{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T22:16:41Z","timestamp":1761862601537},"reference-count":27,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2006,10,17]],"date-time":"2006-10-17T00:00:00Z","timestamp":1161043200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Genet Genomics"],"published-print":{"date-parts":[[2007,1]]},"DOI":"10.1007\/s00438-006-0173-1","type":"journal-article","created":{"date-parts":[[2006,10,17]],"date-time":"2006-10-17T08:48:45Z","timestamp":1161074925000},"page":"71-81","source":"Crossref","is-referenced-by-count":49,"title":["Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome"],"prefix":"10.1007","volume":"277","author":[{"given":"Erwin","family":"Petek","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Schwarzbraun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abdul","family":"Noor","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Megha","family":"Patel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazuhiko","family":"Nakabayashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sanaa","family":"Choufani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christian","family":"Windpassinger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mara","family":"Stamenkovic","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mary M.","family":"Robertson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Harald N.","family":"Aschauer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hugh M. D.","family":"Gurling","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter M.","family":"Kroisel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Klaus","family":"Wagner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephen W.","family":"Scherer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John B.","family":"Vincent","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2006,10,17]]},"reference":[{"key":"173_CR1","doi-asserted-by":"publisher","first-page":"3389","DOI":"10.1093\/nar\/25.17.3389","volume":"25","author":"SF Altschul","year":"1997","unstructured":"Altschul SF, Madden TL, Schaffer AA, Zhang J, Zhang Z, Miller W, Lipman DJ (1997) Gapped BLAST and PSI-BLAST: a new generation of protein database search programs. Nucleic Acids Res 25:3389\u20133402","journal-title":"Nucleic Acids Res"},{"key":"173_CR2","doi-asserted-by":"publisher","first-page":"1151","DOI":"10.1017\/S003329179900896X","volume":"29","author":"S Baron-Cohen","year":"1999","unstructured":"Baron-Cohen S, Scahill VL, Izaguirre J, Hornsey H, Robertson MM (1999) The prevalence of Gilles de la Tourette syndrome in children and adolescents with autism: a large scale study. Psychol Med 29:1151\u20131159","journal-title":"Psychol Med"},{"key":"173_CR3","first-page":"999","volume":"59","author":"L Boghosian-Sell","year":"1996","unstructured":"Boghosian-Sell L, Comings DE, Overhauser J (1996) Tourette syndrome in a pedigree with a 7; 18 translocation: identification of a YAC spanning the translocation breakpoint at 18q22.3. Am J Hum Genet 59:999\u20131005","journal-title":"Am J Hum Genet"},{"key":"173_CR4","doi-asserted-by":"publisher","first-page":"198","DOI":"10.1038\/sj.ejhg.5201315","volume":"13","author":"E Bonora","year":"2005","unstructured":"Bonora E, Lamb JA, Barnby G, Sykes N, Moberly T, Beyer KS, Klauck SM, Poustka F, Bacchelli E, Blasi F, Maestrini E, Battaglia A, Haracopos D, Pedersen L, Isager T, Eriksen G, Viskum B, Sorensen EU, Brondum-Nielsen K, Cotterill R, Engeland H, Jonge M, Kemner C, Steggehuis K, Scherpenisse M, Rutter M, Bolton PF, Parr JR, Poustka A, Bailey AJ, Monaco AP, International molecular genetic study of austism consortium (2005) Mutation screening and association analysis of six candidate genes for autism on chromosome 7q. Eur J Hum Genet 13:198\u2013207","journal-title":"Eur J Hum Genet"},{"key":"173_CR5","doi-asserted-by":"publisher","first-page":"2926","DOI":"10.1091\/mbc.E04-12-1086","volume":"16","author":"L Burri","year":"2005","unstructured":"Burri L, Strahm Y, Hawkins CJ, Gentle IE, Puryer MA, Verhagen A, Callus B, Vaux D, Lithgow T (2005) Mature DIABLO\/Smac is produced by the IMP protease complex on the mitochondrial inner membrane. Mol Biol Cell 16:2926\u20132933","journal-title":"Mol Biol Cell"},{"key":"173_CR6","doi-asserted-by":"publisher","first-page":"37750","DOI":"10.1074\/jbc.274.53.37750","volume":"274","author":"X Chen","year":"1999","unstructured":"Chen X, VanValkenburgh C, Fang H, Green N (1999) Signal peptides having standard and nonstandard cleavage sites can be processed by Imp1p of the mitochondrial inner membrane protease. J Biol Chem 