Mutations in TWIST , a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome
Green, Eric D, Delgado, Costanza Garcia, Howard, Timothy D, Luna, Rosa Isela Ortiz De, Ma, Nancy, Gonzalez-Ramos, Mario, Jabs, Ethylin Wang, Chiang, Lydia C, Paznekas, William A, Kline, Antoine D
Published in Nature genetics (01.01.1997)
Published in Nature genetics (01.01.1997)
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Journal Article
Genetic Heterogeneity of Saethre-Chotzen Syndrome, Due to TWIST and FGFR Mutations
Paznekas, William A., Cunningham, Michael L., Howard, Timothy D., Korf, Bruce R., Lipson, Mark H., Grix, Art W., Feingold, Murray, Goldberg, Rosalie, Borochowitz, Zvi, Aleck, Kirk, Mulliken, John, Yin, Mingfei, Jabs, Ethylin Wang
Published in American journal of human genetics (01.06.1998)
Published in American journal of human genetics (01.06.1998)
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Journal Article
Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome
Isaac, C, Marsh, K L, Paznekas, W A, Dixon, J, Dixon, M J, Jabs, E W, Meier, U T
Published in Molecular biology of the cell (01.09.2000)
Published in Molecular biology of the cell (01.09.2000)
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Journal Article
Fibroblast growth factor receptor 2 (FGFR2): genomic sequence and variations
Ingersoll, R.G., Paznekas, W.A., Tran, A.K., Scott, A.F., Jiang, G., Jabs, E.W.
Published in Cytogenetic and genome research (01.01.2001)
Published in Cytogenetic and genome research (01.01.2001)
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Journal Article
Genomic Organization, Expression, and Chromosome Location of the Human SNAIL Gene (SNAI1) and a Related Processed Pseudogene (SNAI1P)
Paznekas, William A., Okajima, Kazuki, Schertzer, Michael, Wood, Stephen, Jabs, Ethylin Wang
Published in Genomics (San Diego, Calif.) (15.11.1999)
Published in Genomics (San Diego, Calif.) (15.11.1999)
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Journal Article
Human SLUG gene organization, expression, and chromosome map location on 8q
COHEN, M. E, MINGFEI YIN, PAZNEKAS, W. A, SCHERTZER, M, WOOD, S, WANG JABS, E
Published in Genomics (San Diego, Calif.) (01.08.1998)
Published in Genomics (San Diego, Calif.) (01.08.1998)
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Journal Article
Definition of a lipopolysaccharide-responsive element in the 5'-flanking regions of MuRantes and crg-2
SHIN, H. S, DRYSDALE, B.-E, SHIN, M. L, NOBLE, P. W, FISHER, S. N, PAZNEKAS, W. A
Published in Molecular and Cellular Biology (01.05.1994)
Published in Molecular and Cellular Biology (01.05.1994)
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Journal Article
Physical map of the chromosome 6q22 region containing the oculodentodigital dysplasia locus: analysis of thirteen candidate genes and identification of novel ESTs and DNA polymorphisms
Boyadjiev, S.A., Chowdry, A.B., Shapiro, R.E., Paznekas, W.A., Wandstrat, A.E., Choi, J.W., Kasch, L., Zhang, G., Wollnik, B., Burgess, C.E., Schalling, M., Lovett, M., Jabs, E.W.
Published in Cytogenetic and genome research (01.01.2002)
Published in Cytogenetic and genome research (01.01.2002)
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Journal Article
Polymorphisms in the Human SNAIL (SNAI1) gene
Okajima, K., Paznekas, W.A., Burstyn, T., Jabs, E.W.
Published in Molecular and cellular probes (01.02.2001)
Published in Molecular and cellular probes (01.02.2001)
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Journal Article
TCOF1 Gene Encodes a Putative Nucleolar Phosphoprotein that Exhibits Mutations in Treacher Collins Syndrome throughout its Coding Region
Wise, Carol A., Chiang, Lydia C., Paznekas, William A., Sharma, Mridula, Musy, Maurice M., Ashley, Jennifer A., Lovett, Michael, Jabs, Ethylin W.
Published in Proceedings of the National Academy of Sciences - PNAS (01.04.1997)
Published in Proceedings of the National Academy of Sciences - PNAS (01.04.1997)
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Journal Article
Consequences of Cell Membrane Attack by Complement: Release of Arachidonate and Formation of Inflammatory Derivatives
Imagawa, David K., Osifchin, Nicole E., Paznekas, William A., Shin, Moon L., Mayer, Manfred M.
Published in Proceedings of the National Academy of Sciences - PNAS (01.11.1983)
Published in Proceedings of the National Academy of Sciences - PNAS (01.11.1983)
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Journal Article
On the mechanism of membrane damage by C: exposure of hydrophobic sites on activated C proteins
Shin, M L, Paznekas, W A, Abramovitz, A S, Mayer, M M
Published in The Journal of immunology (1950) (01.10.1977)
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Published in The Journal of immunology (1950) (01.10.1977)
Journal Article
Connexin 43 (GJA1) Mutations Cause the Pleiotropic Phenotype of Oculodentodigital Dysplasia
Paznekas, William A., Boyadjiev, Simeon A., Shapiro, Robert E., Daniels, Otto, Wollnik, Bernd, Keegan, Catherine E., Innis, Jeffrey W., Dinulos, Mary Beth, Christian, Cathy, Hannibal, Mark C., Jabs, Ethylin Wang
Published in American journal of human genetics (01.02.2003)
Published in American journal of human genetics (01.02.2003)
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Journal Article
Oculodentodigital dysplasia connexin43 mutations result in non-functional connexin hemichannels and gap junctions in C6 glioma cells
Lai, Albert, Le, Dung-Nghi, Paznekas, William A, Gifford, Wes D, Jabs, Ethylin Wang, Charles, Andrew C
Published in Journal of cell science (01.02.2006)
Published in Journal of cell science (01.02.2006)
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On the Mechanism of Membrane Damage by Complement: The Effect of Length and Unsaturation of the Acyl Chains in Liposomal Bilayers and the Effect of Cholesterol Concentration in Sheep Erythrocyte and Liposomal Membranes
Shin, Moon L, Paznekas, William A, Mayer, Manfred M
Published in The Journal of immunology (1950) (01.06.1978)
Published in The Journal of immunology (1950) (01.06.1978)
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Journal Article
Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening
JUANLIANG CAI, GOODMAN, Barbara K, DAENTL, Donna L, JABS, Ethylin Wang, PATEL, Ankita S, MULLIKEN, John B, VAN MALDERGEM, Lionel, HOGANSON, George E, PAZNEKAS, William A, BEN-NERIAH, Ziva, SHEFFER, Ruth, CUNNINGHAM, Michael L
Published in Human genetics (01.12.2003)
Published in Human genetics (01.12.2003)
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