Distinct phenotypes distinguish the molecular classes of Angelman syndrome
Lossie, A C, Whitney, M M, Amidon, D, Dong, H J, Chen, P, Theriaque, D, Hutson, A, Nicholls, R D, Zori, R T, Williams, C A, Driscoll, D J
Published in Journal of medical genetics (01.12.2001)
Published in Journal of medical genetics (01.12.2001)
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PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome
Marsh, Debbie J., Kum, Jennifer B., Lunetta, Kathryn L., Bennett, Michael J., Gorlin, Robert J., Ahmed, S. Faisal, Bodurtha, Joann, Crowe, Carol, Curtis, Mary A., Dasouki, Majed, Dunn, Teresa, Feit, Howard, Geraghty, Michael T., Graham, John M., Hodgson, Shirley V., Hunter, Alasdair, Korf, Bruce R., Manchester, David, Miesfeldt, Susan, Murday, Victoria A., Nathanson, Katherine L., Parisi, Melissa, Pober, Barbara, Romano, Corrado, Tolmie, John L., Trembath, Richard, Winter, Robin M., Zackai, Elaine H., Zori, Roberto T., Weng, Liang-Ping, Dahia, Patricia L. M., Eng, Charis
Published in Human molecular genetics (01.08.1999)
Published in Human molecular genetics (01.08.1999)
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Genetic insights into familial cancers – update and recent discoveries
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Book Review
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Fine Mapping of Chromosome 17 Translocation Breakpoints ⩾900 Kb Upstream of SOX9 in Acampomelic Campomelic Dysplasia and a Mild, Familial Skeletal Dysplasia
Hill-Harfe, Katherine L., Kaplan, Lee, Stalker, Heather J., Zori, Roberto T., Pop, Ramona, Scherer, Gerd, Wallace, Margaret R.
Published in American journal of human genetics (01.04.2005)
Published in American journal of human genetics (01.04.2005)
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Unexpected death and critical illness in Prader-Willi syndrome: Report of ten individuals
Stevenson, David A., Anaya, Theresa M., Clayton-Smith, Jill, Hall, Bryan D., Van Allen, Margot I., Zori, Roberto T., Zackai, Elaine H., Frank, Gary, Clericuzio, Carol L.
Published in American journal of medical genetics. Part A (15.01.2004)
Published in American journal of medical genetics. Part A (15.01.2004)
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Blood lymphocyte chimerism associated with IVF and monochorionic dizygous twinning: Case report
Williams, C.A., Wallace, M.R., Drury, K.C., Kipersztok, S., Edwards, R.K., Williams, R.S., Haller, M.J., Schatz, D.A., Silverstein, J.H., Gray, B.A., Zori, R.T.
Published in Human reproduction (Oxford) (01.12.2004)
Published in Human reproduction (Oxford) (01.12.2004)
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A molecular diagnosis of hyperparathyroidism—Jaw tumor syndrome in an adolescent with recurrent kidney stones
Howell, Viive M., Zori, Roberto T., Stalker, Heather J., Williams, Charles, Jesse, Nathan, Nelson, Anne E., Robinson, Bruce G., Marsh, Deborah J.
Published in The Journal of pediatrics (01.10.2004)
Published in The Journal of pediatrics (01.10.2004)
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A family with a grand-maternally derived interstitial duplication of proximal 15q
Boyar, FZ, Whitney, MM, Lossie, AC, Gray, BA, Keller, KL, Stalker, HJ, Zori, RT, Geffken, G, Mutch, J, Edge, PJ, Voeller, KS, Williams, CA, Driscoll, DJ
Published in Clinical genetics (01.12.2001)
Published in Clinical genetics (01.12.2001)
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Locus control region elements HS2 and HS3 in combination with chromatin boundaries confer high‐level expression of a human β‐globin transgene in a centromeric region
Kang, Sung‐Hae Lee, Levings, Padraic P., Andersen, Felicie, Laipis, Philip J., Berns, Kenneth I., Zori, Robert T., Bungert, Jörg
Published in Genes to cells : devoted to molecular & cellular mechanisms (01.11.2004)
Published in Genes to cells : devoted to molecular & cellular mechanisms (01.11.2004)
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A DNA methylation imprint, determined by the sex of the parent, distinguishes the angelman and Prader-Willi syndromes
Driscoll, Daniel J., Waters, Michael F., Williams, Charles A., Zori, Roberto T., Glenn, Christopher C., Avidano, Karen M., Nicholls, Robert D.
Published in Genomics (San Diego, Calif.) (01.08.1992)
Published in Genomics (San Diego, Calif.) (01.08.1992)
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Linkage Analysis Narrows the Critical Region for Oculodentodigital Dysplasia to Chromosome 6q22–q23
Boyadjiev, Simeon A, Jabs, Ethylin Wang, LaBuda, Michele, Jamal, Joseph E, Torbergsen, Torberg, Ptáček, Louis J, Rogers, R.Curtis, Nyberg-Hansen, Rolf, Opjordsmoen, Stein, Zeller, Cynthia B, Stine, O.Colin, Stalker, Heather J, Zori, Roberto T, Shapiro, Robert E
Published in Genomics (San Diego, Calif.) (15.05.1999)
Published in Genomics (San Diego, Calif.) (15.05.1999)
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Angelman syndrome: clinical profile
Zori, R T, Hendrickson, J, Woolven, S, Whidden, E M, Gray, B, Williams, C A
Published in Journal of child neurology (01.07.1992)
Published in Journal of child neurology (01.07.1992)
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Lack of X inactivation associated with maternal X isodisomy : Evidence for a counting mechanism prior to X inactivation during human embryogenesis
MIGEON, B. R, JEPPESEN, P, TORCHIA, B. S, SIDONG FU, DUNN, M. A, AXELMAN, J, SCHMECKPEPER, B. J, FANTES, J, ZORI, R. T, DRISCOLL, D. J
Published in American journal of human genetics (1996)
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Published in American journal of human genetics (1996)
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Fluorescence in situ hybridization assessment of the telomeric regions of jumping translocations in a case of aggressive B-cell non-Hodgkin lymphoma
Gray, Brian A., Bent-Williams, Angela, Wadsworth, Julie, Maiese, Russell L., Bhatia, Andres, Zori, Robert T.
Published in Cancer genetics and cytogenetics (01.10.1997)
Published in Cancer genetics and cytogenetics (01.10.1997)
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