نتایج جستجو برای: facioscapulohumeralmuscular dystrophy
تعداد نتایج: 22674 فیلتر نتایج به سال:
In the current study, we conducted a mutation screening of tumor-associated calcium signal transducer 2 (TACSTD2) gene in six consanguineous Iranian families with gelatinous drop-like corneal dystrophy (GDLD), in order to find the causative mutations. Detailed eye examination was performed by ophthalmologist to confirm GDLD in patients. To detect the possible mutations, direct Sanger sequencing...
Twenty Nail Dystrophy (TND) is a rare acquired idiopathic nail dystrophy characterized by excess longitudinal ridging, distal notching, splitting, loss of nail luster and thinning of nail plates that may affect 1 to 20 nails. It occurs as a common manifestation of various dermatoses affecting the nail unit like lichen planus, psoriasis, atopic dermatitis, onychomycosis, vitiligo and alopecia ar...
Duchenne muscular dystrophy is a genetic orphan neuromuscular disease caused by mutation in the DMD gene encoding protein dystrophin. As result of developing and progressive muscle damage atrophy, children lose ability to walk, develop respiratory cardiac disorders. The core elements good care standards are early diagnosis, prevention treatment osteoporosis, daily physical therapy, regular reha...
Duchenne muscular dystrophy While the eponym, Duchenne muscular dystrophy (DMD), is applied to the most common and most severe muscular dystrophy of childhood, Duchenne was not the first to describe the condition. 10 years before Duchenne reported his first case of Duchenne dystrophy, the London physician Meryon had described the condition. However, Duchenne provided a comprehensive account of ...
PURPOSE To determine if a family in France, which manifests an autosomal dominant macular dystrophy, has North Carolina macular dystrophy (MCDR1) and to determine its possible molecular genetic relationship with the original North Carolina family. METHODS A family from Northern France with a macular dystrophy underwent comprehensive ophthalmic examinations and were ascertained for genetic stu...
Author response: prevalence of corneal dystrophies in the United States: estimates from claims data.
PURPOSE To estimate the prevalence of corneal dystrophies. METHODS Records of almost 8 million enrollees in a national managed-care network throughout the United States who had an eye care visit in 2001 to 2009 were searched for a recording of corneal dystrophy on a claim submitted by an ophthalmologist or optometrist from January 1, 2001, through December 31, 2007. RESULTS Unique individua...
LABORATORY DATA chromosomal assignment chromosome 5q localization gene, structural-functional anomalies gene analysis-DNA analysis TGFBI (CSD2) (CDGG1) (CSD) (BIGH3) transforming growth factor, beta-induced 68kD, gene chr.5q31 OCULAR DISORDERS corneal defects not including dystrophy isolated ocular defects: corneal dystrophy, isolated defects corneal dystrophy, isolated defect corneal dystrophy...
A high incidence of mitral valve prolapse (MVP) has been reported in patients with X-linked Duchenne muscular dystrophy. In our study MVP was present in six of 22 Duchenne dystrophy cases (27%) followed in the Maryland General Hospital Muscular Dystrophy Clinic. In addition, seven carriers of Duchenne and X-linked benign (Becker) dystrophy had evidence of MVP. Autosomal dominant transmission of...
PURPOSE To update the 2008 International Classification of Corneal Dystrophies (IC3D) incorporating new clinical, histopathologic, and genetic information. METHODS The IC3D reviewed worldwide peer-reviewed articles for new information on corneal dystrophies published between 2008 and 2014. Using this information, corneal dystrophy templates and anatomic classification were updated. New clinic...
In the field of ophthalmology, gene therapy has focused on hereditary retinal dystrophy, including retinitis pigmentosa. Hereditary dystrophy is a group intractable diseases for which there currently no effective treatment, and expectations are regeneration using iPS cells. recent years, results number clinical trials therapies have been reported from Europe United States. Since 2017, drugs Leb...
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