274:37750\u201337754","journal-title":"J Biol Chem"},{"key":"173_CR7","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1002\/ajmg.a.20631","volume":"127","author":"A Diaz-Anzaldua","year":"2004","unstructured":"Diaz-Anzaldua A, Joober R, Riviere JB, Dion Y, Lesperance P, Chouinard S, Richer F, Rouleau GA (2004) Association between 7q31 markers and Tourette syndrome. Am J Med Genet A 127:17\u201320","journal-title":"Am J Med Genet A"},{"key":"173_CR8","doi-asserted-by":"publisher","first-page":"943","DOI":"10.1038\/35103559","volume":"2","author":"SE Folstein","year":"2001","unstructured":"Folstein SE, Rosen-Sheidley B (2001) Genetics of autism: complex aetiology for a heterogeneous disorder. Nat Rev Genet 2:943\u2013955","journal-title":"Nat Rev Genet"},{"key":"173_CR9","volume-title":"Chromosome abnormalities and genetic counseling,","author":"RJM Gardner","year":"1996","unstructured":"Gardner RJM, Sutherland GR (1996) Chromosome abnormalities and genetic counseling, 2nd edn. Oxford University Press, Oxford","edition":"2nd"},{"key":"173_CR10","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1002\/ajmg.b.10033","volume":"117","author":"HB Hutcheson","year":"2003","unstructured":"Hutcheson HB, Bradford Y, Folstein SE, Gardiner MB, Santangelo SL, Sutcliffe JS, Haines JL (2003) Defining the autism minimum candidate gene region on chromosome 7. Am J Med Genet B 117:90\u201396","journal-title":"Am J Med Genet B"},{"key":"173_CR11","doi-asserted-by":"publisher","first-page":"12","DOI":"10.1186\/1471-2350-5-12","volume":"5","author":"HB Hutcheson","year":"2004","unstructured":"Hutcheson HB, Olson LM, Bradford Y, Folstein SE, Santangelo SL, Sutcliffe JS, Haines JL (2004) Examination of NRCAM, LRRN3, KIAA0716, and LAMB1 as autism candidate genes. BMC Med Genet 5:12","journal-title":"BMC Med Genet"},{"key":"173_CR12","doi-asserted-by":"publisher","first-page":"2243","DOI":"10.1093\/hmg\/11.19.2243","volume":"11","author":"H Jacquet","year":"2002","unstructured":"Jacquet H, Raux G, Thibaut F, Hecketsweiler B, Houy E, Demilly C, Haouzir S, Allio G, Fouldrin G, Drouin V, Bou J, Petit M, Campion D, Frebourg T (2002) PRODH mutations and hyperprolinemia in a subset of schizophrenic patients. Hum Mol Genet 11:2243\u20132249","journal-title":"Hum Mol Genet"},{"key":"173_CR13","doi-asserted-by":"publisher","first-page":"259","DOI":"10.1002\/1096-8628(20010701)101:3<259::AID-AJMG1374>3.0.CO;2-#","volume":"101","author":"PM Kroisel","year":"2001","unstructured":"Kroisel PM, Petek E, Emberger W, Windpassinger C, Wladika W, Wagner K (2001) Candidate region for Gilles de la Tourette syndrome at 7q31. Am J Med Genet 101:259\u2013261","journal-title":"Am J Med Genet"},{"key":"173_CR14","doi-asserted-by":"publisher","first-page":"201","DOI":"10.1089\/gte.1997.1.201","volume":"1","author":"A Kuklin","year":"1997\u20131998","unstructured":"Kuklin A, Munson K, Gjerde D, Haefele R, Taylor P (1997\u20131998) Detection of single-nucleotide polymorphisms with the WAVE DNA fragment analysis system. Genet Test 1:201\u2013206","journal-title":"Genet Test"},{"key":"173_CR15","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1073\/pnas.011404098","volume":"98","author":"C Li","year":"2001a","unstructured":"Li C, Wong WH (2001a) Model-based analysis of oligonucleotide arrays: expression index computation and outlier detection. Proc Natl Acad Sci USA 98:31\u201336","journal-title":"Proc Natl Acad Sci USA"},{"key":"173_CR16","doi-asserted-by":"crossref","unstructured":"Li C, Wong WH. (2001b) Model-based analysis of oligonucleotide arrays: model validation, design issues and standard error application. Genome Biol 2:Research0032 (Epub)","DOI":"10.1186\/gb-2001-2-8-research0032"},{"key":"173_CR17","volume-title":"The analysis of gene expression data: methods and software","author":"C Li","year":"2003","unstructured":"Li C, Wong WH (2003). DNA-Chip Analyzer (dChip). In: G Parmigiani ES Garrett R Irizarry SL Zeger (eds) The analysis of gene expression data: methods and software. Springer, Berlin Heidelberg New York"},{"key":"173_CR18","first-page":"150","volume":"2","author":"WH Li","year":"1985","unstructured":"Li WH, Wu CI, Luo CC (1985) A new method for estimating synonymous and nonsynonymous rates of nucleotide substitution considering the relative likelihood of nucleotide and codon changes. Mol Biol Evol 2:150\u2013174","journal-title":"Mol Biol Evol"},{"key":"173_CR19","doi-asserted-by":"publisher","first-page":"1997","DOI":"10.1126\/science.8266095","volume":"262","author":"J Nunnari","year":"1993","unstructured":"Nunnari J, Fox TD, Walter P (1993) A mitochondrial protease with two catalytic