Contactin 4 as an autism susceptibility locus
暂无分享,去创建一个
J. Gastier-Foster | C. E. Alvarez | K. McBride | G. Herman | E. Butter | Natalie Bir | S. Bouyain | E. Varga | C. Cottrell | D. Thrush | D. Cunningham | R. Zernzach | J. Evans | Michael Trimarchi | John G Evans
[1] Emmanouil Collab. A map of human genome variation from population-scale sequencing , 2011, Nature.
[2] Sharyn A. Lincoln,et al. Clinical Genetic Testing for Patients With Autism Spectrum Disorders , 2010, Pediatrics.
[3] J. Raelson,et al. Hotspots of Large Rare Deletions in the Human Genome , 2010, PloS one.
[4] N. de Leeuw,et al. Terminal 3p deletions in two families—Correlation between molecular karyotype and phenotype , 2010, American journal of medical genetics. Part A.
[5] S. Bouyain,et al. The protein tyrosine phosphatases PTPRZ and PTPRG bind to distinct members of the contactin family of neural recognition molecules , 2010, Proceedings of the National Academy of Sciences.
[6] Kunie Sakurai,et al. Deficiency of neural recognition molecule NB-2 affects the development of glutamatergic auditory pathways from the ventral cochlear nucleus to the superior olivary complex in mouse. , 2009, Developmental biology.
[7] F. Rahman,et al. Microarray based analysis of 3p25‐p26 deletions (3p‐ syndrome) , 2009, American journal of medical genetics. Part A.
[8] Robert T. Schultz,et al. Autism genome-wide copy number variation reveals ubiquitin and neuronal genes , 2009, Nature.
[9] B. van der Zwaag,et al. Contact in the genetics of autism and schizophrenia , 2009, Trends in Neurosciences.
[10] K. McBride,et al. The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly , 2009, Genetics in Medicine.
[11] Kazutada Watanabe,et al. Contactins: emerging key roles in the development and function of the nervous system. , 2009, Cell adhesion & migration.
[12] M. Bahlo,et al. Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy. , 2008, American journal of human genetics.
[13] M. Strigini,et al. The immunoglobulin superfamily of neuronal cell adhesion molecules: Lessons from animal models and correlation with human disease , 2008, Biotechnology journal.
[14] M. State,et al. Molecular characterization of a patient with 3p deletion syndrome and a review of the literature , 2008, American journal of medical genetics. Part A.
[15] T. Panagiotaropoulos,et al. Impairment of learning and memory in TAG-1 deficient mice associated with shorter CNS internodes and disrupted juxtaparanodes , 2008, Molecular and Cellular Neuroscience.
[16] C. Baker,et al. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. , 2008, The New England journal of medicine.
[17] S. Leal,et al. Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data. , 2008, American journal of human genetics.
[18] Eric M. Morrow,et al. Identifying Autism Loci and Genes by Tracing Recent Shared Ancestry , 2008, Science.
[19] D. Geschwind,et al. Advances in autism genetics: on the threshold of a new neurobiology , 2008, Nature Reviews Genetics.
[20] Y. Yoshihara,et al. BIG-2 Mediates Olfactory Axon Convergence to Target Glomeruli , 2008, Neuron.
[21] S. Christian,et al. Disruption of contactin 4 in three subjects with autism spectrum disorder , 2008, Journal of Medical Genetics.
[22] Joshua M. Korn,et al. Association between microdeletion and microduplication at 16p11.2 and autism. , 2008, The New England journal of medicine.
[23] D. Pinto,et al. Structural variation of chromosomes in autism spectrum disorder. , 2008, American journal of human genetics.
[24] Tanya M. Teslovich,et al. A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism. , 2008, American journal of human genetics.
[25] Katarzyna Chawarska,et al. Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders. , 2008, American journal of human genetics.
[26] J. Sebat,et al. Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. , 2008, American journal of human genetics.
[27] D. Conrad,et al. Recurrent 16p11.2 microdeletions in autism. , 2007, Human molecular genetics.
[28] Richard P Lifton,et al. Disruption of Contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome. , 2004, American journal of human genetics.
[29] Christian R Marshall,et al. Contribution of SHANK3 mutations to autism spectrum disorder. , 2007, American journal of human genetics.
[30] Rodrigo Lopez,et al. Clustal W and Clustal X version 2.0 , 2007, Bioinform..
[31] H Furuya,et al. Heterozygous deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16 , 2007, Journal of Medical Genetics.
[32] E. Blennow,et al. Distal 3p deletion syndrome: Detailed molecular cytogenetic and clinical characterization of three small distal deletions and review , 2007, American journal of medical genetics. Part A.
[33] Kenny Q. Ye,et al. Strong Association of De Novo Copy Number Mutations with Autism , 2007, Science.
[34] Thomas Bourgeron,et al. Mapping autism risk loci using genetic linkage and chromosomal rearrangements , 2007, Nature Genetics.
[35] D. Pinto,et al. Contribution of SHANK 3 Mutations to Autism Spectrum Disorder , 2007 .
[36] K. Kok,et al. FISH and array‐CGH analysis of a complex chromosome 3 aberration suggests that loss of CNTN4 and CRBN contributes to mental retardation in 3pter deletions , 2006, American Journal of Medical Genetics. Part A.
[37] J. Kira,et al. The contactin 4 gene locus at 3p26 is a candidate gene of SCA16 , 2006, Neurology.
[38] Bassem A Bejjani,et al. Use of targeted array‐based CGH for the clinical diagnosis of chromosomal imbalance: Is less more? , 2005, American journal of medical genetics. Part A.
[39] L. Feuk,et al. Detection of large-scale variation in the human genome , 2004, Nature Genetics.
[40] A. Klin,et al. Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome. , 2004, American journal of human genetics.
[41] Colin L. Stewart,et al. Juxtaparanodal clustering of Shaker-like K+ channels in myelinated axons depends on Caspr2 and TAG-1 , 2003, The Journal of cell biology.
[42] M. Kano,et al. Impaired motor coordination in mice lacking neural recognition molecule NB-3 of the contactin/F3 subgroup. , 2003, Journal of neurobiology.
[43] P. Bork,et al. Human non-synonymous SNPs: server and survey. , 2002, Nucleic acids research.
[44] S. Henikoff,et al. Predicting deleterious amino acid substitutions. , 2001, Genome research.
[45] E. Mugnaini,et al. Ataxia and Abnormal Cerebellar Microorganization in Mice with Ablated Contactin Gene Expression , 1999, Neuron.
[46] J. Schlessinger,et al. The carbonic anhydrase domain of receptor tyrosine phosphatase β is a functional ligand for the axonal cell recognition molecule contactin , 1995, Cell.
[47] L. Shaffer,et al. Molecular characterization of de novo secondary trisomy 13. , 1994, American journal of human genetics.
[48] E. Myers,et al. Basic local alignment search tool. , 1990, Journal of molecular biology.