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10.1002/ajmg.a.35396 http://scihub22266oqcxt.onion/10.1002/ajmg.a.35396 22678932RareInheritedA2BP1DeletionInAProbandWithAutismAndDevelopmentalHemiparesis.!3707293!22678932; 2; 1     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=22678932; 2; 1&cmd=llinks): Failed to open stream: HTTP request failed! HTTP/1.1 400 Bad Request in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 215 Deprecated: Implicit conversion from float 247.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 247.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 247.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 247.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 247.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 247.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 247.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 281.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 281.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 281.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 281.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 281.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 281.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 281.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 314.79999999999995 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 314.79999999999995 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 314.79999999999995 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 314.79999999999995 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 314.79999999999995 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 314.79999999999995 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 314.79999999999995 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 348.4 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 348.4 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 348.4 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 348.4 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 348.4 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 348.4 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 348.4 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 348.4 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Am+J+Med+Genet+A;+Biochem+Biophys+Res+Commun;+Biochem+Med 2012 ; 158A; 66; 13 (7; 4; 2): 1654-61; 1173-9; 117-26 Nephropedia Template TP {{tp|p=22678932; 2; 1|t=2012. Rare inherited A2BP1 deletion in a proband with autism and developmental hemiparesis ; Delineation of the intimate details of the backbone conformation of pyridine nucleotide coenzymes in aqueous solution ; Formate assay in body fluids: application in methanol poisoning |pdf=|usr=}}{{22678932; 2; 1}} gab.com Text Rare inherited A2BP1 deletion in a proband with autism and developmental hemiparesis ; Delineation of the intimate details of the backbone conformation of pyridine nucleotide coenzymes in aqueous solution ; Formate assay in body fluids: application in methanol poisoning JO: Am J Med Genet A; Biochem Biophys Res Commun; Biochem Med http://www.kidney.de/pget.php?&tw=1&pmid=22678932; 2; 1 #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 ; Delineation of the intimate details of the backbone conformation of pyridine nucleotide coenzymes in aqueous solution ; Formate assay in body fluids: application in methanol poisoning ????Am J Med Genet A; Biochem Biophys Res Commun; Biochem Med http://www.kidney.de/pget.php?&tw=1&pmid=22678932; 2; 1 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=22678932; 2; 1 #FOAvip English Wikipedia <ref>{{Cite pmid|22678932; 2; 1}}</ref> Rare inherited A2BP1 deletion in a proband with autism and developmental hemiparesis ; Delineation of the intimate details of the backbone conformation of pyridine nucleotide coenzymes in aqueous solution ; Formate assay in body fluids: application in methanol poisoning #MMPMID22678932; 2; 1 Davis LK; Maltman N; Mosconi MW; Macmillan C; Schmitt L; Moore K; Francis SM; Jacob S; Sweeney JA; Cook EH; Bose KS; Sarma RH; Makar AB; McMartin KE; Palese M; Tephly TR Am J Med Genet A; Biochem Biophys Res Commun; Biochem Med 2012[Jul]; 158A; 66; 13 (7; 4; 2): 1654-61; 1173-9; 117-26 PMID22678932; 2; 1show 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] |*NAD/analogs & derivatives[MESH] |*NADP[MESH] |Aldehyde Oxidoreductases/metabolism[MESH] |Animals[MESH] |Autistic Disorder/complications/*genetics[MESH] |Body Fluids/*analysis[MESH] |Carbon Dioxide/blood[MESH] |Child[MESH] |DNA Copy Number Variations[MESH] |Formates/blood/*poisoning[MESH] |Fourier Analysis[MESH] |Haplorhini[MESH] |Humans[MESH] |Hydrogen-Ion Concentration[MESH] |Kinetics[MESH] |Magnetic Resonance Spectroscopy[MESH] |Male[MESH] |Methanol/blood[MESH] |Methods[MESH] |Models, Molecular[MESH] |Molecular Conformation[MESH] |Paresis/complications/*genetics[MESH] |Pedigree[MESH] |Phenotype[MESH] |Pseudomonas/enzymology[MESH] |RNA Splicing Factors[MESH] |RNA-Binding Proteins/*genetics[MESH] |Structure-Activity Relationship[MESH]Rare inherited A2BP1 deletion in a proband with autism and development(epmc).pdf DeepDyve Pubget Overpricing