Long tandem repeats as a form of genomic copy number variation: structure and length polymorphism of a chromosome 5p repeat in control and schizophrenia populations
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Bassett, 1998, 22q11 Deletion Syndrome in Adults with Schizophrenia, Am J Med Genet, 81, 328, 10.1002/(SICI)1096-8628(19980710)81:4<328::AID-AJMG10>3.0.CO;2-N
Benson, 1999, Tandem repeats finder: a program to analyze DNA sequences, Nuc Acids Res, 27, 573, 10.1093/nar/27.2.573
Burge, 1997, Prediction of complete gene structures in human genomic DNA, J Molec Biol, 268, 78, 10.1006/jmbi.1997.0951
Clapp, 2007, Evolutionary conservation of a coding function for D4Z4, the tandem DNA repeat mutated in facioscapulohumeral muscular dystrophy, Am J Hum Genet, 81, 264, 10.1086/519311
Cowell, 2004, Identification and characterisation of constitutional chromosome abnormalities using arrays of bacterial artificial chromosomes, Brit J Cancer, 90, 860, 10.1038/sj.bjc.6601588
DeLisi, 2002, A genome-wide scan for linkage to chromosomal regions in 382 sibling pairs with schizophrenia or schizoaffective disorder, Am J Psychiat, 159, 803, 10.1176/appi.ajp.159.5.803
Farrer, 2004, Comparison of kindreds with parkinsonism and alpha-synuclein genomic multiplications, Ann Neurol, 55, 174, 10.1002/ana.10846
Gondo, 1998, Human megasatellite DNA RS447: copy-number polymorphisms and interspecies conservation, Genomics, 54, 39, 10.1006/geno.1998.5545
Iafrate, 2004, Detection of large-scale variation in the human genome, Nat Genet, 36, 949, 10.1038/ng1416
Kirov, 2008, Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia, Hum Molec Genet, 17, 458, 10.1093/hmg/ddm323
Kogi, 1997, A novel tandem repeat sequence located on human chromosome 4p: isolation and characterization, Genomics, 42, 278, 10.1006/geno.1997.4746
Kruglyak, 1996, Parametric and nonparametric linkage analysis: a unified multipoint approach, Amer J Hum Genet, 58, 1347
Lalioti, 1997, Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy, Nature, 386, 847, 10.1038/386847a0
Lemmers, 2002, Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere, Nat Genet, 32, 235, 10.1038/ng999
Lemmers, 2007, Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy, Amer J Hum Genet, 81, 884, 10.1086/521986
Liquori, 2001, Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9, Science, 293, 864, 10.1126/science.1062125
Matsuura, 2000, Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10, Nat Genet, 26, 191, 10.1038/79911
Moon, 2006, Identification of DNA copy-number aberrations by array-comparative genomic hybridization in patients with schizophrenia, Biochem Biophys Res Comm, 344, 531, 10.1016/j.bbrc.2006.03.156
Murphy, 1999, High rates of schizophrenia in adults with velo-cardio-facial syndrome, Arch Gen Psychiat, 56, 940, 10.1001/archpsyc.56.10.940
Nyholt, 2002, GENEHUNTER: your ‘one-stop shop’ for statistical genetic analysis?, Hum Hered, 53, 2, 10.1159/000048598
Orr, 2007, Trinucleotide repeat disorders, Ann Rev Neurosci, 30, 575, 10.1146/annurev.neuro.29.051605.113042
Pato, 2004, Genome-wide scan in Portuguese Island families implicates multiple loci in bipolar disorder: fine mapping adds support on chromosomes 6 and 11, Am J Med Genet: Part B, 127B, 30, 10.1002/ajmg.b.30001
Pulver, 1994, Psychotic illness in patients diagnosed with velo-cardio-facial syndrome and their relatives, J Nerv Ment Dis, 182, 476, 10.1097/00005053-199408000-00010
Robinson, 2005, Mapping and functional characterization of the TAF11 interaction with TFIIA, Mol Cell Biol, 25, 945, 10.1128/MCB.25.3.945-957.2005
Saitoh, 2000, The RS447 human megasatellite tandem repetitive sequence encodes a novel deubiquitinating enzyme with a functional promoter, Genomics, 67, 291, 10.1006/geno.2000.6261
Scherer, 2007, Challenges and standards in integrating surveys of structural variation, Nat Genet, 39, S7, 10.1038/ng2093
Sebat, 2007, Strong association of de novo copy number mutations with autism, Science, 316, 445, 10.1126/science.1138659
Sharp, 2006, Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome, Nat Genet, 38, 1038, 10.1038/ng1862
Singleton, 2003, Alpha-synuclein locus triplication causes Parkinson's disease, Science, 302, 841, 10.1126/science.1090278
Stefansson, 2008, Large recurrent microdeletions associated with schizophrenia, Nature, 455, 232, 10.1038/nature07229
Sutrala, 2007, Gene copy number variation in schizophrenia, Schizophr Res, 96, 93, 10.1016/j.schres.2007.07.029
Sutrala, 2008, Gene copy number variation in schizophrenia, Am J Med Genet, Part B, 147B, 606, 10.1002/ajmg.b.30645
The International Schizophrenia, 2008, Rare chromosomal deletions and duplications increase risk of schizophrenia., Nature, 455, 237, 10.1038/nature07239
Van der Maarel, 2007, Facioscapulohumeral muscular dystrophy, Biochim Biophys Acta, 1772, 186, 10.1016/j.bbadis.2006.05.009
Walsh, 2008, Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia, Science, 320, 539, 10.1126/science.1155174
Weiss, 2008, Association between microdeletion and microduplication at 16p11.2 and autism, New Eng J Med, 358, 667, 10.1056/NEJMoa075974