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Page 1
Clinical comparison of overlapping deletions of 19p13.3.
Risheg H, Pasion R, Sacharow S, Proud V, Immken L, Schwartz S, Tepperberg JH, Papenhausen P, Tan TY, Andrieux J, Plessis G, Amor DJ, Keitges EA. Risheg H, et al. Among authors: papenhausen p. Am J Med Genet A. 2013 May;161A(5):1110-6. doi: 10.1002/ajmg.a.35923. Am J Med Genet A. 2013. PMID: 23610052
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: papenhausen p. 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.
Interstitial deletion of proximal 8q including part of the centromere from unbalanced segregation of a paternal deletion/marker karyotype with neocentromere formation at 8p22.
Burnside RD, Ibrahim J, Flora C, Schwartz S, Tepperberg JH, Papenhausen PR, Warburton PE. Burnside RD, et al. Among authors: papenhausen pr. Cytogenet Genome Res. 2011;132(4):227-32. doi: 10.1159/000322815. Epub 2011 Jan 6. Cytogenet Genome Res. 2011. PMID: 21212645 Free PMC article.
Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay.
Burnside RD, Pasion R, Mikhail FM, Carroll AJ, Robin NH, Youngs EL, Gadi IK, Keitges E, Jaswaney VL, Papenhausen PR, Potluri VR, Risheg H, Rush B, Smith JL, Schwartz S, Tepperberg JH, Butler MG. Burnside RD, et al. Hum Genet. 2011 Oct;130(4):517-28. doi: 10.1007/s00439-011-0970-4. Epub 2011 Feb 27. Hum Genet. 2011. PMID: 21359847 Free PMC article.
Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype.
Burnside RD, Pappas JG, Sacharow S, Applegate C, Hamosh A, Gadi IK, Jaswaney V, Keitges E, Phillips KK, Potluri VR, Risheg H, Smith JL, Tepperberg JH, Schwartz S, Papenhausen P. Burnside RD, et al. Among authors: papenhausen p. Am J Med Genet A. 2013 Apr;161A(4):822-8. doi: 10.1002/ajmg.a.35699. Epub 2013 Mar 12. Am J Med Genet A. 2013. PMID: 23495222
86 results