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Items: 1 to 50 of 323

1.

The cystic fibrosis gene: a molecular genetic perspective.

Tsui LC, Dorfman R.

Cold Spring Harb Perspect Med. 2013 Feb 1;3(2):a009472. doi: 10.1101/cshperspect.a009472. Review.

2.

Arrhythmia and sudden death associated with elevated cardiac chloride channel activity.

Ye L, Zhu W, Backx PH, Cortez MA, Wu J, Chow YH, McKerlie C, Wang A, Tsui LC, Gross GJ, Hu J.

J Cell Mol Med. 2011 Nov;15(11):2307-16. doi: 10.1111/j.1582-4934.2010.01243.x.

3.

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 LC, Zielenski J, Durie P.

Clin Genet. 2010 May;77(5):464-73. doi: 10.1111/j.1399-0004.2009.01351.x. Epub 2009 Jan 6.

PMID:
20059485
4.

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, 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 LJ.

Hum Genet. 2009 Dec;126(6):763-78. doi: 10.1007/s00439-009-0724-8.

5.

A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome.

Faiyaz-Ul-Haque M, Zaidi SH, Al-Sanna N, Alswaid A, Momenah T, Kaya N, Al-Dayel F, Bouhoaigah I, Saliem M, Tsui LC, Teebi AS.

Atherosclerosis. 2009 Apr;203(2):466-71. doi: 10.1016/j.atherosclerosis.2008.07.026. Epub 2008 Aug 5.

PMID:
18774132
6.

Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families.

Faiyaz-Ul-Haque M, Zaidi SH, Wahab AA, Eltohami A, Al-Mureikhi MS, Al-Thani G, Peltekova VD, Tsui LC, Teebi AS.

Clin Genet. 2008 Aug;74(2):189-93. doi: 10.1111/j.1399-0004.2008.01049.x. Epub 2008 Jun 28. No abstract available.

PMID:
18565096
7.

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 LC, Parkinson J, Frey BJ, Rommens JM, Blencowe BJ.

Genome Res. 2008 Aug;18(8):1247-58. doi: 10.1101/gr.073155.107. Epub 2008 May 2.

8.

High-resolution FISH analysis.

Heng HH, Windle B, Tsui LC.

Curr Protoc Hum Genet. 2005 Feb;Chapter 4:Unit 4.5. doi: 10.1002/0471142905.hg0405s44.

PMID:
18428380
9.

Nonsteroidal anti-inflammatory drugs upregulate function of wild-type and mutant CFTR.

Li J, Xiang YY, Ye L, Tsui LC, Macdonald JF, Hu J, Lu WY.

Eur Respir J. 2008 Aug;32(2):334-43. doi: 10.1183/09031936.00168007. Epub 2008 Apr 2.

10.

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, Tsui LC, Paré PD, Durie P, Corey M, Zielenski J.

J Clin Invest. 2008 Mar;118(3):1040-9. doi: 10.1172/JCI33754.

11.

Genome-wide detection and characterization of positive selection in human populations.

Sabeti PC, Varilly P, Fry B, Lohmueller J, Hostetter E, Cotsapas C, Xie X, Byrne EH, McCarroll SA, Gaudet R, Schaffner SF, Lander ES; International HapMap Consortium, 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 MM, Tsui SK, Xue H, Wong JT, 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, Taillon-Miller P, Xiao M, Tsui LC, Mak W, Song YQ, Tam PK, 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 PI, 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, Altshuler D, Stein LD, Krishnan L, Smith AV, Tello-Ruiz 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, Tsunoda T, Johnson TA, Mullikin JC, Sherry ST, Feolo M, Skol A, Zhang H, Zeng C, Zhao H, Matsuda I, Fukushima Y, Macer DR, Suda E, Rotimi CN, Adebamowo CA, Ajayi I, Aniagwu T, Marshall PA, Nkwodimmah C, Royal CD, Leppert MF, Dixon M, Peiffer A, Qiu R, Kent A, Kato K, Niikawa N, Adewole IF, Knoppers BM, Foster MW, Clayton EW, Watkin J, Gibbs RA, Belmont JW, Muzny D, Nazareth L, Sodergren E, Weinstock GM, Wheeler DA, Yakub I, Gabriel SB, Onofrio RC, Richter DJ, Ziaugra L, Birren BW, Daly MJ, Altshuler D, 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 J.

Nature. 2007 Oct 18;449(7164):913-8.

12.

A second generation human haplotype map of over 3.1 million SNPs.

