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10.1038/ncomms8870 http://scihub22266oqcxt.onion/10.1038/ncomms8870 C4519989!4519989!26216346     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 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       Nat+Commun 2015 ; 6 (ä): ä Nephropedia Template TP {{tp|p=26216346|t=2015. Mutations in CDCA7 and HELLS cause immunodeficiency?centromeric instability?facial anomalies syndrome |pdf=|usr=}}{{26216346}} gab.com Text Mutations in CDCA7 and HELLS cause immunodeficiency centromeric instability facial anomalies syndrome JO: Nat Commun http://www.kidney.de/pget.php?&tw=1&pmid=26216346 #FOAvip The life-threatening Immunodeficiency, Centromeric Instability and Facial Anomalies (ICF) syndrome is a genetically heterogeneous autosomal recessive disorder. Twenty percent of patients cannot be explained by mutations in the known ICF genes DNA methyltransferase 3B or zinc-finger and BTB domain containing 24. Here we report mutations in the cell division cycle associated 7 and the helicase, lymphoid-specific genes in 10 unexplained ICF cases. Our data highlight the genetic heterogeneity of ICF syndrome; however, they provide evidence that all genes act in common or converging pathways leading to the ICF phenotype. Twit Text FOAVip Mutations in CDCA7 and HELLS cause immunodeficiency centromeric instability facial anomalies syndrome ????Nat Commun http://www.kidney.de/pget.php?&tw=1&pmid=26216346 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=26216346 #FOAvip English Wikipedia <ref>{{Cite pmid|26216346}}</ref> Mutations in CDCA7 and HELLS cause immunodeficiency?centromeric instability?facial anomalies syndrome #MMPMID26216346 Thijssen PE; Ito Y; Grillo G; Wang J; Velasco G; Nitta H; Unoki M; Yoshihara M; Suyama M; Sun Y; Lemmers RJLF; de Greef JC; Gennery A; Picco P; Kloeckener-Gruissem B; Güngör T; Reisli I; Picard C; Kebaili K; Roquelaure B; Iwai T; Kondo I; Kubota T; van Ostaijen-Ten Dam MM; van Tol MJD; Weemaes C; Francastel C; van der Maarel SM; Sasaki H Nat Commun 2015[]; 6 (ä): ä PMID26216346show ga The life-threatening Immunodeficiency, Centromeric Instability and Facial Anomalies (ICF) syndrome is a genetically heterogeneous autosomal recessive disorder. Twenty percent of patients cannot be explained by mutations in the known ICF genes DNA methyltransferase 3B or zinc-finger and BTB domain containing 24. Here we report mutations in the cell division cycle associated 7 and the helicase, lymphoid-specific genes in 10 unexplained ICF cases. Our data highlight the genetic heterogeneity of ICF syndrome; however, they provide evidence that all genes act in common or converging pathways leading to the ICF phenotype. äMutations in CDCA7 and HELLS cause immunodeficiency?centromeric instab(epmc).pdf DeepDyve Pubget Overpricing