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10.1155/2014/424796 http://scihub22266oqcxt.onion/10.1155/2014/424796 C4052700!4052700 !24949445     free     free     free Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 263.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 263.2 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\24949445 .jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       Biomed+Res+Int 2014 ; 2014 (ä): 424796 Nephropedia Template TP {{tp|p=24949445 |t=2014. The analysis of genetic aberrations in children with inherited neurometabolic and neurodevelopmental disorders |pdf=|usr=}}{{24949445 }} gab.com Text The analysis of genetic aberrations in children with inherited neurometabolic and neurodevelopmental disorders JO: Biomed Res Int http://www.kidney.de/pget.php?&tw=1&pmid=24949445 #FOAvip Inherited encephalopathies include a broad spectrum of heterogeneous disorders. To provide a correct diagnosis, an integrated approach including genetic testing is warranted. We report seven patients with difficult to diagnose inborn paediatric encephalopathies. The diagnosis could not be attained only by means of clinical and laboratory investigations and MRI. Additional genetic testing was required. Cytogenetics, PCR based tests, and array-based comparative genome hybridization were performed. In 4 patients with impaired language abilities we found the presence of microduplication in the region 16q23.1 affecting two dose-sensitive genes: WWOX (OMIM 605131) and MAF (OMIM 177075) (1 case), an interstitial deletion of the 17p11.2 region (2 patients further diagnosed as Smith-Magenis syndrome), and deletion encompassing first three exons of Myocyte Enhancer Factor gene 2MEF2C (1 case). The two other cases represented progressing dystonia. Characteristic GAG deletion in DYT1 consistently with the diagnosis of torsion dystonia was confirmed in 1 case. Last enrolled patient presented with clinical picture consistent with Krabbe disease confirmed by finding of two pathogenic variants of GALC gene and the absence of mutations in PSAP. The integrated diagnostic approach including genetic testing in selected examples of complicated hereditary diseases of the brain is largely discussed in this paper. Twit Text FOAVip The analysis of genetic aberrations in children with inherited neurometabolic and neurodevelopmental disorders ????Biomed Res Int http://www.kidney.de/pget.php?&tw=1&pmid=24949445 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=24949445 #FOAvip English Wikipedia <ref>{{Cite pmid|24949445 }}</ref> The analysis of genetic aberrations in children with inherited neurometabolic and neurodevelopmental disorders #MMPMID24949445 Szyma?ska K ; Szcza?uba K ; Lugowska A ; Obersztyn E ; Radkowski M ; Nowakowska BA ; Ku?mierska K ; Tryfon J ; Demkow U Biomed Res Int 2014[]; 2014 (ä): 424796 PMID24949445 show ga Inherited encephalopathies include a broad spectrum of heterogeneous disorders. To provide a correct diagnosis, an integrated approach including genetic testing is warranted. We report seven patients with difficult to diagnose inborn paediatric encephalopathies. The diagnosis could not be attained only by means of clinical and laboratory investigations and MRI. Additional genetic testing was required. Cytogenetics, PCR based tests, and array-based comparative genome hybridization were performed. In 4 patients with impaired language abilities we found the presence of microduplication in the region 16q23.1 affecting two dose-sensitive genes: WWOX (OMIM 605131) and MAF (OMIM 177075) (1 case), an interstitial deletion of the 17p11.2 region (2 patients further diagnosed as Smith-Magenis syndrome), and deletion encompassing first three exons of Myocyte Enhancer Factor gene 2MEF2C (1 case). The two other cases represented progressing dystonia. Characteristic GAG deletion in DYT1 consistently with the diagnosis of torsion dystonia was confirmed in 1 case. Last enrolled patient presented with clinical picture consistent with Krabbe disease confirmed by finding of two pathogenic variants of GALC gene and the absence of mutations in PSAP. The integrated diagnostic approach including genetic testing in selected examples of complicated hereditary diseases of the brain is largely discussed in this paper. |*Genetic Testing [MESH] |Adolescent [MESH] |Brain Diseases, Metabolic/*diagnosis/genetics/pathology [MESH] |Child [MESH] |Child, Preschool [MESH] |Chromosomes, Human, Pair 16/genetics [MESH] |Comparative Genomic Hybridization/methods [MESH] |Cytodiagnosis/*methods [MESH] |Female [MESH] |Genes, Duplicate [MESH] |Humans [MESH] |Male [MESH] |Mutation [MESH]The analysis of genetic aberrations in children with inherited neurome(epmc).pdf DeepDyve Pubget Overpricing