International HapMap Consortium, 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 MM, Tsui SK, Xue H, Wong JT, 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, Taillon-Miller P, Xiao M, Tsui LC, Mak W, Song YQ, Tam PK, 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 PI, 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, Altshuler D, Stein LD, Krishnan L, Smith AV, Tello-Ruiz 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, Tsunoda T, Mullikin JC, Sherry ST, Feolo M, Skol A, Zhang H, Zeng C, Zhao H, Matsuda I, Fukushima Y, Macer DR, Suda E, Rotimi CN, Adebamowo CA, Ajayi I, Aniagwu T, Marshall PA, Nkwodimmah C, Royal CD, Leppert MF, Dixon M, Peiffer A, Qiu R, Kent A, Kato K, Niikawa N, Adewole IF, Knoppers BM, Foster MW, Clayton EW, Watkin J, Gibbs RA, Belmont JW, Muzny D, Nazareth L, Sodergren E, Weinstock GM, Wheeler DA, Yakub I, Gabriel SB, Onofrio RC, Richter DJ, Ziaugra L, Birren BW, Daly MJ, Altshuler D, 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 J.

Nature. 2007 Oct 18;449(7164):851-61.

13.

Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar.

Faiyaz-Ul-Haque M, Zaidi SH, Al-Mureikhi MS, Peltekova I, Tsui LC, Teebi AS.

Clin Genet. 2007 Aug;72(2):164-6. No abstract available.

PMID:
17661825
14.

Citrin/mitochondrial glycerol-3-phosphate dehydrogenase double knock-out mice recapitulate features of human citrin deficiency.

Saheki T, Iijima M, Li MX, Kobayashi K, Horiuchi M, Ushikai M, Okumura F, Meng XJ, Inoue I, Tajima A, Moriyama M, Eto K, Kadowaki T, Sinasac DS, Tsui LC, Tsuji M, Okano A, Kobayashi T.

J Biol Chem. 2007 Aug 24;282(34):25041-52. Epub 2007 Jun 25.

15.
16.

Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials.

Wilschanski M, Dupuis A, Ellis L, Jarvi K, Zielenski J, Tullis E, Martin S, Corey M, Tsui LC, Durie P.

Am J Respir Crit Care Med. 2006 Oct 1;174(7):787-94. Epub 2006 Jul 13.

17.

Pyruvate ameliorates the defect in ureogenesis from ammonia in citrin-deficient mice.

Moriyama M, Li MX, Kobayashi K, Sinasac DS, Kannan Y, Iijima M, Horiuchi M, Tsui LC, Tanaka M, Nakamura Y, Saheki T.

J Hepatol. 2006 May;44(5):930-8. Epub 2005 Nov 8.

PMID:
16458993
18.

The cystic fibrosis transmembrane conductance regulator gene and ion channel function in patients with idiopathic pancreatitis.

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 PR.

Hum Genet. 2005 Dec;118(3-4):372-81. Epub 2005 Sep 29.

PMID:
16193325
19.

Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency.

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 T.

J Hum Genet. 2005;50(7):338-346. doi: 10.1007/s10038-005-0262-8. Epub 2005 Jul 30.

PMID:
16059747
20.

The prevalence and clinical characteristics of cystic fibrosis in South Asian Canadian immigrants.

Mei-Zahav M, Durie P, Zielenski J, Solomon M, Tullis E, Tsui LC, Corey M.

Arch Dis Child. 2005 Jul;90(7):675-9.

21.

A family exhibiting arterial tortuosity syndrome displays homozygosity for markers in the arterial tortuosity locus at chromosome 20q13.

Zaidi SH, Peltekova V, Meyer S, Lindinger A, Paterson AD, Tsui LC, Faiyaz-Ul-Haque M, Teebi AS.

Clin Genet. 2005 Feb;67(2):183-8.

PMID:
15679832
22.

A novel locus of ectodermal dysplasia maps to chromosome 10q24.32-q25.1.

Rafiq MA, Faiyaz-Ul-Haque M, Ud Din MA, Malik S, Sohail M, Anwar M, Haque S, Paterson AD, Tsui LC, Ahmad W.

J Invest Dermatol. 2005 Feb;124(2):338-42.

23.

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 SH, King LM, Haque S, Patel M, Ahmad M, Siddique T, Ahmad W, Tsui LC, Cohn DH.

Clin Genet. 2005 Jan;67(1):93-7.

PMID:
15617554
24.

Altered expression and deletion of RMO1 in osteosarcoma.

