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Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy?
Levy B, Tegay D, Papenhausen P, Tepperberg J, Nahum O, Tsuchida T, Pletcher BA, Ala-Kokko L, Baker S, Frederick B, Hirschhorn K, Warburton P, Shanske A. Levy B, et al. Among authors: shanske a. Genet Med. 2012 Sep;14(9):811-8. doi: 10.1038/gim.2012.54. Epub 2012 May 31. Genet Med. 2012. PMID: 22653535 Free 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
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.
Mosaicism in Marshall syndrome.
Ala-Kokko L, Shanske AL. Ala-Kokko L, et al. Am J Med Genet A. 2009 Jun;149A(6):1327-30. doi: 10.1002/ajmg.a.32873. Am J Med Genet A. 2009. PMID: 19449424 No abstract available.
91 results