Results 91 to 100 of about 51,591 (290)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu +23 more
wiley +1 more source
The role of lamin A and emerin in mediating genome organisation [PDF]
, 2010 This thesis was submitted for the degree of Doctor of Philosophy and awarded by Brunel University.The nuclear matrix (NM) is proposed to be a permanent network of core filaments underlying thicker fibres, present regardless of transcriptional activity ...
Godwin, Lauren Sarah
core
Expanding the Utility of Exome Sequencing in Preventive and Population Genetics
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas +6 more
wiley +1 more source
A novel complex mutation event in the peripherin/rds gene in a family with retinal pattern dystrophy
, 2006 Purpose: To report a complex mutation in the peripherin/RDS gene found in a family in whom retinal pattern dystrophy is segregating as an autosomal dominant trait.
Schipper, Isaak +6 more
core +1 more source
Dystrophic muscle distribution in late-stage muscular dystrophy
, 2020 There is scant information about the comprehensive distribution of dystrophic muscles in muscular dystrophy. Despite different clinical presentations of muscular dystrophy, a recent multi-center study concluded that phenotypic distribution of dystrophic ...
Hope Theresa +21 more
core +1 more source
Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll +2 more
wiley +1 more source
Variants in CFAP410 cause a range of retinal and skeletal phenotypes
npj Genomic MedicineCiliopathies are associated with a range of phenotypes including retinal degeneration and skeletal abnormalities. We present a retrospective study of 49 patients with variants in Cilia and Flagella Associated Protein 410 (CFAP410) from multiple ...
Ryan E. Schmidt +48 more
doaj +1 more source
Metabolic Patterns in Experimentally Induced Muscular Dystrophy.
Experimental Biology and Medicine, 1953 Summary1. A study has been made of the metabolic patterns of rabbits with muscular dystrophy due to vit. E-deficiency and to chronic overdosage with cortisone. Both conditions are characterized by an increased urinary excretion of creatine, nitrogen, potassium and calcium.
A E, MILMAN, A T, MILHORAT
openaire +2 more sources
Animal Models and Experimental Medicine, EarlyView.We applied quantitative MRI of the lower limb and automated home‐cage phenotyping to a mouse model of calpainopathy to detect early disease changes. At 15 months, calpain 3‐deficient mice showed increased water T2 values correlating with immune cell infiltration in the soleus and gastrocnemius muscles, while assessment of motor activity revealed only ...
Nicolina Südkamp +12 more
wiley +1 more source
Animal Models and Experimental Medicine, EarlyView.This graphical abstract illustrates the essential role of USB1 in neutrophil maturation. In normal myeloid cells, USB1 acts as an RNA exonuclease, trimming RNA tails to maintain proper RNA network function, which supports the differentiation of myeloid progenitor cells into mature neutrophils.
Hang Li +6 more
wiley +1 more source