Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?
Dorfman, R, Nalpathamkalam, T, Taylor, C, Gonska, T, Keenan, K, Yuan, XW, Corey, M, Tsui, L-C, Zielenski, J, Durie, P
Published in Clinical genetics (01.05.2010)
Published in Clinical genetics (01.05.2010)
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Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly
Belloni, E, Muenke, M, Roessler, E, Traverse, G, Siegel-Bartelt, J, Frumkin, A, Mitchell, H.F, Donis-Keller, H, Helms, C, Hing, A.V, Heng, H.H.Q, Koop, B, Martindale, D, Rommens, J.M, Tsui, L.-C, Scherer, S.W
Published in Nature genetics (01.11.1996)
Published in Nature genetics (01.11.1996)
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Arrhythmia and sudden death associated with elevated cardiac chloride channel activity
Ye, L., Zhu, W., Backx, P. H., Cortez, M. A., Wu, J., Chow, Y.‐H., Mckerlie, C., Wang, A., Tsui, L.‐C., Gross, G.J., Hu, J.
Published in Journal of cellular and molecular medicine (01.11.2011)
Published in Journal of cellular and molecular medicine (01.11.2011)
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Dysregulation of cyclin dependent kinase 6 expression in splenic marginal zone lymphoma through chromosome 7q translocations
CORCORAN, M. M, MOULD, S. J, ORCHARD, J. A, IBBOTSON, R. E, CHAPMAN, R. M, BORIGHT, A. P, PLATT, C, TSUI, L.-C, SCHERER, S. W, OSCIER, D. G
Published in Oncogene (04.11.1999)
Published in Oncogene (04.11.1999)
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Molecular consequences of cystic fibrosis transmembrane regulator (CFTR) gene mutations in the exocrine pancreas
Ahmed, N, Corey, M, Forstner, G, Zielenski, J, Tsui, L-C, Ellis, L, Tullis, E, Durie, P
Published in Gut (01.08.2003)
Published in Gut (01.08.2003)
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A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome
Scherer, Stephen W, Osborne, Lucy R, Li, Martin, Pober, Barbara, Chitayat, David, Bodurtha, Joann, Mandel, Ariane, Costa, Teresa, Grebe, Theresa, Cox, Sarah, Tsui, Lap-Chee
Published in Nature genetics (01.11.2001)
Published in Nature genetics (01.11.2001)
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A mutation in CFTR produces different phenotypes depending on chromosomal background
Kiesewetter, S, Macek, M, Davis, C, Curristin, S. M, Chu, C.-S, Graham, C, Shrimpton, A. E, Cashman, S. M, Tsui, L.-C, Mickle, J, Amos, J, Highsmith, W. E, Shuber, A, Witt, D. R, Crystal, R. G, Cutting, G. R
Published in Nature genetics (01.11.1993)
Published in Nature genetics (01.11.1993)
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Nonsteroidal anti-inflammatory drugs upregulate function of wild-type and mutant CFTR
Li, J, Xiang, Y-Y, Ye, L, Tsui, L-C, MacDonald, J. F, Hu, J, Lu, W-Y
Published in The European respiratory journal (01.08.2008)
Published in The European respiratory journal (01.08.2008)
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Mutations in the C-Terminal Domain of Sonic Hedgehog Cause Holoprosencephaly
Roessler, Erich, Belloni, Elena, Gaudenz, Karin, Vargas, Fernando, Scherer, Stephen W., Tsui, Lap-Chee, Muenke, Maximilian
Published in Human molecular genetics (01.10.1997)
Published in Human molecular genetics (01.10.1997)
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Fine mapping of the X-linked split-hand/split-foot malformation (SHFM2) locus to a 5.1-Mb region on Xq26.3 and analysis of candidate genes
Faiyaz-Ul-Haque, M, Zaidi, SHE, King, LM, Haque, S, Patel, M, Ahmad, M, Siddique, T, Ahmad, W, Tsui, L-C, Cohn, DH
Published in Clinical genetics (01.01.2005)
Published in Clinical genetics (01.01.2005)
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Molecular Analysis of the Pds Gene in Pendred Syndrome (Sensorineural Hearing Loss and Goitre)
Coyle, Beth, Reardon, William, Herbrick, Jo-Anne, Tsui, Lap-Chee, Gausden, Eleanor, Lee, Jeffrey, Coffey, Rebecca, Grueters, Annette, Grossman, Ashley, Phelps, Peter D., Luxon, Linda, Kendall-Taylor, Pat, Scherer, Stephen W., Trembath, Richard C.
Published in Human molecular genetics (01.07.1998)
Published in Human molecular genetics (01.07.1998)
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Involvement of the HLXB9 Homeobox Gene in Currarino Syndrome
Belloni, E., Martucciello, G., Verderio, D., Ponti, E., Seri, M., Jasonni, V., Torre, M., Ferrari, M., Tsui, L.-C., Scherer, S.W.
Published in American journal of human genetics (2000)
Published in American journal of human genetics (2000)
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Mutations in the human Sonic Hedgehog gene cause holoprosencephaly
Gaudenz, Karin, Jay, Philippe, Berta, Philippe, Scherer, Stephen W, Belloni, Elena, Roessler, Erich, Tsui, Lap-Chee, Muenke, Maximilian
Published in Nature genetics (01.11.1996)
Published in Nature genetics (01.11.1996)
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Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13
Zielenski, Julian, Bal, Jerzy, Cutting, Garry R, Macek, Milan, Palacio, Ana, Ferec, Claude, Larriba, Sara, Marshall, Bruce C, Krebsova, Alice, Markiewicz, Danuta, Casals, Teresa, Claustres, Mirreille, Durie, Peter, Tsui, Lap-Chee, Corey, Mary, Langfelder-Schwind, Elinor, Rozmahel, Richard, DeCelie-Germana, J, Nowakowska, Aleksandra, Mercier, Bernard, Estivill, Xavier, Aznarez, Isabel
Published in Nature genetics (01.06.1999)
Published in Nature genetics (01.06.1999)
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Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubism
Lo, Bryan, Faiyaz-Ul-Haque, M., Kennedy, S., Aviv, R., Tsui, L.-C., Teebi, Ahmad S.
Published in American journal of medical genetics. Part A (15.08.2003)
Published in American journal of medical genetics. Part A (15.08.2003)
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The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein
Kobayashi, Keiko, Scherer, Stephen W, Sinasac, David S, Iijima, Mikio, Boright, Andrew P, Begum, Laila, Lee, Jeffrey R, Yasuda, Tomotsugu, Ikeda, Sayaka, Hirano, Ryuki, Terazono, Hiroki, Crackower, Michael A, Kondo, Ikuko, Tsui, Lap-Chee, Saheki, Takeyori
Published in Nature genetics (01.06.1999)
Published in Nature genetics (01.06.1999)
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Proportion of Cystic Fibrosis Gene Mutations Not Detected by Routine Testing in Men With Obstructive Azoospermia
Mak, Victor, Zielenski, Julian, Tsui, Lap-Chee, Durie, Peter, Zini, Armand, Martin, Sheelagh, Longley, Teresa Barry, Jarvi, Keith A
Published in JAMA : the journal of the American Medical Association (16.06.1999)
Published in JAMA : the journal of the American Medical Association (16.06.1999)
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Visual Assessment of Contusion-Like Lesions Caused by Live Sharksucker (Echeneis naucrates) Attachment in an Indo-Pacific Humpback Dolphin (Sousa chinensis)
Ho, Heysen H. N, Kot, Brian C. W, Tsui, Henry C. L, Chung, Tabris Y. T
Published in Journal of wildlife diseases (01.04.2022)
Published in Journal of wildlife diseases (01.04.2022)
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