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10.1016/j.ygeno.2013.04.013 http://scihub22266oqcxt.onion/10.1016/j.ygeno.2013.04.013 C4557607!4557607 !23631824     free     free     free Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 267.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 267.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 267.2 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\23631824 .jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       Genomics 2013 ; 102 (3 ): 148-56 Nephropedia Template TP {{tp|p=23631824 |t=2013. Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome |pdf=|usr=}}{{23631824 }} gab.com Text Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome JO: Genomics http://www.kidney.de/pget.php?&tw=1&pmid=23631824 #FOAvip Mitochondrial diseases are notoriously difficult to diagnose due to extreme locus and allelic heterogeneity, with both nuclear and mitochondrial genomes potentially liable. Using exome sequencing we demonstrate the ability to rapidly and cost effectively evaluate both the nuclear and mitochondrial genomes to obtain a molecular diagnosis for four patients with three distinct mitochondrial disorders. One patient was found to have Leigh syndrome due to a mutation in MT-ATP6, two affected siblings were discovered to be compound heterozygous for mutations in the NDUFV1 gene, which causes mitochondrial complex I deficiency, and one patient was found to have coenzyme Q10 deficiency due to compound heterozygous mutations in COQ2. In all cases conventional diagnostic testing failed to identify a molecular diagnosis. We suggest that additional studies should be conducted to evaluate exome sequencing as a primary diagnostic test for mitochondrial diseases, including those due to mtDNA mutations. Twit Text FOAVip Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome ????Genomics http://www.kidney.de/pget.php?&tw=1&pmid=23631824 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=23631824 #FOAvip English Wikipedia <ref>{{Cite pmid|23631824 }}</ref> Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome #MMPMID23631824 Dinwiddie DL ; Smith LD ; Miller NA ; Atherton AM ; Farrow EG ; Strenk ME ; Soden SE ; Saunders CJ ; Kingsmore SF Genomics 2013[Sep]; 102 (3 ): 148-56 PMID23631824 show ga Mitochondrial diseases are notoriously difficult to diagnose due to extreme locus and allelic heterogeneity, with both nuclear and mitochondrial genomes potentially liable. Using exome sequencing we demonstrate the ability to rapidly and cost effectively evaluate both the nuclear and mitochondrial genomes to obtain a molecular diagnosis for four patients with three distinct mitochondrial disorders. One patient was found to have Leigh syndrome due to a mutation in MT-ATP6, two affected siblings were discovered to be compound heterozygous for mutations in the NDUFV1 gene, which causes mitochondrial complex I deficiency, and one patient was found to have coenzyme Q10 deficiency due to compound heterozygous mutations in COQ2. In all cases conventional diagnostic testing failed to identify a molecular diagnosis. We suggest that additional studies should be conducted to evaluate exome sequencing as a primary diagnostic test for mitochondrial diseases, including those due to mtDNA mutations. |*Exome [MESH] |*Genome, Mitochondrial [MESH] |*Sequence Analysis, RNA [MESH] |Ataxia/diagnosis/genetics [MESH] |Child, Preschool [MESH] |Electron Transport Complex I/deficiency/genetics [MESH] |Female [MESH] |Genetic Variation [MESH] |Heterozygote [MESH] |High-Throughput Nucleotide Sequencing [MESH] |Humans [MESH] |Infant [MESH] |Infant, Newborn [MESH] |Leigh Disease/diagnosis/genetics [MESH] |Mitochondria/genetics [MESH] |Mitochondrial Diseases/*diagnosis/genetics [MESH] |Molecular Diagnostic Techniques [MESH] |Muscle Weakness/diagnosis/genetics [MESH] |Pedigree [MESH] |Sequence Analysis, DNA [MESH]Diagnosis of mitochondrial disorders by concomitant next-generation se(epmc).pdf DeepDyve Pubget Overpricing