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2012
A. M. George, Taylor, J., and Love, D. R., Microdeletions in 16p11.2 and 13q31.3 associated with developmental delay and generalized overgrowth, vol. 11, pp. 3133-3137, 2012.
Bachmann-Gagescu R, Mefford HC, Cowan C, Glew GM, et al. (2010). Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity. Genet. Med. 12: 641-647. http://dx.doi.org/10.1097/GIM.0b013e3181ef4286 PMid:20808231   Ballif BC, Hornor SA, Jenkins E, Madan-Khetarpal S, et al. (2007). Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2. Nat. Genet. 39: 1071-1073. http://dx.doi.org/10.1038/ng2107 PMid:17704777   Battaglia A, Novelli A, Bernardini L, Igliozzi R, et al. (2009). Further characterization of the new microdeletion syndrome of 16p11.2-p12.2. Am. J. Med. Genet. A. 149A: 1200-1204. http://dx.doi.org/10.1002/ajmg.a.32847 PMid:19449418   Bijlsma EK, Gijsbers AC, Schuurs-Hoeijmakers JH, van HA, et al. (2009). Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals. Eur. J. Med. Genet. 52: 77-87. http://dx.doi.org/10.1016/j.ejmg.2009.03.006 PMid:19306953   Bochukova EG, Huang N, Keogh J, Henning E, et al. (2010). Large, rare chromosomal deletions associated with severe early-onset obesity. Nature 463: 666-670. http://dx.doi.org/10.1038/nature08689 PMid:19966786 PMCid:3108883   Firth HV, Richards SM, Bevan AP, Clayton S, et al. (2009). DECIPHER: Database of chromosomal imbalance and phenotype in humans using ensembl resources. Am. J. Hum. Genet. 84: 524-533. http://dx.doi.org/10.1016/j.ajhg.2009.03.010 PMid:19344873 PMCid:2667985   Fombonne E (2002). Epidemiological trends in rates of autism. Mol. Psychiatry 7 (Suppl 2): S4-S6. http://dx.doi.org/10.1038/sj.mp.4001162 PMid:12142931   Font-Llitjos M, Jimenez-Vidal M, Bisceglia L, Di Perna M, et al. (2005). New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype. J. Med. Genet. 42: 58-68. http://dx.doi.org/10.1136/jmg.2004.022244 PMid:15635077 PMCid:1735913   Girirajan S, Rosenfeld JA, Cooper GM, Antonacci F, et al. (2010). A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat. Genet. 42: 203-209. http://dx.doi.org/10.1038/ng.534 PMid:20154674 PMCid:2847896   Hempel M, Rivera BN, Wagenstaller J, Lederer G, et al. (2009). Microdeletion syndrome 16p11.2-p12.2: clinical and molecular characterization. Am. J. Med. Genet. A. 149A: 2106-2112. http://dx.doi.org/10.1002/ajmg.a.33042 PMid:19676056   Kumar RA, Karamohamed S, Sudi J, Conrad DF, et al. (2008). Recurrent 16p11.2 microdeletions in autism. Hum. Mol. Genet. 17: 628-638. http://dx.doi.org/10.1093/hmg/ddm376 PMid:18156158   Marshall CR, Noor A, Vincent JB, Lionel AC, et al. (2008). Structural variation of chromosomes in autism spectrum disorder. Am. J. Hum. Genet. 82: 477-488. http://dx.doi.org/10.1016/j.ajhg.2007.12.009 PMid:18252227 PMCid:2426913   Mefford HC, Muhle H, Ostertag P, von Spiczak S, et al. (2010). Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. PLoS Genet. 6: e1000962. http://dx.doi.org/10.1371/journal.pgen.1000962 PMid:20502679 PMCid:2873910   Miller DT, Adam MP, Aradhya S, Biesecker LG, et al. (2010). Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am. J. Hum. Genet. 86: 749-764. http://dx.doi.org/10.1016/j.ajhg.2010.04.006 PMid:20466091 PMCid:2869000   Quélin C, Bendavid C, Dubourg C, de la Rochebrochard C, et al. (2009). Twelve new patients with 13q deletion syndrome: genotype-phenotype analyses in progress. Eur. J. Med. Genet. 52: 41-46. http://dx.doi.org/10.1016/j.ejmg.2008.10.002 PMid:19022413   Sharp AJ, Mefford HC, Li K, Baker C, et al. (2008). A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat. Genet. 40: 322-328. http://dx.doi.org/10.1038/ng.93 PMid:18278044 PMCid:2365467   Shi W and Filmus J (2009). A patient with the Simpson-Golabi-Behmel syndrome displays a loss-of-function point mutation in GPC3 that inhibits the attachment of this proteoglycan to the cell surface. Am. J. Med. Genet. A. 149A: 552-554. http://dx.doi.org/10.1002/ajmg.a.32669 PMid:19215053   Weiss LA, Shen Y, Korn JM, Arking DE, et al. (2008). Association between microdeletion and microduplication at 16p11.2 and autism. N. Engl. J. Med. 358: 667-675. http://dx.doi.org/10.1056/NEJMoa075974 PMid:18184952   Woodberry KA, Giuliano AJ and Seidman LJ (2008). Premorbid IQ in schizophrenia: a meta-analytic review. Am. J. Psychiatry 165: 579-587. http://dx.doi.org/10.1176/appi.ajp.2008.07081242 PMid:18413704