Eppert K, Wunder JS, Aneliunas V, Tsui LC, Scherer SW, Andrulis IL.

Int J Cancer. 2005 May 1;114(5):738-46.

25.

Novel mutations in the EXT1 gene in two consanguineous families affected with multiple hereditary exostoses (familial osteochondromatosis).

Faiyaz-Ul-Haque M, Ahmad W, Zaidi SH, Hussain S, Haque S, Ahmad M, Cohn DH, Tsui LC.

Clin Genet. 2004 Aug;66(2):144-51.

PMID:
15253765
26.

A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type.

Faiyaz-Ul-Haque M, Zaidi SH, Al-Ali M, Al-Mureikhi MS, Kennedy S, Al-Thani G, Tsui LC, Teebi AS.

Am J Med Genet A. 2004 Jul 1;128A(1):39-45.

PMID:
15211654
27.

The locus responsible for horizontal gaze palsy/progressive scoliosis and brainstem hypoplasia is refined to a 9-cM region on chromosome 11q23.

Lo B, Faiyaz-Ul-Haque M, Banwell B, Blaser S, Paterson AD, Tsui LC, Teebi AS.

Clin Genet. 2004 Feb;65(2):137-42.

PMID:
14984473
28.

Cystic fibrosis in Uruguay.

Luzardo G, Aznarez I, Crispino B, Mimbacas A, Martínez L, Poggio R, Zielenski J, Tsui LC, Cardoso H.

Genet Mol Res. 2002 Mar 31;1(1):32-8.

29.

Characterization of the segmental duplication LCR7-20 in the human genome.

Liu X, Li X, Li M, Acimovic YJ, Li Z, Scherer SW, Estivill X, Tsui LC.

Genomics. 2004 Feb;83(2):262-9.

PMID:
14706455
30.

Slc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemia.

Sinasac DS, Moriyama M, Jalil MA, Begum L, Li MX, Iijima M, Horiuchi M, Robinson BH, Kobayashi K, Saheki T, Tsui LC.

Mol Cell Biol. 2004 Jan;24(2):527-36.

31.

Transcriptional activation of immediate-early gene ETR101 by human T-cell leukaemia virus type I Tax.

Chen L, Ma S, Li B, Fink T, Zachar V, Takahashi M, Cuttichia J, Tsui LC, Ebbesen P, Liu X.

J Gen Virol. 2003 Dec;84(Pt 12):3203-3214. doi: 10.1099/vir.0.19283-0.

PMID:
14645902
33.

SARS genome patent: to manage and to share.

Tsui LC.

Lancet. 2003 Aug 2;362(9381):406. No abstract available.

PMID:
12907024
34.

Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubism.

Lo B, Faiyaz-Ul-Haque M, Kennedy S, Aviv R, Tsui LC, Teebi AS.

Am J Med Genet A. 2003 Aug 15;121A(1):37-40.

PMID:
12900899
35.

Molecular consequences of cystic fibrosis transmembrane regulator (CFTR) gene mutations in the exocrine pancreas.

Ahmed N, Corey M, Forstner G, Zielenski J, Tsui LC, Ellis L, Tullis E, Durie P.

Gut. 2003 Aug;52(8):1159-64.

36.

Increased prevalence of CFTR mutations and variants and decreased chloride secretion in primary sclerosing cholangitis.

Sheth S, Shea JC, Bishop MD, Chopra S, Regan MM, Malmberg E, Walker C, Ricci R, Tsui LC, Durie PR, Zielenski J, Freedman SD.

Hum Genet. 2003 Aug;113(3):286-92. Epub 2003 Jun 3.

PMID:
12783301
37.

Identification of a novel lipase gene mutated in lpd mice with hypertriglyceridemia and associated with dyslipidemia in humans.

Wen XY, Hegele RA, Wang J, Wang DY, Cheung J, Wilson M, Yahyapour M, Bai Y, Zhuang L, Skaug J, Young TK, Connelly PW, Koop BF, Tsui LC, Stewart AK.

Hum Mol Genet. 2003 May 15;12(10):1131-43.

PMID:
12719377
38.

Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence.

Cheung J, Estivill X, Khaja R, MacDonald JR, Lau K, Tsui LC, Scherer SW.

Genome Biol. 2003;4(4):R25. Epub 2003 Mar 17.

39.

Human chromosome 7: DNA sequence and biology.

