Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms
Wilson, H L, Wong, A C C, Shaw, S R, Tse, W-Y, Stapleton, G A, Phelan, M C, Hu, S, Marshall, J, McDermid, H E
Published in Journal of medical genetics (01.08.2003)
Published in Journal of medical genetics (01.08.2003)
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Position Effect of Human Telomeric Repeats on Replication Timing
Ofir, R, Wong, A C, McDermid, H E, Skorecki, K L, Selig, S
Published in Proceedings of the National Academy of Sciences - PNAS (28.09.1999)
Published in Proceedings of the National Academy of Sciences - PNAS (28.09.1999)
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The Human Homolog of Insect-Derived Growth Factor, CECR1, Is a Candidate Gene for Features of Cat Eye Syndrome
Riazi, M.Ali, Brinkman-Mills, Polly, Nguyen, Thuan, Pan, Huaqin, Phan, Stacey, Ying, Fu, Roe, Bruce A., Tochigi, Junko, Shimizu, Yoshiko, Minoshima, Shinsei, Shimizu, Nobuyoshi, Buchwald, Manuel, McDermid, Heather E.
Published in Genomics (San Diego, Calif.) (15.03.2000)
Published in Genomics (San Diego, Calif.) (15.03.2000)
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Disruption of the Clathrin Heavy Chain-Like Gene (CLTCL) Associated with Features of DGS/VCFS: A Balanced (21;22)(p12;q11) Translocation
Holmes, Susan E., Riazi, M. Ali, Gong, Weilong, McDermid, Heather E., Sellinger, Beatrice T., Hua, Axin, Chen, Feng, Wang, Zhili, Zhang, Guozhang, Roe, Bruce, Gonzalez, Iris, McDonald-McGinn, Donna M., Zackai, Elaine, Emanuel, Beverly S., Budarf, Marcia L.
Published in Human molecular genetics (01.03.1997)
Published in Human molecular genetics (01.03.1997)
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Journal Article
Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3
Nesslinger, N J, Gorski, J L, Kurczynski, T W, Shapira, S K, Siegel-Bartelt, J, Dumanski, J P, Cullen, Jr, R F, French, B N, McDermid, H E
Published in American journal of human genetics (01.03.1994)
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Published in American journal of human genetics (01.03.1994)
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Cat eye syndrome chromosome breakpoint clustering : identification of two intervals also associated with 22q11 deletion syndrome breakpoints
MCTAGGART, K. E, BUDARF, M. L, DRISCOLL, D. A, EMANUEL, B. S, FERREIRA, P, MCDERMID, H. E
Published in Cytogenetic and genome research (01.01.1998)
Published in Cytogenetic and genome research (01.01.1998)
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Conference Proceeding
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Cryptic terminal rearrangement of chromosome 22q13.32 detected by FISH in two unrelated patients
Doheny, K F, McDermid, H E, Harum, K, Thomas, G H, Raymond, G V
Published in Journal of medical genetics (01.08.1997)
Published in Journal of medical genetics (01.08.1997)
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Journal Article
Two Novel Human RAB Genes with Near Identical Sequence Each Map to a Telomere-Associated Region: The Subtelomeric Region of 22q13.3 and the Ancestral Telomere Band 2q13
Wong, Andrew C.C., Shkolny, Dana, Dorman, Angela, Willingham, Diana, Roe, Bruce A., McDermid, Heather E.
Published in Genomics (San Diego, Calif.) (01.08.1999)
Published in Genomics (San Diego, Calif.) (01.08.1999)
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Journal Article
Identification of a Putative Regulatory Subunit of a Calcium-Activated Potassium Channel in the dup(3q) Syndrome Region and a Related Sequence on 22q11.2
Riazi, M.Ali, Brinkman-Mills, Polly, Johnson, Angela, Naylor, Susan L., Minoshima, Shinsei, Shimizu, Nobuyoshi, Baldini, Antonio, McDermid, Heather E.
Published in Genomics (San Diego, Calif.) (15.11.1999)
Published in Genomics (San Diego, Calif.) (15.11.1999)
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Journal Article
Mapping and complex expression pattern of the human NPAP60L nucleoporin gene
TRICHET, V, SHKOLNY, D, DUNHAM, I, BEARE, D, MCDERMID, H. E
Published in Cytogenetics and cell genetics (01.01.1999)
Published in Cytogenetics and cell genetics (01.01.1999)
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Journal Article
A 1.5-Mb Contig within the Cat Eye Syndrome Critical Region at Human Chromosome 22q11.2
Johnson, Angela, Minoshima, Shinsei, Asakawa, Shuichi, Shimizu, Nobuyoshi, Shizuya, Hiroaki, Roe, Bruce A., McDermid, Heather E.
Published in Genomics (San Diego, Calif.) (15.04.1999)
Published in Genomics (San Diego, Calif.) (15.04.1999)
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Journal Article
The Gene for Death Agonist BID Maps to the Region of Human 22q11.2 Duplicated in Cat Eye Syndrome Chromosomes and to Mouse Chromosome 6
Footz, Tim K, Birren, Bruce, Minoshima, Shinsei, Asakawa, Shuichi, Shimizu, Nobuyoshi, Riazi, M.Ali, McDermid, Heather E
Published in Genomics (San Diego, Calif.) (01.08.1998)
Published in Genomics (San Diego, Calif.) (01.08.1998)
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Ring 22 duplication/deletion mosaicism: clinical, cytogenetic, and molecular characterisation
Frizzley, Jill K, Stephan, Mark J, Lamb, Allen N, Jonas, Patricia P, Hinson, Roger M, Moffitt, Donald R, Shkolny, Dana L, McDermid, Heather E
Published in Journal of medical genetics (01.03.1999)
Published in Journal of medical genetics (01.03.1999)
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