Sequence Analysis, Identification of Evolutionary Conserved Motifs and Expression Analysis of Murine tcof1 Provide Further Evidence for a Potential Function for the Gene and Its Human Homologue, TCOF1
Dixon, Jill, Hovanes, Karine, Shiang, Rita, Dixon, Michael J.
Published in Human molecular genetics (01.05.1997)
Published in Human molecular genetics (01.05.1997)
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Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I
Tavormina, P L, Rimoin, D L, Cohn, D H, Zhu, Y Z, Shiang, R, Wasmuth, J J
Published in Human molecular genetics (01.11.1995)
Published in Human molecular genetics (01.11.1995)
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A Homozygous Mutation in a Novel Zinc-Finger Protein, ERIS, Is Responsible for Wolfram Syndrome 2
Amr, Sami, Heisey, Cindy, Zhang, Min, Xia, Xia-Juan, Shows, Kathryn H., Ajlouni, Kamel, Pandya, Arti, Satin, Leslie S., El-Shanti, Hatem, Shiang, Rita
Published in American journal of human genetics (01.10.2007)
Published in American journal of human genetics (01.10.2007)
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Hyperekplexia-like syndromes without mutations in the GLRA1 gene
Vergouwe, M.N., Tijssen, M.A.J., Shiang, R., van Dijk, J.G., Shahwan, Saad Al, Ophoff, R.A., Frants, R.R.
Published in Clinical neurology and neurosurgery (01.08.1997)
Published in Clinical neurology and neurosurgery (01.08.1997)
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Genetic and radiation hybrid mapping of the hyperekplexia region on chromosome 5q
RYAN, S. G, DIXON, M. J, NIGRO, M. A, KELTS, A, MARKAND, O. N, TERRY, J. C, SHIANG, R, WASMUTH, J. J, O'CONNELL, P
Published in American journal of human genetics (01.12.1992)
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Published in American journal of human genetics (01.12.1992)
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Non-random association between alleles detected at D4S95 and D4S98 and the Huntington's disease gene
Theilmann, J, Kanani, S, Shiang, R, Robbins, C, Quarrell, O, Huggins, M, Hedrick, A, Weber, B, Collins, C, Wasmuth, J J
Published in Journal of medical genetics (01.11.1989)
Published in Journal of medical genetics (01.11.1989)
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Mutations in ANKH Cause Chondrocalcinosis
Pendleton, Adrian, Johnson, Michelle D., Hughes, Anne, Gurley, Kyle A., Ho, Andrew M., Doherty, Michael, Dixey, Josh, Gillet, Pierre, Loeuille, Damien, McGrath, Rodney, Reginato, Antonio, Shiang, Rita, Wright, Gary, Netter, Patrick, Williams, Charlene, Kingsley, David M.
Published in American journal of human genetics (01.10.2002)
Published in American journal of human genetics (01.10.2002)
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Assessing quality of life for adolescents in Taiwan
FUH, JONG‐LING, WANG, SHUU‐JIUN, LU, SHIANG‐RU, JUANG, KAI‐DIH
Published in Psychiatry and clinical neurosciences (01.02.2005)
Published in Psychiatry and clinical neurosciences (01.02.2005)
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Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia
Shiang, Rita, Thompson, Leslie M., Zhu, Ya-Zhen, Church, Deanna M., Fielder, Thomas J., Bocian, Maureen, Winokur, Sara T., Wasmuth, John J.
Published in Cell (29.07.1994)
Published in Cell (29.07.1994)
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GLRB is the third major gene of effect in hyperekplexia
Chung, S.-K., Bode, A., Cushion, T. D., Thomas, R. H., Hunt, C., Wood, S.-E., Pickrell, W. O., Drew, C. J. G., Yamashita, S., Shiang, R., Leiz, S., Longardt, A.-C., Raile, V., Weschke, B., Puri, R. D., Verma, I. C., Harvey, R. J., Ratnasinghe, D. D., Parker, M., Rittey, C., Masri, A., Lingappa, L., Howell, O. W., Vanbellinghen, J.-F., Mullins, J. G., Lynch, J. W., Rees, M. I.
