Textbook of Personalized Medicine - Second Edition [2015]

527 References Alan M, Grolimund E, Kutz A, et al. The ProHOSP study group. Clinical risk scores and blood biomarkers as predict ...

528 Simpson JL, Wark PA. The role of exhaled nitric oxide and exhaled breath condensates in evaluat- ing airway infl ammation in ...

K.K. Jain, Textbook of Personalized Medicine, DOI 10.1007/978-1-4939-2553-7_16, 529 © Springer Science+Business Media New York 2 ...

530 Thus, these traditional approaches had severe limitations for the identifi cation of carriers and prenatal diagnosis. The to ...

531 interpretation of certain chromosome abnormalities have largely been overcome by these new technologies, which include fl uo ...

532 signals on metaphase chromosomes. ScFISH probes are produced directly from genomic DNA, and thus more quickly than by recomb ...

533 aberrations with extraordinary precision. It will assist in the discovery of genes and markers important in cancer, and the ...

534 Biomarkers for Genetic Disorders There are a large number of genetic disorders where biomarkers are used along with molecula ...

535 Serum tests used to screen for Down’s syndrome include β-human chorionic gonadotrophin (hCG), alpha-fetoprotein (AFP), uncon ...

536 Gene expression profi ling of hind limb muscles of mouse models of muscular dystrophies can clearly discriminate between sev ...

537 by using genomic capture and DNA sequencing (Jordan et al. 2012 ). The mutations altered splicing between CARD14 exons 3 and ...

538 disease severity and is responsive to therapy. In addition to its role as a biomarker, the discovery of increased serpin-ser ...

539 Mendelian diseases are considered to be rare, yet genetic disorders are estimated to occur at a rate of 40–82 per 1,000 live ...

540 The study’s authors found that cfDNA testing >1,900 pregnant women, however, correctly fl agged trisomy 21 > 40 % of t ...

541 towards the development of appropriate models of good practice in the care of patients and their families. Monogenic disease ...

542 Study of Rare Variants in Pinpointing Disease-Causing Genes Genome-wide association studies (GWAS) use gene chips in automat ...

543 individuals with hypertriglyceridemia, compared to variants in controls, corre- sponding to a carrier frequency of 28.1 % of ...

544 Allogeneic blood or marrow transplantation (BMT) can cure SCA but is associated with an 8–10 % mortality rate, primarily fro ...

545 Myoblast transfer has been tried for treatment of DMD but the results have not been satisfactory. Stem cells are promising f ...

546 potentially be rescued by multiple exon-skipping, which employs multiple DNA- like molecules as DNA band-aids to skip over t ...