Results 1 to 20 of 396
Page 1 of 20  Next >
TypeTitleAuthor(s)YearViews
Arrhythmia and sudden death associated with elevated cardiac chloride channel activity
Journal:
Journal of Cellular and Molecular Medicine
Publisher:
Wiley-Blackwell Publishing Ltd.. The Journal's web site is located at http://www.wiley.com/bw/journal.asp?ref=1582-1838
Ye, L; Zhu, W; Backx, PH; Cortez, MA; Wu, J; Chow, YH; Mckerlie, C; Wang, A; Tsui, LC; Gross, GJ; Hu, J2011189
 
Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?
Journal:
Clinical Genetics
Publisher:
Blackwell Munksgaard. The Journal's web site is located at http://www.blackwellpublishing.com/journals/CGE
Dorfman, R; Nalpathamkalam, T; Taylor, C; Gonska, T; Keenan, K; Yuan, XW; Corey, M; Tsui, LC; Zielenski, J; Durie, P2010108
 
A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome
Journal:
Atherosclerosis
Publisher:
Elsevier Ireland Ltd. The Journal's web site is located at http://www.elsevier.com/locate/atherosclerosis
FaiyazUlHaque, M; Zaidi, SHE; AlSanna, N; Alswaid, A; Momenah, T; Kaya, N; AlDayel, F; Bouhoaigah, I; Saliem, M; Tsui, LC; Teebi, AS2009443
 
Modifier gene study of meconium ileus in cystic fibrosis: Statistical considerations and gene mapping results
Journal:
Human Genetics
Publisher:
Springer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00439/index.htm
Dorfman, R; Li, W; Sun, L; Lin, F; Wang, Y; Sandford, A; Paré, PD; McKay, K; Kayserova, H; Piskackova, T; MacEk, M; Czerska, K; Sands, D; Tiddens, H; Margarit, S; Repetto, G; Sontag, MK; Accurso, FJ; Blackman, S; Cutting, GR; Tsui, LC; Corey, M; Durie, P; Zielenski, J; Strug, LJ2009200
 
Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families
Journal:
Clinical Genetics
Publisher:
Blackwell Munksgaard. The Journal's web site is located at http://www.blackwellpublishing.com/journals/CGE
FaiyazulHaque, M; Zaidi, SHE; Wahab, AA; Eltohami, A; AlMureikhi, MS; AlThani, G; Peltekova, VD; Tsui, LC; Teebi, AS2008182
 
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
Journal:
Genome Research
Publisher:
Cold Spring Harbor Laboratory Press, Publications Department. The Journal's web site is located at http://www.genome.org
Aznarez, I; Barash, Y; Shai, O; He, D; Zielenski, J; Tsui, LC; Parkinson, J; Frey, BJ; Rommens, JM; Blencowe, BJ2008401
 
Nonsteroidal anti-inflammatory drugs upregulate function of wild-type and mutant CFTR
Journal:
European Respiratory Journal
Publisher:
European Respiratory Society. The Journal's web site is located at http://erj.ersjournals.com
Li, J; Xiang, YY; Ye, L; Tsui, LC; MacDonald, JF; Hu, J; Lu, WY2008180
 
Complex two-gene modulation of lung disease severity in children with cystic fibrosis
Journal:
Journal of Clinical Investigation
Publisher:
American Society for Clinical Investigation. The Journal's web site is located at http://www.jci.org
Dorfman, R; Sandford, A; Taylor, C; Huang, B; Frangolias, D; Wang, Y; Sang, R; Pereira, L; Sun, L; Berthiaume, Y; Tsui, LC; Paré, PD; Durie, P; Corey, M; Zielenski, J2008212
 
Citrin/mitochondrial glycerol-3-phosphate dehydrogenase double knock-out mice recapitulate features of human citrin deficiency
Journal:
Journal of Biological Chemistry
Publisher:
American Society for Biochemistry and Molecular Biology, Inc. The Journal's web site is located at http://www.jbc.org/
Saheki, T; Iijima, M; Meng, XL; Kobayashi, K; Horiuchi, M; Ushikai, M; Okumura, F; Xiao, JM; Inoue, I; Tajima, A; Moriyama, M; Eto, K; Kadowaki, T; Sinasac, DS; Tsui, LC; Tsuji, M; Okano, A; Kobayashi, T2007273
 