Published in Human molecular genetics (15.06.2013)
Published in Human molecular genetics (15.06.2013)
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The CEPH Consortium Linkage Map of Human Chromosome 13
Bowcock, Anne M., Gerken, Steven C., Barnes, Robert I., Shiang, Rita, Jabs, Ethylin Wang, Warren, Andrew C., Antonarakis, Stylianos, Retief, Andries E., Vergnaud, Gilles, Leppert, Mark, Lalouel, Jean-Marc, White, Raymond L., Cavalli-Sforza, L.Luca
Published in Genomics (San Diego, Calif.) (01.05.1993)
Published in Genomics (San Diego, Calif.) (01.05.1993)
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Autosomal Dominant Craniometaphyseal Dysplasia Is Caused by Mutations in the Transmembrane Protein ANK
Reichenberger, Ernst, Tiziani, Valdenize, Watanabe, Shoji, Park, Lucy, Ueki, Yasuyoshi, Santanna, Carla, Baur, Scott T., Shiang, Rita, Grange, Dorothy K., Beighton, Peter, Gardner, Jessica, Hamersma, Herman, Sellars, Sean, Ramesar, Rajkumar, Lidral, Andrew C., Sommer, Annmarie, Raposo do Amaral, Cassio M., Gorlin, Robert J., Mulliken, John B., Olsen, Bjorn R.
Published in American journal of human genetics (01.06.2001)
Published in American journal of human genetics (01.06.2001)
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A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
MacDonald, Marcy E., Ambrose, Christine M., Duyao, Mabel P., Myers, Richard H., Lin, Carol, Srinidhi, Lakshmi, Barnes, Glenn, Taylor, Sherryl A., James, Marianne, Groot, Nicolet, MacFarlane, Heather, Jenkins, Barbara, Anderson, Mary Anne, Wexler, Nancy S., Gusella, James F., Bates, Gillian P., Baxendale, Sarah, Hummerich, Holger, Kirby, Susan, North, Mike, Youngman, Sandra, Mott, Richard, Zehetner, Gunther, Sedlacek, Zdenek, Poustka, Annemarie, Frischauf, Anna-Maria, Lehrach, Hans, Buckler, Alan J., Church, Deanna, Doucette-Stamm, Lynn, O'Donovan, Michael C., Riba-Ramirez, Laura, Shah, Manish, Stanton, Vincent P., Strobel, Scott A., Draths, Karen M., Wales, Jennifer L., Dervan, Peter, Housman, David E., Altherr, Michael, Shiang, Rita, Thompson, Leslie, Fielder, Thomas, Wasmuth, John J., Tagle, Danilo, Valdes, John, Elmer, Lawrence, Allard, Marc, Castilla, Lucio, Swaroop, Manju, Blanchard, Kris, Collins, Francis S., Snell, Russell, Holloway, Tracey, Gillespie, Kathleen, Datson, Nicole, Shaw, Duncan, Harper, Peter S.
Published in Cell (26.03.1993)
Published in Cell (26.03.1993)
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Pairwise linkage analysis of 11 loci on human chromosome 4
Murray, J C, Buetow, K H, Smith, M, Carlock, L, Chakravarti, A, Ferrell, R F, Gedamu, L, Gilliam, C, Shiang, R, DeHaven, C R
Published in American journal of human genetics (01.03.1988)
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Published in American journal of human genetics (01.03.1988)
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Genes encoding adrenergic receptors are not clustered on the long arm of human chromosome 5
Loftus, S K, Shiang, R, Warrington, J A, Bengtsson, U, McPherson, J D, Wasmuth, J J
Published in Cytogenetics and cell genetics (01.01.1994)
Published in Cytogenetics and cell genetics (01.01.1994)
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