How to Cite this Article: Herman SB, Guo T, McDonald McGinn DM, Blonska A, Shanske AL, Bassett AS, Chow EWC, Bowser M, Sheridan M, Beemer F, Devriendt K, Swillen A, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Carpenter C, Zheng X, Johnson J, Chung J, Higgins AM, Philip N, Simon T, Coleman K, Heine-Suner D, Rosell J, Kates W, Devoto M, Zackai E, Wang T, Shprintzen R, Emanuel BS, Morrow BE, and the International Chromosome 22q11.2 Consortium. 2012. Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients. Am J Med Genet Part A 158A: 2781–2787.
Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients†
Article first published online: 3 OCT 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Special Issue: SPECIAL ISSUE: GROWTH CHARTS IN GENETIC SYNDROMES
Volume 158A, Issue 11, pages 2781–2787, November 2012
How to Cite
Herman, S. B., Guo, T., McGinn, D. M. M., Blonska, A., Shanske, A. L., Bassett, A. S., Chow, E. W.C., Bowser, M., Sheridan, M., Beemer, F., Devriendt, K., Swillen, A., Breckpot, J., Digilio, M. C., Marino, B., Dallapiccola, B., Carpenter, C., Zheng, X., Johnson, J., Chung, J., Higgins, A. M., Philip, N., Simon, T., Coleman, K., Heine-Suner, D., Rosell, J., Kates, W., Devoto, M., Zackai, E., Wang, T., Shprintzen, R., Emanuel, B. S., Morrow, B. E. and and the International Chromosome 22q11.2 Consortium (2012), Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients. Am. J. Med. Genet., 158A: 2781–2787. doi: 10.1002/ajmg.a.35512
- Issue published online: 17 OCT 2012
- Article first published online: 3 OCT 2012
- Manuscript Accepted: 16 MAY 2012
- Manuscript Received: 27 DEC 2011
- NIH. Grant Numbers: HL084410, P01HD070454
- The Charles E.H. Upham Chair (BSE)
Additional Supporting Information may be found in the online version of this article.
|ajmg_35512_sm_SupplFig.tif||1521K||Fig. 1: Linkage disequilibrium (LD) plot of common SNPs from TBX1 resequencing data. An LD matrix was generated from DNA sequence data, using the X-chromosome model in Haploview 4.2. Seventeen common SNPs with a MAF>0.05 were used to generate the plot. The SNPs highlighted in green are those selected to genotype in the whole cohort of 1,022 patients. Standard (D&'/LOD) models were used to create the LD color scheme. The value in each pairwise box is the D' value. We found there were three LD blocks in the TBX1 locus.|
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