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Page 1
Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity.
Jalali A, Aldinger KA, Chary A, McLone DG, Bowman RM, Le LC, Jardine P, Newbury-Ecob R, Mallick A, Jafari N, Russell EJ, Curran J, Nguyen P, Ouahchi K, Lee C, Dobyns WB, Millen KJ, Pina-Neto JM, Kessler JA, Bassuk AG. Jalali A, et al. Among authors: bassuk ag. Hum Genet. 2008 Apr;123(3):237-45. doi: 10.1007/s00439-008-0467-y. Epub 2008 Jan 19. Hum Genet. 2008. PMID: 18204864 Free PMC article.
Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles.
Darbro BW, Mahajan VB, Gakhar L, Skeie JM, Campbell E, Wu S, Bing X, Millen KJ, Dobyns WB, Kessler JA, Jalali A, Cremer J, Segre A, Manak JR, Aldinger KA, Suzuki S, Natsume N, Ono M, Hai HD, Viet le T, Loddo S, Valente EM, Bernardini L, Ghonge N, Ferguson PJ, Bassuk AG. Darbro BW, et al. Among authors: bassuk ag. Hum Mutat. 2013 Aug;34(8):1075-9. doi: 10.1002/humu.22351. Epub 2013 May 28. Hum Mutat. 2013. PMID: 23674478 Free PMC article.
Catenin delta-1 (CTNND1) phosphorylation controls the mesenchymal to epithelial transition in astrocytic tumors.
Yang J, Bassuk AG, Merl-Pham J, Hsu CW, Colgan DF, Li X, Au KS, Zhang L, Smemo S, Justus S, Nagahama Y, Grossbach AJ, Howard MA 3rd, Kawasaki H, Feldstein NA, Dobyns WB, Northrup H, Hauck SM, Ueffing M, Mahajan VB, Tsang SH. Yang J, et al. Among authors: bassuk ag. Hum Mol Genet. 2016 Oct 1;25(19):4201-4210. doi: 10.1093/hmg/ddw253. Epub 2016 Aug 11. Hum Mol Genet. 2016. PMID: 27516388 Free PMC article.
Neuroimaging findings in children with rare or novel de novo chromosomal anomalies.
Epstein LG, Jalali A, Chary AN, Khan S, Ross J, Coppinger J, Carlson K, Charrow J, Burton B, Zimmerman D, Curran J, Kim F, Nguyen P, Burrowes D, Angle B, Stack C, Shaffer L, Kessler JA, Bassuk AG. Epstein LG, et al. Among authors: bassuk ag. Birth Defects Res A Clin Mol Teratol. 2008 Apr;82(4):200-10. doi: 10.1002/bdra.20443. Birth Defects Res A Clin Mol Teratol. 2008. PMID: 18302267
NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.
Lu W, Quintero-Rivera F, Fan Y, Alkuraya FS, Donovan DJ, Xi Q, Turbe-Doan A, Li QG, Campbell CG, Shanske AL, Sherr EH, Ahmad A, Peters R, Rilliet B, Parvex P, Bassuk AG, Harris DJ, Ferguson H, Kelly C, Walsh CA, Gronostajski RM, Devriendt K, Higgins A, Ligon AH, Quade BJ, Morton CC, Gusella JF, Maas RL. Lu W, et al. Among authors: bassuk ag. PLoS Genet. 2007 May 25;3(5):e80. doi: 10.1371/journal.pgen.0030080. PLoS Genet. 2007. PMID: 17530927 Free PMC article.
Whole genomewide linkage screen for neural tube defects reveals regions of interest on chromosomes 7 and 10.
Rampersaud E, Bassuk AG, Enterline DS, George TM, Siegel DG, Melvin EC, Aben J, Allen J, Aylsworth A, Brei T, Bodurtha J, Buran C, Floyd LE, Hammock P, Iskandar B, Ito J, Kessler JA, Lasarsky N, Mack P, Mackey J, McLone D, Meeropol E, Mehltretter L, Mitchell LE, Oakes WJ, Nye JS, Powell C, Sawin K, Stevenson R, Walker M, West SG, Worley G, Gilbert JR, Speer MC. Rampersaud E, et al. Among authors: bassuk ag. J Med Genet. 2005 Dec;42(12):940-6. doi: 10.1136/jmg.2005.031658. Epub 2005 Apr 14. J Med Genet. 2005. PMID: 15831595 Free PMC article.
SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects.
Deak KL, Boyles AL, Etchevers HC, Melvin EC, Siegel DG, Graham FL, Slifer SH, Enterline DS, George TM, Vekemans M, McClay D, Bassuk AG, Kessler JA, Linney E, Gilbert JR, Speer MC. Deak KL, et al. Among authors: bassuk ag. Hum Genet. 2005 Jul;117(2-3):133-42. doi: 10.1007/s00439-005-1299-7. Epub 2005 May 10. Hum Genet. 2005. PMID: 15883837 Free PMC article.
PRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disorders.
Paemka L, Mahajan VB, Skeie JM, Sowers LP, Ehaideb SN, Gonzalez-Alegre P, Sasaoka T, Tao H, Miyagi A, Ueno N, Takao K, Miyakawa T, Wu S, Darbro BW, Ferguson PJ, Pieper AA, Britt JK, Wemmie JA, Rudd DS, Wassink T, El-Shanti H, Mefford HC, Carvill GL, Manak JR, Bassuk AG. Paemka L, et al. Among authors: bassuk ag. PLoS One. 2013 Dec 3;8(12):e80737. doi: 10.1371/journal.pone.0080737. eCollection 2013. PLoS One. 2013. PMID: 24312498 Free PMC article.
166 results