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10.1097/MOP.0000000000000358 http://scihub22266oqcxt.onion/10.1097/MOP.0000000000000358 C4904788!4904788 !27070443     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=27070443 &cmd=llinks): Failed to open stream: HTTP request failed! HTTP/1.1 429 Too Many Requests in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 215 Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 209.6 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\27070443 .jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       Curr+Opin+Pediatr 2016 ; 28 (3 ): 339-47 Nephropedia Template TP {{tp|p=27070443 |t=2016. The evolving spectrum of ciliopathies and respiratory disease |pdf=|usr=}}{{27070443 }} gab.com Text The evolving spectrum of ciliopathies and respiratory disease JO: Curr Opin Pediatr http://www.kidney.de/pget.php?&tw=1&pmid=27070443 #FOAvip PURPOSE OF REVIEW: Research on the biology of cilia, complex hair-like cellular organelles, has greatly informed our understanding of its crucial role in respiratory health and the pathogenesis of primary ciliary dyskinesia (PCD), including the genetics behind this condition. This review will summarize the current state of the art in the field highlighting its clinical implications. RECENT FINDINGS: The genetics of PCD have exploded over the past few years as knowledge acquired from model systems has permitted the identification of genes that are key components of the ciliary apparatus and its function. In addition, clinical criteria and diagnostic tools have emerged that permit more clear identification of affected individuals. SUMMARY: The rate of progress in the field continues to accelerate through international collaborative efforts and standardization of methods. Although the genetics behind PCD are complex, given the large number of genes associated with disease, as well as the large number of possible mutations even at the individual gene level, this knowledge is rapidly translating in improved diagnostics and hopefully in the near future in the identification of potential therapeutics. Twit Text FOAVip The evolving spectrum of ciliopathies and respiratory disease ????Curr Opin Pediatr http://www.kidney.de/pget.php?&tw=1&pmid=27070443 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=27070443 #FOAvip English Wikipedia <ref>{{Cite pmid|27070443 }}</ref> The evolving spectrum of ciliopathies and respiratory disease #MMPMID27070443 Milla CE Curr Opin Pediatr 2016[Jun]; 28 (3 ): 339-47 PMID27070443 show ga PURPOSE OF REVIEW: Research on the biology of cilia, complex hair-like cellular organelles, has greatly informed our understanding of its crucial role in respiratory health and the pathogenesis of primary ciliary dyskinesia (PCD), including the genetics behind this condition. This review will summarize the current state of the art in the field highlighting its clinical implications. RECENT FINDINGS: The genetics of PCD have exploded over the past few years as knowledge acquired from model systems has permitted the identification of genes that are key components of the ciliary apparatus and its function. In addition, clinical criteria and diagnostic tools have emerged that permit more clear identification of affected individuals. SUMMARY: The rate of progress in the field continues to accelerate through international collaborative efforts and standardization of methods. Although the genetics behind PCD are complex, given the large number of genes associated with disease, as well as the large number of possible mutations even at the individual gene level, this knowledge is rapidly translating in improved diagnostics and hopefully in the near future in the identification of potential therapeutics. |Cilia/genetics/*physiology [MESH] |Genetic Markers [MESH] |Genetic Predisposition to Disease [MESH] |Genetic Testing [MESH] |Humans [MESH] |Kartagener Syndrome/*diagnosis/genetics/physiopathology [MESH] |Mutation/*genetics [MESH] |Respiration Disorders/*diagnosis/genetics/physiopathology [MESH]The evolving spectrum of ciliopathies and respiratory disease (epmc).pdf DeepDyve Pubget Overpricing