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10.1038/gim.2016.158 http://scihub22266oqcxt.onion/10.1038/gim.2016.158 27735924!6377944!27735924     free     free     free Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Genet+Med 2017 ; 19 (6): 643-651 Nephropedia Template TP {{tp|p=27735924|t=2017. Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations |pdf=|usr=}}{{27735924}} gab.com Text Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations JO: Genet Med http://www.kidney.de/pget.php?&tw=1&pmid=27735924 #FOAvip PURPOSE: Despite substantial progress in sequencing, current strategies can genetically solve only approximately 55-60% of inherited retinal degeneration (IRD) cases. This can be partially attributed to elusive mutations in the known IRD genes, which are not easily identified by the targeted next-generation sequencing (NGS) or Sanger sequencing approaches. We hypothesized that copy-number variations (CNVs) are a major contributor to the elusive genetic causality of IRDs. METHODS: Twenty-eight cases previously unsolved with a targeted NGS were investigated with whole-genome single-nucleotide polymorphism (SNP) and comparative genomic hybridization (CGH) arrays. RESULTS: Deletions in the IRD genes were detected in 5 of 28 families, including a de novo deletion. We suggest that the de novo deletion occurred through nonallelic homologous recombination (NAHR) and we constructed a genomic map of NAHR-prone regions with overlapping IRD genes. In this article, we also report an unusual case of recessive retinitis pigmentosa due to compound heterozygous mutations in SNRNP200, a gene that is typically associated with the dominant form of this disease. CONCLUSIONS: CNV mapping substantially increased the genetic diagnostic rate of IRDs, detecting genetic causality in 18% of previously unsolved cases. Extending the search to other structural variations will probably demonstrate an even higher contribution to genetic causality of IRDs.Genet Med advance online publication 13 October 2016. Twit Text FOAVip Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations ????Genet Med http://www.kidney.de/pget.php?&tw=1&pmid=27735924 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=27735924 #FOAvip English Wikipedia <ref>{{Cite pmid|27735924}}</ref> Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations #MMPMID27735924 Bujakowska KM; Fernandez-Godino R; Place E; Consugar M; Navarro-Gomez D; White J; Bedoukian EC; Zhu X; Xie HM; Gai X; Leroy BP; Pierce EA Genet Med 2017[Jun]; 19 (6): 643-651 PMID27735924show ga PURPOSE: Despite substantial progress in sequencing, current strategies can genetically solve only approximately 55-60% of inherited retinal degeneration (IRD) cases. This can be partially attributed to elusive mutations in the known IRD genes, which are not easily identified by the targeted next-generation sequencing (NGS) or Sanger sequencing approaches. We hypothesized that copy-number variations (CNVs) are a major contributor to the elusive genetic causality of IRDs. METHODS: Twenty-eight cases previously unsolved with a targeted NGS were investigated with whole-genome single-nucleotide polymorphism (SNP) and comparative genomic hybridization (CGH) arrays. RESULTS: Deletions in the IRD genes were detected in 5 of 28 families, including a de novo deletion. We suggest that the de novo deletion occurred through nonallelic homologous recombination (NAHR) and we constructed a genomic map of NAHR-prone regions with overlapping IRD genes. In this article, we also report an unusual case of recessive retinitis pigmentosa due to compound heterozygous mutations in SNRNP200, a gene that is typically associated with the dominant form of this disease. CONCLUSIONS: CNV mapping substantially increased the genetic diagnostic rate of IRDs, detecting genetic causality in 18% of previously unsolved cases. Extending the search to other structural variations will probably demonstrate an even higher contribution to genetic causality of IRDs.Genet Med advance online publication 13 October 2016. |*DNA Copy Number Variations[MESH] |Adolescent[MESH] |Child[MESH] |Chromosome Mapping[MESH] |Cohort Studies[MESH] |Comparative Genomic Hybridization[MESH] |Family Health[MESH] |Female[MESH] |Gene Deletion[MESH] |Genetic Predisposition to Disease[MESH] |Genome[MESH] |Humans[MESH] |Male[MESH] |Middle Aged[MESH] |Polymorphism, Single Nucleotide[MESH]Copy-number variation is an important contributor to the genetic causa(epmc).pdf DeepDyve Pubget Overpricing