Publications
Found 1 results
Filters: Author is A.M. George [Clear All Filters]
“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