Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes... von Vega, H, Trainer, A H, Gordillo, M, Crosier, M, Kayserili, H, Skovby, F, Uzielli, M L Giovannucci, Schnur, R E, Manouvrier, S, Blair, E, Hurst, J A, Forzano, F, Meins, M, Simola, K O J, Raas-Rothschild, A, Hennekam, R C M, Jabs, E Wang

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A novel mutation in the TWIST gene, implicated in Saethre-Chotzen syndrome, is found in the original case of Robinow-Sorauf syndrome von Cai, J, Shoo, BA, Sorauf, T, Wang Jabs, E

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Complete cDNA sequence of a human dioxin-inducible mRNA identifies a new gene subfamily of cytochrome P450 that maps to chromosome 2 von SUTTER, T. R, YONG MING TANG, HAYES, C. L, YU-YUAN P. WO, ETHYLIN WANG JABS, XIANG LI, HONG YIN, CODY, C. W, GREENLEE, W. F

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Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening von 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

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Toward understanding the pathogenesis of craniosynostosis through clinical and molecular correlates von Jabs, Ethylin Wang

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Phenotypic variability in 49 cases of ESC02 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes... von VEGA, H, TRAINER, A. H, HURST, J. A, FORZANO, F, MEINS, M, SIMOLA, K. O. J, RAAS-ROTHSCHILD, A, HENNEKAM, R. C. M, JABS, E. Wang, GORDILLO, M, CROSIER, M, KAYSERILI, H, SKOVBY, F, GIOVANNUCCI UZIELLI, M. L, SCHNUR, R. E, MANOUVRIER, S, BLAIR, E

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Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome von Przylepa, Kelly A, Paznekas, William, Zhang, Minghuang, Golabi, Mahin, Bias, Wilma, Bamshad, Michael J, Carey, John C, Hall, Bryan D, Stevenson, Roger, Orlow, Seth J, Cohen Jr, M. Michael, Jabs, Ethylin Wang

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A NHE3-related pseudogene is on human Chromosome 10; the functional gene maps to 5pl5.3 von Kokke, F T, Elsawy, T, Bengtsson, U, Wasmuth, J J, Wang Jabs, E, Tse, C M, Donowitz, M, Brant, S R

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Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome von Li, Xiang, Park, Woo-Jin, Pyeritz, Reed E, Jabs, Ethylin Wang

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Human SLUG gene organization, expression, and chromosome map location on 8q von COHEN, M. E, MINGFEI YIN, PAZNEKAS, W. A, SCHERTZER, M, WOOD, S, WANG JABS, E

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Cloning, overexpression, and genomic mapping of the 14-kDa subunit of human replication protein A von UMBRICHT, C. B, ERDILE, L. F, WANG JABS, E, KELLY, T. J

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Human and Mouse Chromosomal Mapping of the Myeloid Cell Leukemia-1 Gene: MCL1 Maps to Human Chromosome 1q21, a Region That Is Frequently Altered in Preneoplastic and Neoplastic Dis... von Craig, Ruth W., Jabs, Ethylin Wang, Zhou, Ping, Kozopas, Karen M., Hawkins, Anita L., Rochelle, Julie M., Seldin, Michael F., Griffins, Constance A.

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Mapping the Treacher Collins syndrome locus to 5q31.3→q33.3 von Wang Jabs, Ethylin, Li, Xiang, Coss, Cathleen A., Taylor, Eugene W., Meyers, Deborah A., Weber, James L.

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A YAC Contig of Approximately 3 Mb from Human Chromosome 5q31 → q33 von Li, Xiang, Wise, Carol A., Le Paslier, Denis, Hawkins, Anita L., Griffin, Constance A., Pittler, Steven J., Lovett, Michael, Jabs, Ethylin Wang

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Chromosomal assignment of a gene encoding a new collagen type (COL15A1) to 9q21 → q22 von Huebner, Kay, Cannizzaro, Linda A., Jabs, Ethylin Wang, Kiyirikko, Sirpa, Manzone, Holly, Pihlajaniemi, Taina, Myers, Jeanne C.

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Characterization of human centromeric regions of specific chromosomes by means of alphoid DNA sequences von WANG JABS, E, PERSICO, M. G

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Two Craniosynostotic Syndrome Loci, Crouzon and Jackson-Weiss, Map to Chromosome 10q23-q26 von Li, Xiang, Lewanda, Amy Feldman, Eluma, Fabian, Jerald, Heather, Choi, Hoon, Alozie, Ihuoma, Proukakis, Christos, Talbot, C.Conover, Kolk, Craig Vander, Bird, Lynne M., Jones, Marilyn C., Cunningham, Michael, Clarren, Sterling K., Pyeritz, Reed E., Weissenbach, Jean, Jackson, Charles E., Jabs, Ethylin Wang

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Chromosomal localization of genes required for the terminal steps of oxidative metabolism : α and γ subunits of ATP synthase and the phosphate carrier von WANG JABS, E, THOMAS, P. J, BERNSTEIN, M, COSS, C, FERREIRA, G. C, PEDERSEN, P. L

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Association of a new chromosomal deletion [del(1)(q32q42)] with diaphragmatic hernia: assignment of a human ferritin gene von YOUSSOUFIAN, H, CHANCE, P, TUCK-MULLER, C. M, WANG JABS, E

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A centromere-based genetic map of the short arm of human chromosome 6 von Blanché, Helene, Zoghbi, Huda Y., Jabs, Ethylin Wang, de Gouyon, Beatrice, Zunec, Renata, Dausset, Jean, Cann, Howard M.

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