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10.1002/mgg3.348 http://scihub22266oqcxt.onion/10.1002/mgg3.348 C6014453!6014453!29536651     free     free     free Deprecated: Implicit conversion from float 235.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Mol+Genet+Genomic+Med 2018 ; 6 (3): 322-31 Nephropedia Template TP {{tp|p=29536651|t=2018. Neurobehavioral features in individuals with Kabuki syndrome |pdf=|usr=}}{{29536651}} gab.com Text Neurobehavioral features in individuals with Kabuki syndrome JO: Mol Genet Genomic Med http://www.kidney.de/pget.php?&tw=1&pmid=29536651 #FOAvip Background: Kabuki syndrome (KS) is a disorder characterized by multiple congenital anomalies affecting development and function of multiple systems. Over the years, researchers have attempted to characterize the neurobehavioral phenotype of KS in cohorts of patients enrolled on the basis of clinical assessment. The availability of molecular testing now allows for recruitment of patients with confirmed KS due to KMT2D and KDM6A. Methods: The aims of the present study were to investigate the neuropsychological and behavioral profiles of individuals with molecularly confirmed diagnosis of KS, and determine the extent of heterogeneity occurring in these profiles between individuals with clinical diagnosis of KS with and without mutations in KMT2D. We also described performance of our cohort in any neuropsychological domain investigated. Results: We documented a marked variation in the neuropsychological profile of subjects with clinical diagnosis of KS, even though a relatively homogeneous impairment in linguistic domains and motor skills was observed. No significant difference occurred between mutation?positive and mutation?negative groups. Phonological disorders and oromotor dysfunctions were also found, and adaptive functioning was characterized by low performance in daily living and in motor domain. Conclusion: The present study allowed identification of a distinctive neurobehavioral profile in a cohort of individuals affected by KS with or without molecularly confirmed diagnosis. These findings are expected to help clinicians define more accurately targeted protocols for individualized intervention. Twit Text FOAVip Neurobehavioral features in individuals with Kabuki syndrome ????Mol Genet Genomic Med http://www.kidney.de/pget.php?&tw=1&pmid=29536651 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=29536651 #FOAvip English Wikipedia <ref>{{Cite pmid|29536651}}</ref> Neurobehavioral features in individuals with Kabuki syndrome #MMPMID29536651 Caciolo C; Alfieri P; Piccini G; Digilio MC; Lepri F; Tartaglia M; Menghini D; Vicari S Mol Genet Genomic Med 2018[May]; 6 (3): 322-31 PMID29536651show ga Background: Kabuki syndrome (KS) is a disorder characterized by multiple congenital anomalies affecting development and function of multiple systems. Over the years, researchers have attempted to characterize the neurobehavioral phenotype of KS in cohorts of patients enrolled on the basis of clinical assessment. The availability of molecular testing now allows for recruitment of patients with confirmed KS due to KMT2D and KDM6A. Methods: The aims of the present study were to investigate the neuropsychological and behavioral profiles of individuals with molecularly confirmed diagnosis of KS, and determine the extent of heterogeneity occurring in these profiles between individuals with clinical diagnosis of KS with and without mutations in KMT2D. We also described performance of our cohort in any neuropsychological domain investigated. Results: We documented a marked variation in the neuropsychological profile of subjects with clinical diagnosis of KS, even though a relatively homogeneous impairment in linguistic domains and motor skills was observed. No significant difference occurred between mutation?positive and mutation?negative groups. Phonological disorders and oromotor dysfunctions were also found, and adaptive functioning was characterized by low performance in daily living and in motor domain. Conclusion: The present study allowed identification of a distinctive neurobehavioral profile in a cohort of individuals affected by KS with or without molecularly confirmed diagnosis. These findings are expected to help clinicians define more accurately targeted protocols for individualized intervention. äNeurobehavioral features in individuals with Kabuki syndrome (epmc).pdf DeepDyve Pubget Overpricing