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10.1016/j.pediatrneurol.2016.03.011 http://scihub22266oqcxt.onion/10.1016/j.pediatrneurol.2016.03.011 C5125779!5125779 !27343026     free     free     free Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 263.2 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\27343026 .jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       Pediatr+Neurol 2016 ; 60 (ä): 83-7 Nephropedia Template TP {{tp|p=27343026 |t=2016. PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies |pdf=|usr=}}{{27343026 }} gab.com Text PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies JO: Pediatr Neurol http://www.kidney.de/pget.php?&tw=1&pmid=27343026 #FOAvip BACKGROUND: Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy (PEHO) syndrome is a distinct neurodevelopmental disorder. Patients without optic nerve atrophy and brain imaging abnormalities but fulfilling other PEHO criteria are often described as a PEHO-like syndrome. The molecular bases of both clinically defined conditions remain unknown in spite of the widespread application of genome analyses in both clinic and research. METHODS: We enrolled two patients with a prior diagnosis of PEHO and two individuals with PEHO-like syndrome. All four individuals subsequently underwent whole-exome sequencing and comprehensive genomic analysis. RESULTS: We identified disease-causing mutations in known genes associated with neurodevelopmental disorders including GNAO1 and CDKL5 in two of four individuals. One patient with PEHO syndrome and a de novoGNAO1 mutation was found to have an additional de novo mutation in HESX1 that is associated with optic atrophy. CONCLUSIONS: We hypothesize that PEHO and PEHO-like syndrome may represent a severe end of the spectrum of the early-onset encephalopathies and, in some instances, its complex phenotype may result from an aggregated effect of mutations at two loci. Twit Text FOAVip PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies ????Pediatr Neurol http://www.kidney.de/pget.php?&tw=1&pmid=27343026 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=27343026 #FOAvip English Wikipedia <ref>{{Cite pmid|27343026 }}</ref> PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies #MMPMID27343026 Gawlinski P ; Posmyk R ; Gambin T ; Sielicka D ; Chorazy M ; Nowakowska B ; Jhangiani SN ; Muzny DM ; Bekiesinska-Figatowska M ; Bal J ; Boerwinkle E ; Gibbs RA ; Lupski JR ; Wiszniewski W Pediatr Neurol 2016[Jul]; 60 (ä): 83-7 PMID27343026 show ga BACKGROUND: Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy (PEHO) syndrome is a distinct neurodevelopmental disorder. Patients without optic nerve atrophy and brain imaging abnormalities but fulfilling other PEHO criteria are often described as a PEHO-like syndrome. The molecular bases of both clinically defined conditions remain unknown in spite of the widespread application of genome analyses in both clinic and research. METHODS: We enrolled two patients with a prior diagnosis of PEHO and two individuals with PEHO-like syndrome. All four individuals subsequently underwent whole-exome sequencing and comprehensive genomic analysis. RESULTS: We identified disease-causing mutations in known genes associated with neurodevelopmental disorders including GNAO1 and CDKL5 in two of four individuals. One patient with PEHO syndrome and a de novoGNAO1 mutation was found to have an additional de novo mutation in HESX1 that is associated with optic atrophy. CONCLUSIONS: We hypothesize that PEHO and PEHO-like syndrome may represent a severe end of the spectrum of the early-onset encephalopathies and, in some instances, its complex phenotype may result from an aggregated effect of mutations at two loci. |Brain Edema/diagnostic imaging/*genetics/pathology [MESH] |Child [MESH] |Child, Preschool [MESH] |Female [MESH] |GTP-Binding Protein alpha Subunits, Gi-Go/genetics [MESH] |Humans [MESH] |Infant [MESH] |Male [MESH] |Mutation [MESH] |Neurodegenerative Diseases/diagnostic imaging/*genetics/pathology [MESH] |Optic Atrophy/diagnostic imaging/*genetics/pathology [MESH] |Phenotype [MESH] |Protein Serine-Threonine Kinases/genetics [MESH]PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of (epmc).pdf DeepDyve Pubget Overpricing