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10.1002/humu.22828 http://scihub22266oqcxt.onion/10.1002/humu.22828 C4616260!4616260!26123727     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 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 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Hum+Mutat 2015 ; 36 (11): 1021-8 Nephropedia Template TP {{tp|p=26123727|t=2015. WDR73 mutations cause infantile neurodegeneration and variable glomerular kidney disease |pdf=|usr=}}{{26123727}} gab.com Text WDR73 mutations cause infantile neurodegeneration and variable glomerular kidney disease JO: Hum Mutat http://www.kidney.de/pget.php?&tw=1&pmid=26123727 #FOAvip Infantile-onset cerebellar atrophy (CA) is a clinically and genetically heterogeneous trait. Galloway-Mowat syndrome (GMS) is a rare autosomal recessive disease, characterized by microcephaly with brain anomalies including CA in some cases, intellectual disability, and early-infantile-onset nephrotic syndrome. Very recently, WDR73 deficiency was identified as the cause of GMS in five individuals. To evaluate the role of WDR73 mutations as a cause of GMS and other forms of syndromic CA, we performed Sanger or exome sequencing in 51 unrelated patients with CA and variable brain anomalies and in 40 unrelated patients with a diagnosis of GMS. We identified 10 patients from three CA and from two GMS families with WDR73 mutations including the original family described with CA, mental retardation, optic atrophy and skin abnormalities (CAMOS). There were five novel mutations, of which two were truncating and three were missense mutations affecting highly conserved residues. Individuals carrying homozygous WDR73 mutations mainly presented with a pattern of neurological and neuroimaging findings as well as intellectual disability, while kidney involvement was variable. We document postnatal onset of CA, a retinopathy, basal ganglia degeneration, and short stature as novel features of WDR73-related disease, and define WDR73-related disease as a new entity of infantile neurodegeneration. Twit Text FOAVip WDR73 mutations cause infantile neurodegeneration and variable glomerular kidney disease ????Hum Mutat http://www.kidney.de/pget.php?&tw=1&pmid=26123727 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=26123727 #FOAvip English Wikipedia <ref>{{Cite pmid|26123727}}</ref> WDR73 mutations cause infantile neurodegeneration and variable glomerular kidney disease #MMPMID26123727 Vodopiutz J; Seidl R; Prayer D; Khan MI; Mayr JA; Streubel B; Steiß JO; Hahn A; Csaicsich D; Castro C; Assoum M; Müller T; Wieczorek D; Mancini GMS; Sadowski CE; Levy N; Mégarbané A; Godbole K; Schanze D; Hildebrandt F; Delague V; Janecke AR; Zenker M Hum Mutat 2015[Nov]; 36 (11): 1021-8 PMID26123727show ga Infantile-onset cerebellar atrophy (CA) is a clinically and genetically heterogeneous trait. Galloway-Mowat syndrome (GMS) is a rare autosomal recessive disease, characterized by microcephaly with brain anomalies including CA in some cases, intellectual disability, and early-infantile-onset nephrotic syndrome. Very recently, WDR73 deficiency was identified as the cause of GMS in five individuals. To evaluate the role of WDR73 mutations as a cause of GMS and other forms of syndromic CA, we performed Sanger or exome sequencing in 51 unrelated patients with CA and variable brain anomalies and in 40 unrelated patients with a diagnosis of GMS. We identified 10 patients from three CA and from two GMS families with WDR73 mutations including the original family described with CA, mental retardation, optic atrophy and skin abnormalities (CAMOS). There were five novel mutations, of which two were truncating and three were missense mutations affecting highly conserved residues. Individuals carrying homozygous WDR73 mutations mainly presented with a pattern of neurological and neuroimaging findings as well as intellectual disability, while kidney involvement was variable. We document postnatal onset of CA, a retinopathy, basal ganglia degeneration, and short stature as novel features of WDR73-related disease, and define WDR73-related disease as a new entity of infantile neurodegeneration. äWDR73 mutations cause infantile neurodegeneration and variable glomeru(epmc).pdf DeepDyve Pubget Overpricing