Nomenclature Evolution: Changes in the ISCN from the 2005 to the 2009 Edition
Brothman, A.R., Persons, D.L., Shaffer, L.G.
Published in Cytogenetic and genome research (01.01.2009)
Published in Cytogenetic and genome research (01.01.2009)
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Journal Article
Epigenetic detection of human chromosome 14 uniparental disomy
Murphy, S.K., Wylie, A.A., Coveler, K.J., Cotter, P.D., Papenhausen, P.R., Sutton, V.R., Shaffer, L.G., Jirtle, R.L.
Published in Human mutation (01.07.2003)
Published in Human mutation (01.07.2003)
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Journal Article
Monosomy 1p36 uncovers a role for OX40 in survival of activated CD4+ T cells
Suhoski, M.M, Perez, E.E, Heltzer, M.L, Laney, A, Shaffer, L.G, Saitta, S, Nachman, S, Spinner, N.B, June, C.H, Orange, J.S
Published in Clinical immunology (Orlando, Fla.) (01.08.2008)
Published in Clinical immunology (Orlando, Fla.) (01.08.2008)
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Journal Article
Genomic organization and chromosomal localization of the human Coxsackievirus B-adenovirus receptor gene
Bowles, K.R., Gibson, J., Wu, J., Shaffer, L.G., Towbin, J.A., Bowles, N.E.
Published in Human genetics (01.10.1999)
Published in Human genetics (01.10.1999)
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Journal Article
Partial trisomy of chromosome 10(q22–q24) due to maternal insertional translocation (15;10)
Han, J.Y., Kim, K.H., Jun, H.J., Je, G.H., Glotzbach, C.D., Shaffer, L.G.
Published in American journal of medical genetics. Part A (01.12.2004)
Published in American journal of medical genetics. Part A (01.12.2004)
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Journal Article
Microarray detection of multiple recurring submicroscopic chromosomal aberrations in pediatric T-cell acute lymphoblastic leukemia
Yu, L, Slovak, M L, Mannoor, K, Chen, C, Hunger, S P, Carroll, A J, Schultz, R A, Shaffer, L G, Ballif, B C, Ning, Y
Published in Leukemia (01.06.2011)
Published in Leukemia (01.06.2011)
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Journal Article
Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly
Rosenfeld, J.A., Kim, K.H., Angle, B., Troxell, R., Gorski, J.L., Westemeyer, M., Frydman, M., Senturias, Y., Earl, D., Torchia, B., Schultz, R.A., Ellison, J.W., Tsuchiya, K., Zimmerman, S., Smolarek, T.A., Ballif, B.C., Shaffer, L.G.
Published in Molecular syndromology (01.01.2013)
Published in Molecular syndromology (01.01.2013)
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Journal Article
Investigation of TBR1 Hemizygosity: Four Individuals with 2q24 Microdeletions
Traylor, R.N., Dobyns, W.B., Rosenfeld, J.A., Wheeler, P., Spence, J.E., Bandholz, A.M., Bawle, E.V., Carmany, E.P., Powell, C.M., Hudson, B., Schultz, R.A., Shaffer, L.G., Ballif, B.C.
Published in Molecular syndromology (01.09.2012)
Published in Molecular syndromology (01.09.2012)
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Journal Article
Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1
Theisen, A., Rosenfeld, J.A., Shane, K., McBride, K.L., Atkin, J.F., Gaba, C., Hoo, J., Kurczynski, T.W., Schnur, R.E., Coffey, L.B., Zackai, E.H., Schimmenti, L., Friedman, N., Zabukovec, M., Ball, S., Pagon, R., Lucas, A., Brasington, C.K., Spence, J.E., Sparks, S., Banks, V., Smith, W., Friedberg, T., Wyatt, P.R., Aust, M., Tervo, R., Crowley, A., Skidmore, D., Lamb, A.N., Ravnan, B., Sahoo, T., Schultz, R., Torchia, B.S., Sgro, M., Chitayat, D., Shaffer, L.G.
Published in Molecular syndromology (01.05.2011)
Published in Molecular syndromology (01.05.2011)
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Journal Article
A Common Breakpoint on 11q23 in Carriers of the Constitutional t(11;22) Translocation
Edelmann, L., Spiteri, E., McCain, N., Goldberg, R., Pandita, R.K., Duong, S., Fox, J., Blumenthal, D., Lalani, S.R., Shaffer, L.G., Morrow, B.E.
Published in American journal of human genetics (01.12.1999)
Published in American journal of human genetics (01.12.1999)
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Journal Article
Rearrangements of chromosome 18 illustrate the utility of array-based comparative genomic hybridization
Kashork, C.D., Theisen, A., Bejjani, B.A., Shaffer, L.G.
Published in Cytogenetic and genome research (01.08.2006)
Published in Cytogenetic and genome research (01.08.2006)
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Journal Article
Estimates of aneuploidy using multicolor fluorescence in situ hybridization on human sperm
Bischoff, F Z, Nguyen, D D, Burt, K J, Shaffer, L G
Published in Cytogenetics and cell genetics (01.01.1994)
Published in Cytogenetics and cell genetics (01.01.1994)
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Journal Article
Circadian rhythm abnormalities of melatonin and haploinsufficiency of COPS3 in Srnith-Magenis Syndrome
Potocki, L., Glaze, D., Park, S.S., Kasork, C.D., Shaffer, L.G., Tan, D.X., Reiter, R.J., Lupski, J.R.
Published in Genetics in medicine (01.01.2000)
Published in Genetics in medicine (01.01.2000)
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Journal Article
A Chromosome 13-Specific Human Satellite I DNA Subfamily with Minor Presence on Chromosome 21: Further Studies on Robertsonian Translocations
Kalitsis, Paul, Earle, Elizabeth, Vissel, Bryce, Shaffer, Lisa G., Choo, K.H.Andy
Published in Genomics (San Diego, Calif.) (01.04.1993)
Published in Genomics (San Diego, Calif.) (01.04.1993)
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