Exon skipping through the creation of a putative exonic splicing silencer as a consequence of the cystic fibrosis mutation R553X
Journal:
Journal of Medical Genetics
Publisher:
BMJ Group. The Journal's web site is located at http://jmg.bmj.com/
Aznarez, I; Zielenski, J; Rommens, JM; Blencowe, BJ; Tsui, LC2007230
 
A second generation human haplotype map of over 3.1 million SNPs
Journal:
Nature
Publisher:
Nature Publishing Group. The Journal's web site is located at http://www.nature.com/nature
Frazer, KA; Ballinger, DG; Cox, DR; Hinds, DA; Stuve, LL; Gibbs, RA; Belmont, JW; Boudreau, A; Hardenbol, P; Leal, SM; Pasternak, S; Wheeler, DA; Willis, TD; Yu, F; Yang, H; Zeng, C; Gao, Y; Hu, H; Hu, W; Li, C; Lin, W; Liu, S; Pan, H; Tang, X; Wang, J; Wang, W; Yu, J; Zhang, B; Zhang, Q; Zhao, H; Zhao, H; Zhou, J; Gabriel, SB; Barry, R; Blumenstiel, B; Camargo, A; Defelice, M; Faggart, M; Goyette, M; Gupta, S; Moore, J; Nguyen, H; Onofrio, RC; Parkin, M; Roy, J; Stahl, E; Winchester, E; Ziaugra, L; Altshuler, D; Shen, Y; Yao, Z; Huang, W; Chu, X; He, Y; Jin, L; Liu, Y; Shen, Y; Sun, W; Wang, H; Wang, Y; Wang, Y; Xiong, X; Xu, L; Waye, MMY; Tsui, SKW; Xue, H; Wong, JTF; Galver, LM; Fan, JB; Gunderson, K; Murray, SS; Oliphant, AR; Chee, MS; Montpetit, A; Chagnon, F; Ferretti, V; Leboeuf, M; Olivier, JF; Phillips, MS; Roumy, S; Sallée, C; Verner, A; Hudson, TJ; Kwok, PY; Cai, D; Koboldt, DC; Miller, RD; Pawlikowska, L; TaillonMiller, P; Xiao, M; Tsui, LC; Mak, W; You, QS; Tam, PKH; Nakamura, Y; Kawaguchi, T; Kitamoto, T; Morizono, T; Nagashima, A; Ohnishi, Y; Sekine, A; Tanaka, T; Tsunoda, T; Deloukas, P; Bird, CP; Delgado, M; Dermitzakis, ET; Gwilliam, R; Hunt, S; Morrison, J; Powell, D; Stranger, BE; Whittaker, P; Bentley, DR; Daly, MJ; De Bakker, PIW; Barrett, J; Chretien, YR; Maller, J; McCarroll, S; Patterson, N; Pe'Er, I; Price, A; Purcell, S; Richter, DJ; Sabeti, P; Saxena, R; Schaffner, SF; Sham, PC; Varilly, P; Stein, LD; Krishnan, L; Smith, AV; TelloRuiz, MK; Thorisson, GA; Chakravarti, A; Chen, PE; Cutler, DJ; Kashuk, CS; Lin, S; Abecasis, GR; Guan, W; Li, Y; Munro, HM; Qin, ZS; Thomas, DJ; McVean, G; Auton, A; Bottolo, L; Cardin, N; Eyheramendy, S; Freeman, C; Marchini, J; Myers, S; Spencer, C; Stephens, M; Donnelly, P; Cardon, LR; Clarke, G; Evans, DM; Morris, AP; Weir, BS; Johnson, TA; Mullikin, JC; Sherry, ST; Feolo, M; Skol, A; Zhang, H; Matsuda, I; Fukushima, Y; MacEr, DR; Suda, E; Rotimi, CN; Adebamowo, CA; Ajayi, I; Aniagwu, T; Marshall, PA; Nkwodimmah, C; Royal, CDM; Leppert, MF; Dixon, M; Peiffer, A; Qiu, R; Kent, A; Kato, K; Niikawa, N; Adewole, IF; Knoppers, BM; Foster, MW; Clayton, EW; Watkin, J; Muzny, D; Nazareth, L; Sodergren, E; Weinstock, GM; Yakub, I; Birren, BW; Wilson, RK; Fulton, LL; Rogers, J; Burton, J; Carter, NP; Clee, CM; Griffiths, M; Jones, MC; McLay, K; Plumb, RW; Ross, MT; Sims, SK; Willey, DL; Chen, Z; Han, H; Kang, L; Godbout, M; Wallenburg, JC; L'Archevêque, P; Bellemare, G; Saeki, K; Wang, H; An, D; Fu, H; Li, Q; Wang, Z; Wang, R; Holden, AL; Brooks, LD; McEwen, JE; Guyer, MS; Wang, VO; Peterson, JL; Shi, M; Spiegel, J; Sung, LM; Zacharia, LF; Collins, FS; Kennedy, K; Jamieson, R; Stewart, J200711,103
 
Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar [5]
Journal:
Clinical Genetics
Publisher:
Blackwell Munksgaard. The Journal's web site is located at http://www.blackwellpublishing.com/journals/CGE
FaiyazUlHaque, M; Zaidi, SHE; AlMureikhi, MS; Peltekova, I; Tsui, LC; Teebi, AS2007173
 
Genome-wide detection and characterization of positive selection in human populations
Journal:
Nature
Publisher:
Nature Publishing Group. The Journal's web site is located at http://www.nature.com/nature
Sabeti, PC; Varilly, P; Fry, B; Lohmueller, J; Hostetter, E; Cotsapas, C; Xie, X; Byrne, EH; McCarroll, SA; Gaudet, R; Schaffner, SF; Lander, ES; Frazer, KA; Ballinger, DG; Cox, DR; Hinds, DA; Stuve, LL; Gibbs, RA; Belmont, JW; Boudreau, A; Hardenbol, P; Leal, SM; Pasternak, S; Wheeler, DA; Willis, TD; Yu, F; Yang, H; Zeng, C; Gao, Y; Hu, H; Hu, W; Li, C; Lin, W; Liu, S; Pan, H; Tang, X; Wang, J; Wang, W; Yu, J; Zhang, B; Zhang, Q; Zhao, H; Zhao, H; Zhou, J; Gabriel, SB; Barry, R; Blumenstiel, B; Camargo, A; Defelice, M; Faggart, M; Goyette, M; Gupta, S; Moore, J; Nguyen, H; Onofrio, RC; Parkin, M; Roy, J; Stahl, E; Winchester, E; Ziaugra, L; Altshuler, D; Shen, Y; Yao, Z; Huang, W; Chu, X; He, Y; Jin, L; Liu, Y; Shen, Y; Sun, W; Wang, H; Wang, Y; Wang, Y; Xiong, X; Xu, L; Waye, MMY; Tsui, SKW; Xue, H; Wong, JTF; Galver, LM; Fan, JB; Gunderson, K; Murray, SS; Oliphant, AR; Chee, MS; Montpetit, A; Chagnon, F; Ferretti, V; Leboeuf, M; Olivier, JF; Phillips, MS; Roumy, S; Sallée, C; Verner, A; Hudson, TJ; Kwok, PY; Cai, D; Koboldt, DC; Miller, RD; Pawlikowska, L; TaillonMiller, P; Xiao, M; Tsui, LC; Mak, W; You, QS; Tam, PKH; Nakamura, Y; Kawaguchi, T; Kitamoto, T; Morizono, T; Nagashima, A; Ohnishi, Y; Sekine, A; Tanaka, T; Tsunoda, T; Deloukas, P; Bird, CP; Delgado, M; Dermitzakis, ET; Gwilliam, R; Hunt, S; Morrison, J; Powell, D; Stranger, BE; Whittaker, P; Bentley, DR; Daly, MJ; De Bakker, PIW; Barrett, J; Chretien, YR; Maller, J; McCarroll, S; Patterson, N; Pe'Er, I; Price, A; Purcell, S; Richter, DJ; Saxena, R; Sham, PC; Stein, LD; Krishnan, L; Smith, AV; TelloRuiz, MK; Thorisson, GA; Chakravarti, A; Chen, PE; Cutler, DJ; Kashuk, CS; Lin, S; Abecasis, GR; Guan, W; Li, Y; Munro, HM; Qin, ZS; Thomas, DJ; McVean, G; Auton, A; Bottolo, L; Cardin, N; Eyheramendy, S; Freeman, C; Marchini, J; Myers, S; Spencer, C; Stephens, M; Donnelly, P; Cardon, LR; Clarke, G; Evans, DM; Morris, AP; Weir, BS; Johnson, TA; Mullikin, JC; Sherry, ST; Feolo, M; Skol, A; Zhang, H; Matsuda, I; Fukushima, Y; MacEr, DR; Suda, E; Rotimi, CN; Adebamowo, CA; Ajayi, I; Aniagwu, T; Marshall, PA; Nkwodimmah, C; Royal, CDM; Leppert, MF; Dixon, M; Peiffer, A; Qiu, R; Kent, A; Kato, K; Niikawa, N; Adewole, IF; Knoppers, BM; Foster, MW; Clayton, EW; Watkin, J; Muzny, D; Nazareth, L; Sodergren, E; Weinstock, GM; Yakub, I; Birren, BW; Wilson, RK; Fulton, LL; Rogers, J; Burton, J; Carter, NP; Clee, CM; Griffiths, M; Jones, MC; McLay, K; Plumb, RW; Ross, MT; Sims, SK; Willey, DL; Chen, Z; Han, H; Kang, L; Godbout, M; Wallenburg, JC; L'Archevêque, P; Bellemare, G; Saeki, K; Wang, H; An, D; Fu, H; Li, Q; Wang, Z; Wang, R; Holden, AL; Brooks, LD; McEwen, JE; Guyer, MS; Wang, VO; Peterson, JL; Shi, M; Spiegel, J; Sung, LM; Zacharia, LF; Collins, FS; Kennedy, K; Jamieson, R; Stewart, J2007882
 
