In the introductory chapter, current genetic paradigms and experimental genetic approaches relevant to the nature of hereditary disorders are discussed. The ... S Kohl,U Langenbeck,B Wissinger,... - Butterworth, 被引量: 5发表: 1951年 Gene therapy in age related and hereditary macular disorders ...
Genetic disorders can be caused by amutation in one gene (monogenic disorder), by mutations in multiple genes (multifactorial inheritance disorder), by a combination of gene mutations and environmental factors, or by damage to chromosomes (changes in the number or structure of entire chromosomes, t...
Cur- rent information on test availability and links to the labora- tories offering testing can be found at Genetests.org. Genetic disorders of connective tissue comprise a rapidly expanding list of Mendelian syndromes that can manifest with significantly overlapping clinical findings, especially ...
Gene therapy and gene editing are revolutionising the treatment of genetic diseases, most notably haematological disorders. This paper evaluates the use of both techniques in hereditary blood disorders. Many studies have been conducted in this field, especially with gene therap...
Other Rare Hereditary Disorders of Lipid Metabolism - Learn about the causes, symptoms, diagnosis & treatment from the Merck Manuals - Medical Consumer Version.
PTEN hamartoma tumour syndrome (PHTS) consists of a group of disorders caused by germline mutations in the phosphatase and tensin homolog (PTEN) gene located at 10q23.31. They include Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome (BRRS), PTEN-related Proteus syndrome, Proteus-like syndrome,...
Hereditary diffuse gastric cancer(HDGC) is a kind of malignant gastric cancer that is difficult to find in the early stage. However, this late onset and incomplete penetrance hereditary cancer, and its prenatal diagnosis have rarely been reported previou
Institutes of Health (NIH) Rare Diseases Clinical Research Network (RDCRN), supported through collaboration between the NIH Office of Rare Diseases Research (ORDR) at the National Center for Advancing Translational Science (NCATS), and the National Institute of Neurological Disorders and Stroke (NINDS...
et al. Conversion of diploidy to haploidy: individuals susceptible to multigene disorders may now be spotted more easily. Nature.2000;403:723-724.http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?db=m&form=6&Dopt=r&uid=entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=10693791&do...
The clustered regularly interspaced short palindromic repeats/CRISPR-associated protein 9 (CRISPR/Cas9) system is a versatile and convenient genome-editing tool with prospects in gene therapy. This technique is based on customized site-specific nucleases