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10.1016/j.ijporl.2017.04.037 http://scihub22266oqcxt.onion/10.1016/j.ijporl.2017.04.037 C5516569!5516569 !28583505     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 Warning: imagejpeg(C:\Inetpub\vhosts\kidney.de\httpdocs\phplern\28583505 .jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       Int+J+Pediatr+Otorhinolaryngol 2017 ; 98 (ä): 59-63 Nephropedia Template TP {{tp|p=28583505 |t=2017. Novel EYA1 variants causing Branchio-oto-renal syndrome |pdf=|usr=}}{{28583505 }} gab.com Text Novel EYA1 variants causing Branchio-oto-renal syndrome JO: Int J Pediatr Otorhinolaryngol http://www.kidney.de/pget.php?&tw=1&pmid=28583505 #FOAvip INTRODUCTION: Branchio-oto-renal (BOR) syndrome is an autosomal dominant genetic disorder characterized by second branchial arch anomalies, hearing impairment, and renal malformations. Pathogenic mutations have been discovered in several genes such as EYA1, SIX5, and SIX1. However, nearly half of those affected reveal no pathogenic variant by traditional genetic testing. METHODS AND MATERIALS: Whole Exome sequencing and/or Sanger sequencing performed in 10 unrelated families from Turkey, Iran, Ecuador, and USA with BOR syndrome in this study. RESULTS: We identified causative DNA variants in six families including novel c.525delT, c.979T > C, and c.1768delG and a previously reported c.1779A > T variants in EYA1. Two large heterozygous deletions involving EYA1 were detected in additional two families. Whole exome sequencing did not reveal a causative variant in the remaining four families. CONCLUSIONS: A variety of DNA changes including large deletions underlie BOR syndrome in different populations, which can be detected with comprehensive genetic testing. Twit Text FOAVip Novel EYA1 variants causing Branchio-oto-renal syndrome ????Int J Pediatr Otorhinolaryngol http://www.kidney.de/pget.php?&tw=1&pmid=28583505 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=28583505 #FOAvip English Wikipedia <ref>{{Cite pmid|28583505 }}</ref> Novel EYA1 variants causing Branchio-oto-renal syndrome #MMPMID28583505 Klingbeil KD ; Greenland CM ; Arslan S ; Llamos Paneque A ; Gurkan H ; Demir Ulusal S ; Maroofian R ; Carrera-Gonzalez A ; Montufar-Armendariz S ; Paredes R ; Elcioglu N ; Menendez I ; Behnam M ; Foster J 2nd ; Guo S ; Escarfuller S ; Cengiz FB ; Duman D ; Bademci G ; Tekin M Int J Pediatr Otorhinolaryngol 2017[Jul]; 98 (ä): 59-63 PMID28583505 show ga INTRODUCTION: Branchio-oto-renal (BOR) syndrome is an autosomal dominant genetic disorder characterized by second branchial arch anomalies, hearing impairment, and renal malformations. Pathogenic mutations have been discovered in several genes such as EYA1, SIX5, and SIX1. However, nearly half of those affected reveal no pathogenic variant by traditional genetic testing. METHODS AND MATERIALS: Whole Exome sequencing and/or Sanger sequencing performed in 10 unrelated families from Turkey, Iran, Ecuador, and USA with BOR syndrome in this study. RESULTS: We identified causative DNA variants in six families including novel c.525delT, c.979T > C, and c.1768delG and a previously reported c.1779A > T variants in EYA1. Two large heterozygous deletions involving EYA1 were detected in additional two families. Whole exome sequencing did not reveal a causative variant in the remaining four families. CONCLUSIONS: A variety of DNA changes including large deletions underlie BOR syndrome in different populations, which can be detected with comprehensive genetic testing. |Adult [MESH] |Branchio-Oto-Renal Syndrome/*genetics [MESH] |Child, Preschool [MESH] |Ecuador [MESH] |Female [MESH] |Humans [MESH] |Intracellular Signaling Peptides and Proteins/*genetics [MESH] |Iran [MESH] |Male [MESH] |Mutation [MESH] |Nuclear Proteins/*genetics [MESH] |Pedigree [MESH] |Protein Tyrosine Phosphatases/*genetics [MESH] |Sequence Analysis, DNA [MESH] |Turkey [MESH]Novel EYA1 variants causing Branchio-oto-renal syndrome (epmc).pdf DeepDyve Pubget Overpricing