Pyruvate ameliorates the defect in ureogenesis from ammonia in citrin-deficient mice
Journal:
Journal of Hepatology
Publisher:
Elsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/jhep
Moriyama, M; Li, MX; Kobayashi, K; Sinasac, DS; Kannan, Y; Iijima, M; Horiuchi, M; Tsui, LC; Tanaka, M; Nakamura, Y; Saheki, T2006193
 
Cystic fibrosis geneTsui, LC; Riordan John R; Collins Francis S; Rommens Johanna M; Iannuzzi Michael C; Kerem Bat-Sheva; Drumm Mitchell L; Buchwald Manuel2006153
 
Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials
Journal:
American Journal of Respiratory and Critical Care Medicine
Publisher:
American Thoracic Society. The Journal's web site is located at http://ajrccm.atsjournals.org
Wilschanski, M; Dupuis, A; Ellis, L; Jarvi, K; Zielenski, J; Tullis, E; Martin, S; Corey, M; Tsui, LC; Durie, P20061,489
 
A family exhibiting arterial tortuosity syndrome displays homozygosity for markers in the arterial tortuosity locus at chromosome 20q13
Journal:
Clinical Genetics
Publisher:
Blackwell Munksgaard. The Journal's web site is located at http://www.blackwellpublishing.com/journals/CGE
Zaidi, SHE; Peltekova, V; Meyer, S; Lindinger, A; Paterson, AD; Tsui, LC; FaiyazUlHaque, M; Teebi, AS2005618
 
High-resolution FISH analysis.
Journal:
Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.]
Publisher:
John Wiley & Sons, Inc. The Journal's web site is located at http://www.does.org/masterli/cphg.html
Heng, HH; Windle, B; Tsui, LC2005129
 
The cystic fibrosis transmembrane conductance regulator gene and ion channel function in patients with idiopathic pancreatitis
Journal:
Human Genetics
Publisher:
Springer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00439/index.htm
Bishop, MD; Freedman, SD; Zielenski, J; Ahmed, N; Dupuis, A; Martin, S; Ellis, L; Shea, J; Hopper, I; Corey, M; Kortan, P; Haber, G; Ross, C; Tzountzouris, J; Steele, L; Ray, PN; Tsui, LC; Durie, PR2005935
 
Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency
Journal:
Journal of Human Genetics
Publisher:
Springer Japan. The Journal's web site is located at http://link.springer.de/link/service/journals/10038/index.htm
Lu, YB; Kobayashi, K; Ushikai, M; Tabata, A; Iijima, M; Li, MX; Lei, L; Kawabe, K; Taura, S; Yang, Y; Liu, TT; Chiang, SH; Hsiao, KJ; Lau, YL; Tsui, LC; Lee, DH; Saheki, T2005867
 
Page 1 of 20  Next >
Export Records
Step 1: Select content and export format
  • Citation only
Step 2: Select export method
  • Download