subunits of non overlapping specificities. Science 262:1997\u20132004","journal-title":"Science"},{"key":"173_CR20","doi-asserted-by":"publisher","first-page":"15015","DOI":"10.1038\/sj.mp.4000850","volume":"6","author":"AM Persico","year":"2001","unstructured":"Persico AM, D\u2019Agruma L, Maiorano N, Totaro A, Militerni R, Bravaccio C, Wassink TH, Schneider C, Melmed R, Trillo S, Montecchi F, Palermo M, Pascucci T, Puglisi-Allegra S, Reichelt KL, Conciatori M, Marino R, Quattrocchi CC, Baldi A, Zelante L, Gasparini P, Keller F, Collaborative Linkage Study of Autism (2001) Reelin gene alleles and haplotypes as a factor predisposing to autistic disorder. Mol Psychiatry 6:15015\u201315019","journal-title":"Mol Psychiatry"},{"key":"173_CR21","doi-asserted-by":"publisher","first-page":"848","DOI":"10.1086\/319523","volume":"68","author":"E Petek","year":"2001","unstructured":"Petek E, Windpassinger C, Vincent JB, Cheung J, Boright AP, Scherer SW, Kroisel PM, Wagner K (2001) Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31 associated with Tourette syndrome. Am J Hum Genet 68:848\u2013858","journal-title":"Am J Hum Genet"},{"key":"173_CR22","doi-asserted-by":"publisher","first-page":"356","DOI":"10.1016\/S0168-9525(03)00137-9","volume":"19","author":"E Richly","year":"2003","unstructured":"Richly E, Chinnery PF, Leister D (2003) Evolutionary diversification of mitochondrial proteomes: implications for human disease. Trends Genet 19:356\u2013362","journal-title":"Trends Genet"},{"key":"173_CR23","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1146\/annurev.med.50.1.111","volume":"50","author":"DK Simon","year":"1999","unstructured":"Simon DK, Johns DR (1999) Mitochondrial disorders: clinical and genetic features. Annu Rev Med 50:111\u2013127","journal-title":"Annu Rev Med"},{"key":"173_CR24","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1002\/ajmg.b.20088","volume":"125","author":"JB Vincent","year":"2004","unstructured":"Vincent JB, Thevarkunnel S, Kolosovari D, Paterson AD, Roberts W, Scherer SW (2004) Association and transmission analysis of the FMR1 IVS10\u00a0+\u00a014C-T variant in autism. Am J Med Genet B 125:54\u201356","journal-title":"Am J Med Genet B"},{"key":"173_CR25","doi-asserted-by":"publisher","first-page":"886","DOI":"10.1086\/378778","volume":"73","author":"AL Yonan","year":"2003","unstructured":"Yonan AL, Alarcon M, Cheng R, Magnusson PK, Spence SJ, Palmer AA, Grunn A, Juo SH, Terwilliger JD, Liu J, Cantor RM, Geschwind DH, Gilliam TC (2003) A genomewide screen of 345 families for autism-susceptibility loci. Am J Hum Genet 73:886\u2013897","journal-title":"Am J Hum Genet"},{"key":"173_CR26","doi-asserted-by":"publisher","first-page":"3060","DOI":"10.1158\/0008-5472.CAN-03-3308","volume":"64","author":"X Zhao","year":"2004","unstructured":"Zhao X, Li C, Paez JG, Chin K, Janne PA, Chen TH, Girard L, Minna J, Christiani D, Leo C, Gray JW, Sellers WR, Meyerson M (2004) An integrated view of copy number and allelic alterations in the cancer genome using single nucleotide polymorphism arrays. Cancer Res 64:3060\u20133071","journal-title":"Cancer Res"},{"key":"173_CR27","doi-asserted-by":"publisher","first-page":"5561","DOI":"10.1158\/0008-5472.CAN-04-4603","volume":"65","author":"X Zhao","year":"2005","unstructured":"Zhao X, Weir BA, LaFramboise T, Lin M, Beroukhim R, Garraway L, Beheshti J, Lee JC, Naoki K, Richards WG, Sugarbaker D, Chen F, Rubin MA, Janne PA, Girard L, Minna J, Christiani D, Li C, Sellers WR, Meyerson M (2005) Homozygous deletions and chromosome amplifications in human lung carcinomas revealed by single nucleotide polymorphism array analysis. Cancer Res 65:5561\u20135570","journal-title":"Cancer Res"}],"container-title":["Molecular Genetics and Genomics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00438-006-0173-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00438-006-0173-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00438-006-0173-1","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00438-006-0173-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,7]],"date-time":"2024-02-07T16:42:28Z","timestamp":1707324148000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00438-006-0173-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,10,17]]},"references-count":27,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2007,1]]}},"alternative-id":["173"],"URL":"https:\/\/doi.org\/10.1007\/s00438-006-0173-1","relation":{},"ISSN":["1617-4615","1617-4623"],"issn-type":[{"value":"1617-4615","type":"print"},{"value":"1617-4623","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,10,17]]}}}