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High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.
Hum Genet. 2012 Jan;131(1):145-56. doi: 10.1007/s00439-011-1073-y. Epub 2011 Jul 29.
Hum Genet. 2012.
PMID: 21800092
Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1.
Theisen A, Rosenfeld JA, Shane K, McBride KL, Atkin JF, Gaba C, Hoo J, Kurczynski TW, Schnur RE, Coffey LB, Zackai EH, Schimmenti L, Friedman N, Zabukovec M, Ball S, Pagon R, Lucas A, Brasington CK, Spence JE, Sparks S, Banks V, Smith W, Friedberg T, Wyatt PR, Aust M, Tervo R, Crowley A, Skidmore D, Lamb AN, Ravnan B, Sahoo T, Schultz R, Torchia BS, Sgro M, Chitayat D, Shaffer LG.
Theisen A, et al. Among authors: coffey lb.
Mol Syndromol. 2010;1(5):262-271. doi: 10.1159/000328405. Epub 2011 May 18.
Mol Syndromol. 2010.
PMID: 22140379
Free PMC article.
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