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Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.
Herman SB, Guo T, McGinn DM, Blonska A, Shanske AL, Bassett AS, Chow EW, 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; International Chromosome 22q11.2 Consortium. Herman SB, et al. Among authors: kates w. Am J Med Genet A. 2012 Nov;158A(11):2781-7. doi: 10.1002/ajmg.a.35512. Epub 2012 Oct 3. Am J Med Genet A. 2012. PMID: 23034814 Free PMC article.
Velo-cardio-facial syndrome.
Shprintzen RJ, Higgins AM, Antshel K, Fremont W, Roizen N, Kates W. Shprintzen RJ, et al. Among authors: kates w. Curr Opin Pediatr. 2005 Dec;17(6):725-30. doi: 10.1097/01.mop.0000184465.73833.0b. Curr Opin Pediatr. 2005. PMID: 16282778 Review.
A gender-moderated effect of a functional COMT polymorphism on prefrontal brain morphology and function in velo-cardio-facial syndrome (22q11.2 deletion syndrome).
Kates WR, Antshel KM, Abdulsabur N, Colgan D, Funke B, Fremont W, Higgins AM, Kucherlapati R, Shprintzen RJ. Kates WR, et al. Am J Med Genet B Neuropsychiatr Genet. 2006 Apr 5;141B(3):274-80. doi: 10.1002/ajmg.b.30284. Am J Med Genet B Neuropsychiatr Genet. 2006. PMID: 16511839 Free PMC article.
Temperament in velocardiofacial syndrome.
Antshel KM, Stallone K, Abdulsabur N, Shprintzen R, Roizen N, Higgins AM, Kates WR. Antshel KM, et al. Among authors: kates wr. J Intellect Disabil Res. 2007 Mar;51(Pt 3):218-27. doi: 10.1111/j.1365-2788.2006.00859.x. J Intellect Disabil Res. 2007. PMID: 17300417
133 results