD deletions in view of this heterogeneity and to emphasize that examining BMD patients in details is highly relevant to anticipate for DMD therapy effects.
|
26295289 |
2015 |
|
Vitelliform Macular Dystrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
The overall carrier frequency for BMD mothers was significantly higher than for DMD (89.5% vs 57.6%, P<0.05), probably as BMD patients can leave descendants.
|
24225992 |
2014 |
|
Vitelliform Macular Dystrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
As of February 2012, 583 DMD and 105 BMD patients were registered.
|
23601510 |
2013 |
|
Vitelliform Macular Dystrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The results of our study (1) confirmed MLPA to be the method of choice for detecting DMD gene rearrangements in DMD/BMD patients, (2) showed that ambiguous MLPA amplification products should be verified by other methods, and (3) indicated that the MLPA method could be used in screening even for small mutations located in the probe-binding regions.
|
23224783 |
2013 |
|
Vitelliform Macular Dystrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
We undertook the clinical feature examination and dystrophin analysis using multiplex ligation-dependent probe amplification (MLPA) and direct DNA sequencing of selected exons in a cohort of 35 Malaysian Duchenne/Becker muscular dystrophy (DMD/BMD) patients.
|
23438214 |
2013 |
|
Vitelliform Macular Dystrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This new database focuses on the dystrophin protein and its modification due to in-frame deletions in BMD patients.
|
22776072 |
2012 |