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10.1016/j.jmoldx.2015.04.006 http://scihub22266oqcxt.onion/10.1016/j.jmoldx.2015.04.006 C4620545!4620545 !26162330     free     free     free Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Warning: imagejpeg(C:\Inetpub\vhosts\kidney.de\httpdocs\phplern\26162330 .jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       J+Mol+Diagn 2015 ; 17 (5 ): 463-71 Nephropedia Template TP {{tp|p=26162330 |t=2015. Fragile X Syndrome: Scientific Background and Screening Technologies |pdf=|usr=}}{{26162330 }} gab.com Text Fragile X Syndrome: Scientific Background and Screening Technologies JO: J Mol Diagn http://www.kidney.de/pget.php?&tw=1&pmid=26162330 #FOAvip Fragile X is the most common inherited cause of mental retardation with a prevalence of 1 in 4000 for males and 1 in 5000 to 8000 for females. The American College of Medical Genetics and Genomics has recommended diagnostic testing for fragile X in symptomatic persons, women with ovarian dysfunction, and persons with tremor/ataxia syndrome. Although medical and scientific professionals do not currently recommend screening nonsymptomatic populations, improvements in current treatment approaches and ongoing clinical trials have generated growing interest in screening for fragile X. Here, we briefly review the relevant molecular basis of fragile X and fragile X testing and compare three different molecular technologies available for fragile X screening in both males and females. These technologic approaches include destabilizing the CGG-repeat region with betaine and using chimeric CGG-targeted PCR primers, using heat pulses to destabilize C-G bonds in the PCR extension step, and using melting curve analysis to differentiate expanded CGG repeats from normals. The first two-step method performed with high sensitivity and specificity. The second method provided agarose gel images that allow identification of males with expanded CGG repeats and females with expanded CGG-repeat bands which are sometimes faint. The third melting curve analysis method would require controls in each run to correct for shifting optimal cutoff values. Twit Text FOAVip Fragile X Syndrome: Scientific Background and Screening Technologies ????J Mol Diagn http://www.kidney.de/pget.php?&tw=1&pmid=26162330 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=26162330 #FOAvip English Wikipedia <ref>{{Cite pmid|26162330 }}</ref> Fragile X Syndrome: Scientific Background and Screening Technologies #MMPMID26162330 Lyons JI ; Kerr GR ; Mueller PW J Mol Diagn 2015[Sep]; 17 (5 ): 463-71 PMID26162330 show ga Fragile X is the most common inherited cause of mental retardation with a prevalence of 1 in 4000 for males and 1 in 5000 to 8000 for females. The American College of Medical Genetics and Genomics has recommended diagnostic testing for fragile X in symptomatic persons, women with ovarian dysfunction, and persons with tremor/ataxia syndrome. Although medical and scientific professionals do not currently recommend screening nonsymptomatic populations, improvements in current treatment approaches and ongoing clinical trials have generated growing interest in screening for fragile X. Here, we briefly review the relevant molecular basis of fragile X and fragile X testing and compare three different molecular technologies available for fragile X screening in both males and females. These technologic approaches include destabilizing the CGG-repeat region with betaine and using chimeric CGG-targeted PCR primers, using heat pulses to destabilize C-G bonds in the PCR extension step, and using melting curve analysis to differentiate expanded CGG repeats from normals. The first two-step method performed with high sensitivity and specificity. The second method provided agarose gel images that allow identification of males with expanded CGG repeats and females with expanded CGG-repeat bands which are sometimes faint. The third melting curve analysis method would require controls in each run to correct for shifting optimal cutoff values. |Adult [MESH] |DNA Mutational Analysis/methods [MESH] |Female [MESH] |Fragile X Mental Retardation Protein/genetics/*physiology [MESH] |Fragile X Syndrome/*diagnosis/*genetics [MESH] |Genetic Testing/*methods [MESH] |Humans [MESH] |Male [MESH] |Mutation [MESH] |Polymerase Chain Reaction/*methods [MESH] |Sensitivity and Specificity [MESH]Fragile X Syndrome: Scientific Background and Screening Technologies (epmc).pdf DeepDyve Pubget Overpricing