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Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotype.
Bendavid C, Haddad BR, Griffin A, Huizing M, Dubourg C, Gicquel I, Cavalli LR, Pasquier L, Shanske AL, Long R, Ouspenskaia M, Odent S, Lacbawan F, David V, Muenke M. Bendavid C, et al. Among authors: shanske al. J Med Genet. 2006 Jun;43(6):496-500. doi: 10.1136/jmg.2005.037176. Epub 2005 Sep 30. J Med Genet. 2006. PMID: 16199538 Free PMC article.
Germline mosacism in Shprintzen-Goldberg syndrome.
Shanske AL, Goodrich JT, Ala-Kokko L, Baker S, Frederick B, Levy B. Shanske AL, et al. Am J Med Genet A. 2012 Jul;158A(7):1574-8. doi: 10.1002/ajmg.a.35388. Epub 2012 May 25. Am J Med Genet A. 2012. PMID: 22639450
Interparietal bone (Os Incae) in craniosynostosis.
Wu JK, Goodrich JT, Amadi CC, Miller T, Mulliken JB, Shanske AL. Wu JK, et al. Am J Med Genet A. 2011 Feb;155A(2):287-94. doi: 10.1002/ajmg.a.33800. Epub 2010 Dec 22. Am J Med Genet A. 2011. PMID: 21271643 Review.
The proximal chromosome 14q microdeletion syndrome: delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature.
Torgyekes E, Shanske AL, Anyane-Yeboa K, Nahum O, Pirzadeh S, Blumfield E, Jobanputra V, Warburton D, Levy B. Torgyekes E, et al. Among authors: shanske al. Am J Med Genet A. 2011 Aug;155A(8):1884-96. doi: 10.1002/ajmg.a.34090. Epub 2011 Jul 8. Am J Med Genet A. 2011. PMID: 21744488 Review.
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