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10.1002/ajmg.a.35396 http://scihub22266oqcxt.onion/10.1002/ajmg.a.35396 22678932/?report=reader!3707293!22678932     free     free     free Deprecated: Implicit conversion from float 225.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 225.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 225.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Am+J+Med+Genet+A 2012 ; 158A (7): 1654-61 Nephropedia Template TP {{tp|p=22678932|t=2012. Rare inherited A2BP1 deletion in a proband with autism and developmental hemiparesis |pdf=|usr=}}{{22678932}} gab.com Text Rare inherited A2BP1 deletion in a proband with autism and developmental hemiparesis JO: Am J Med Genet A http://www.kidney.de/pget.php?&tw=1&pmid=22678932 #FOAvip Ataxin 2 binding protein 1 (A2BP1 aka FOX1, RBFOX1) is an RNA binding protein responsible for regulation of pre-mRNA splicing events in a number of critical developmental genes expressed in muscle, heart and neuronal cells [Shibata et al. (2000); Mamm Genome 12:595-601; Jin et al. (2003); EMBO J 22:905-912; Underwood et al. (2005); Mol Cell Biol 25:10005-10016]. Rare copy number abnormalities of A2BP1 have been previously associated with cognitive impairment, attention deficit disorder and autism [Martin et al. (2007); Am J Med Gen Part B 144B:869-876; Elia et al. (2010); Mol Psychiatry 15:637-646.]. Using a 1M Illumina SNP microarray, we identified a 1.3 kb deletion in A2BP1, which was subsequently validated by quantitative PCR. Here we present an in depth case study of an individual with autism and mild developmental hemiparesis in whom the deletion was detected. This study provides further support for the possible role of rare copy number variants in A2BP1 in the development of autism and associated motor asymmetries. Twit Text FOAVip Rare inherited A2BP1 deletion in a proband with autism and developmental hemiparesis ????Am J Med Genet A http://www.kidney.de/pget.php?&tw=1&pmid=22678932 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=22678932 #FOAvip English Wikipedia <ref>{{Cite pmid|22678932}}</ref> Rare inherited A2BP1 deletion in a proband with autism and developmental hemiparesis #MMPMID22678932 Davis LK; Maltman N; Mosconi MW; Macmillan C; Schmitt L; Moore K; Francis SM; Jacob S; Sweeney JA; Cook EH Am J Med Genet A 2012[Jul]; 158A (7): 1654-61 PMID22678932show ga Ataxin 2 binding protein 1 (A2BP1 aka FOX1, RBFOX1) is an RNA binding protein responsible for regulation of pre-mRNA splicing events in a number of critical developmental genes expressed in muscle, heart and neuronal cells [Shibata et al. (2000); Mamm Genome 12:595-601; Jin et al. (2003); EMBO J 22:905-912; Underwood et al. (2005); Mol Cell Biol 25:10005-10016]. Rare copy number abnormalities of A2BP1 have been previously associated with cognitive impairment, attention deficit disorder and autism [Martin et al. (2007); Am J Med Gen Part B 144B:869-876; Elia et al. (2010); Mol Psychiatry 15:637-646.]. Using a 1M Illumina SNP microarray, we identified a 1.3 kb deletion in A2BP1, which was subsequently validated by quantitative PCR. Here we present an in depth case study of an individual with autism and mild developmental hemiparesis in whom the deletion was detected. This study provides further support for the possible role of rare copy number variants in A2BP1 in the development of autism and associated motor asymmetries. |*Gene Deletion[MESH] |Autistic Disorder/complications/*genetics[MESH] |Child[MESH] |DNA Copy Number Variations[MESH] |Humans[MESH] |Male[MESH] |Paresis/complications/*genetics[MESH] |Pedigree[MESH] |Phenotype[MESH] |RNA Splicing Factors[MESH]Rare inherited A2BP1 deletion in a proband with autism and development(epmc).pdf DeepDyve Pubget Overpricing