نتایج جستجو برای: phocomelia
تعداد نتایج: 723 فیلتر نتایج به سال:
Roberts-SC phocomelia syndrome (RS) is an autosomal recessive disorder of symmetric limb defects, craniofacial abnormalities, pre- and postnatal growth retardation, and mental retardation. Patients with RS have been reported to have premature separation of heterochromatin of many chromosomes and abnormalities in the cell-division cycle. No case has been reported who had normal intelligence and ...
EDITOR—The syndrome of thrombocytopenia and absent radius (TAR syndrome) is an autosomal recessive condition characterised by congenital hypomegakaryocytic thrombocytopenia and bilateral radial aplasia with the presence of thumbs. 2 Associated abnormalities include other skeletal defects, cardiac malformations, and gastrointestinal disorders. Lower limb abnormalities, such as coxa valga, ankylo...
In his comprehensive review, Dr. Rajkumar provides a summary of the current status of thalidomide (Thalomid) therapy in cancer. As discussed in the article, it was the teratogenic effects, particularly phocomelia, that prompted researchers to examine thalidomide’s antitumor activity in the 1960s. Although, the results of early phase I trials of thalidomide as an anticancer agent were disappoint...
Roberts syndrome/SC phocomelia (RBS) is an autosomal recessive disorder with growth retardation, craniofacial abnormalities and limb reduction. Cellular alterations in RBS include lack of cohesion at the heterochromatic regions around centromeres and the long arm of the Y chromosome, reduced growth capacity, and hypersensitivity to DNA damaging agents. RBS is caused by mutations in ESCO2, which...
Holt-Oram syndrome is an autosomal dominant disorder characterised by radial ray and congenital heart defects. Recently, a gene for this disorder has been identified on chromosome 12q24.1, encoding a T box transcription factor. However, the functional role of the gene product is not completely understood. We present results of neurological, radiological, and muscle magnetic resonance imaging (M...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید