1 - 25 of 120 results for author:"Tsui L.-C." in Literature citations
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| 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 X.W., Corey M., Tsui L.C., Zielenski J., Durie P. Clin. Genet. 77:464-473(2010) · Mapped (45) |
| Modifier gene study of meconium ileus in cystic fibrosis: statistical considerations and gene mapping results. Dorfman R., Li W., Sun L., Lin F., Wang Y., Sandford A., Pare P.D., McKay K., Kayserova H., Piskackova T. et al. Hum. Genet. 126:763-778(2009) · Mapped (5) |
| A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome. Faiyaz-Ul-Haque M., Zaidi S.H., Al-Sanna N., Alswaid A., Momenah T., Kaya N., Al-Dayel F., Bouhoaigah I., Saliem M., Tsui L.C. et al. Atherosclerosis 203:466-471(2009) · Mapped (4) |
| Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families. Faiyaz-Ul-Haque M., Zaidi S.H., Wahab A.A., Eltohami A., Al-Mureikhi M.S., Al-Thani G., Peltekova V.D., Tsui L.C., Teebi A.S. Clin. Genet. 74:189-193(2008) · Mapped (4) |
| A systematic analysis of intronic sequences downstream of 5' splice sites reveals a widespread role for U-rich motifs and TIA1/TIAL1 proteins in alternative splicing regulation. Aznarez I., Barash Y., Shai O., He D., Zielenski J., Tsui L.C., Parkinson J., Frey B.J., Rommens J.M., Blencowe B.J. Genome Res. 18:1247-1258(2008) · Mapped (11) |
| 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. Eur. Respir. J. 32:334-343(2008) · Mapped (45) |
| Complex two-gene modulation of lung disease severity in children with cystic fibrosis. Dorfman R., Sandford A., Taylor C., Huang B., Frangolias D., Wang Y., Sang R., Pereira L., Sun L., Berthiaume Y. et al. J. Clin. Invest. 118:1040-1049(2008) · Mapped (12) |
| Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar. Faiyaz-Ul-Haque M., Zaidi S.H., Al-Mureikhi M.S., Peltekova I., Tsui L.C., Teebi A.S. Clin. Genet. 72:164-166(2007) · Mapped (1) |
| Citrin/mitochondrial glycerol-3-phosphate dehydrogenase double knock-out mice recapitulate features of human citrin deficiency. Saheki T., Iijima M., Li M.X., Kobayashi K., Horiuchi M., Ushikai M., Okumura F., Meng X.J., Inoue I., Tajima A. et al. J. Biol. Chem. 282:25041-25052(2007) · Mapped (5) |
| Exon skipping through the creation of a putative exonic splicing silencer as a consequence of the cystic fibrosis mutation R553X. Aznarez I., Zielenski J., Rommens J.M., Blencowe B.J., Tsui L.C. J. Med. Genet. 44:341-346(2007) · Mapped (45) |
| The cystic fibrosis transmembrane conductance regulator gene and ion channel function in patients with idiopathic pancreatitis. Bishop M.D., Freedman S.D., Zielenski J., Ahmed N., Dupuis A., Martin S., Ellis L., Shea J., Hopper I., Corey M. et al. Hum. Genet. 118:372-381(2005) · Mapped (45) |
| Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency. Lu Y.B., Kobayashi K., Ushikai M., Tabata A., Iijima M., Li M.X., Lei L., Kawabe K., Taura S., Yang Y. et al. J. Hum. Genet. 50:338-346(2005) · Mapped (5) |
| Altered expression and deletion of RMO1 in osteosarcoma. Eppert K., Wunder J.S., Aneliunas V., Tsui L.-C., Scherer S.W., Andrulis I.L. Int. J. Cancer 114:738-746(2005) · UniProtKB (1) · Mapped (2) |
| Characterization of the segmental duplication LCR7-20 in the human genome. Liu X., Li X., Li M., Acimovic Y.J., Li Z., Scherer S.W., Estivill X., Tsui L.C. Genomics 83:262-269(2004) · Mapped (45) |
| Slc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemia. Sinasac D.S., Moriyama M., Jalil M.A., Begum L., Li M.X., Iijima M., Horiuchi M., Robinson B.H., Kobayashi K., Saheki T. et al. Mol. Cell. Biol. 24:527-536(2004) · Mapped (8) |
| Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene. Aznarez I., Chan E.M., Zielenski J., Blencowe B.J., Tsui L.-C. Hum. Mol. Genet. 12:2031-2040(2003) · UniProtKB (1) |
| Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubism. Lo B., Faiyaz-Ul-Haque M., Kennedy S., Aviv R., Tsui L.-C., Teebi A.S. Am. J. Med. Genet. A 121:37-40(2003) · UniProtKB (1) |
| 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. Gut 52:1159-1164(2003) · Mapped (45) |
| Increased prevalence of CFTR mutations and variants and decreased chloride secretion in primary sclerosing cholangitis. Sheth S., Shea J.C., Bishop M.D., Chopra S., Regan M.M., Malmberg E., Walker C., Ricci R., Tsui L.C., Durie P.R. et al. Hum. Genet. 113:286-292(2003) · Mapped (45) |
| Identification of a novel lipase gene mutated in lpd mice with hypertriglyceridemia and associated with dyslipidemia in humans. Wen X.-Y., Hegele R.A., Wang J., Wang D.Y., Cheung J., Wilson M., Yahyapour M., Bai Y., Zhuang L., Skaug J. et al. Hum. Mol. Genet. 12:1131-1143(2003) · UniProtKB (2) · Mapped (3) |
| Human chromosome 7: DNA sequence and biology. Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R. et al. Science 300:767-772(2003) · UniProtKB (622) |
| Mapping of genetic factors influencing the weight of cystic fibrosis knockout mice. Haston C.K., Corey M., Tsui L.C. Mamm. Genome 13:614-618(2002) · Mapped (5) |
| Detection of modifier loci influencing the lung phenotype of cystic fibrosis knockout mice. Haston C.K., McKerlie C., Newbigging S., Corey M., Rozmahel R., Tsui L.C. Mamm. Genome 13:605-613(2002) · Mapped (5) |
| Genotype and phenotype correlations in patients with cystic fibrosis and pancreatitis. Durno C., Corey M., Zielenski J., Tullis E., Tsui L.C., Durie P. Gastroenterology 123:1857-1864(2002) · Mapped (45) |
| Loci of intestinal distress in cystic fibrosis knockout mice. Haston C.K., Tsui L.C. Physiol. Genomics 12:79-84(2003) · Mapped (5) |