Microcephaly-Thin Corpus Callosum Syndrome Maps to 8q23.2-q24.12
Tài liệu tham khảo
Sarnat, 2006, Neuroembryology, genetic programming, and malformations of the nervous system, 320
Gleeson, 2006, Perinatal acquired and congenital neurologic disorders, 400
Baxter, 2009, Acquired microcephaly: Causes, patterns, motor and IQ effects, and associated growth changes, Pediatrics, 124, 590, 10.1542/peds.2008-2784
Ashwal, 2009, Neurology, 73, 887, 10.1212/WNL.0b013e3181b783f7
Gleeson, 2006, Perinatal acquired and congenital neurologic disorders, 385
Paul, 2007, Agenesis of the corpus callosum: Genetic, developmental and functional aspects of connectivity, Nat Rev Neurosci, 8, 287, 10.1038/nrn2107
Wozniak, 2009, Microstructural corpus callosum anomalies in children with prenatal alcohol exposure: An extension of previous diffusion tensor imaging findings, Alcohol Clin Exp Res, 33, 1825, 10.1111/j.1530-0277.2009.01021.x
Bedeschi, 2006, Agenesis of corpus callosum: Clinical and genetic study in 63 young patients, Pediatr Neurol, 34, 186, 10.1016/j.pediatrneurol.2005.08.008
Basel-Vanagaite, 2006, Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis, Ann Neurol, 60, 214, 10.1002/ana.20902
Seelow, 2009, Homozygosity Mapper: An interactive approach to homozygosity mapping, Nucleic Acids Res, 37, W593, 10.1093/nar/gkp369
Fishelson, 2002, Exact genetic linkage computations for general pedigrees, Bioinformatics, 18, S189, 10.1093/bioinformatics/18.suppl_1.S189
Hamada, 2002, Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1), Hum Mol Genet, 11, 833, 10.1093/hmg/11.7.833
Bohn, 2007, A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14, Nat Med, 13, 38, 10.1038/nm1528
Gudbjartsson, 2000, Allegro, a new computer program for multipoint linkage analysis, Nat Genet, 25, 12, 10.1038/75514
Thiele, 2005, HaploPainter: A tool for drawing pedigrees with complex haplotypes, Bioinformatics, 21, 1730, 10.1093/bioinformatics/bth488
Rüschendorf, 2005, ALOHOMORA: A tool for linkage analysis using 10K SNP array data, Bioinformatics, 21, 2123, 10.1093/bioinformatics/bti264
Lee, 2010, Constitutional pericentric inversion 9 and hematological disorders: A Korean tertiary institution’s experience over eight years, Ann Clin Lab Sci, 40, 273
Basel-Vanagaite, 2010, Clinical and brain imaging heterogeneity of severe microcephaly, Pediatr Neurol, 43, 7, 10.1016/j.pediatrneurol.2010.02.015
Mochida, 2009, A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly, Am J Hum Genet, 85, 897, 10.1016/j.ajhg.2009.10.027
Olmez, 2006, Further clinical and genetic characterization of SPG11: Hereditary spastic paraplegia with thin corpus callosum, Neuropediatrics, 37, 59, 10.1055/s-2006-923982
Stevanin, 2007, Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum, Nat Genet, 39, 366, 10.1038/ng1980
Hanein, 2008, Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome, Am J Hum Genet, 82, 992, 10.1016/j.ajhg.2008.03.004
Kantaputra, 2008, Tricho-rhino-phalangeal syndrome with supernumerary teeth, J Dent Res, 87, 1027, 10.1177/154405910808701102
Pei, 2010, Novel mutations of EXT1 and EXT2 genes among families and sporadic cases with multiple exostoses, Genet Test Mol Biomarkers, 14, 865, 10.1089/gtmb.2010.0040
Najmabadi, 2011, Deep sequencing reveals 50 novel genes for recessive cognitive disorders, Nature, 478, 57, 10.1038/nature10423
Carretero, 2010, Cohesin ties up the genome, Curr Opin Cell Biol, 22, 781, 10.1016/j.ceb.2010.07.004
Bugiani, 2010, Leukoencephalopathy with vanishing white matter: A review, J Neuropathol Exp Neurol, 69, 987, 10.1097/NEN.0b013e3181f2eafa