Scherer SW, Cheung J, MacDonald JR, Osborne LR, Nakabayashi K, Herbrick JA, Carson AR, Parker-Katiraee L, Skaug J, Khaja R, Zhang J, Hudek AK, Li M, Haddad M, Duggan GE, Fernandez BA, Kanematsu E, Gentles S, Christopoulos CC, Choufani S, Kwasnicka D, Zheng XH, Lai Z, Nusskern D, Zhang Q, Gu Z, Lu F, Zeesman S, Nowaczyk MJ, Teshima I, Chitayat D, Shuman C, Weksberg R, Zackai EH, Grebe TA, Cox SR, Kirkpatrick SJ, Rahman N, Friedman JM, Heng HH, Pelicci PG, Lo-Coco F, Belloni E, Shaffer LG, Pober B, Morton CC, Gusella JF, Bruns GA, Korf BR, Quade BJ, Ligon AH, Ferguson H, Higgins AW, Leach NT, Herrick SR, Lemyre E, Farra CG, Kim HG, Summers AM, Gripp KW, Roberts W, Szatmari P, Winsor EJ, Grzeschik KH, Teebi A, Minassian BA, Kere J, Armengol L, Pujana MA, Estivill X, Wilson MD, Koop BF, Tosi S, Moore GE, Boright AP, Zlotorynski E, Kerem B, Kroisel PM, Petek E, Oscier DG, Mould SJ, Döhner H, Döhner K, Rommens JM, Vincent JB, Venter JC, Li PW, Mural RJ, Adams MD, Tsui LC.

Science. 2003 May 2;300(5620):767-72. Epub 2003 Apr 10.

40.

Glucose intolerance in children with cystic fibrosis.

Solomon MP, Wilson DC, Corey M, Kalnins D, Zielenski J, Tsui LC, Pencharz P, Durie P, Sweezey NB.

J Pediatr. 2003 Feb;142(2):128-32.

PMID:
12584532
41.

Mapping of genetic factors influencing the weight of cystic fibrosis knockout mice.

Haston CK, Corey M, Tsui LC.

Mamm Genome. 2002 Nov;13(11):614-8.

PMID:
12461646
42.

Detection of modifier loci influencing the lung phenotype of cystic fibrosis knockout mice.

Haston CK, McKerlie C, Newbigging S, Corey M, Rozmahel R, Tsui LC.

Mamm Genome. 2002 Nov;13(11):605-13.

PMID:
12461645
43.

Genotype and phenotype correlations in patients with cystic fibrosis and pancreatitis.

Durno C, Corey M, Zielenski J, Tullis E, Tsui LC, Durie P.

Gastroenterology. 2002 Dec;123(6):1857-64.

PMID:
12454843
44.

Loci of intestinal distress in cystic fibrosis knockout mice.

Haston CK, Tsui LC.

Physiol Genomics. 2003 Jan 15;12(2):79-84.

PMID:
12441405
45.

Chromosomal regions containing high-density and ambiguously mapped putative single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genome.

Estivill X, Cheung J, Pujana MA, Nakabayashi K, Scherer SW, Tsui LC.

Hum Mol Genet. 2002 Aug 15;11(17):1987-95.

PMID:
12165560
46.

Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasia.

Faiyaz-Ul-Haque M, Ahmad W, Wahab A, Haque S, Azim AC, Zaidi SH, Teebi AS, Ahmad M, Cohn DH, Siddique T, Tsui LC.

Am J Med Genet. 2002 Jul 22;111(1):31-7. Review.

PMID:
12124730
47.

Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome).

Faiyaz-Ul-Haque M, Ahmad W, Zaidi SH, Haque S, Teebi AS, Ahmad M, Cohn DH, Tsui LC.

Clin Genet. 2002 Jun;61(6):454-8.

PMID:
12121354
48.

Circling, deafness, and yellow coat displayed by yellow submarine (ysb) and light coat and circling (lcc) mice with mutations on chromosome 3.

Dong S, Leung KK, Pelling AL, Lee PY, Tang AS, Heng HH, Tsui LC, Tease C, Fisher G, Steel KP, Cheah KS.

Genomics. 2002 Jun;79(6):777-84.

PMID:
12036291
49.

Complete screening of the CFTR gene in Argentine cystic fibrosis patients.

Visich A, Zielenski J, Castaños C, Diez G, Grenoville M, Segal E, Barreiro C, Tsui LC, Chertkoff L.

Clin Genet. 2002 Mar;61(3):207-13. Erratum in: Clin Genet. 2002 Oct;62(4):343.

PMID:
12000363
50.

Refinement of the genomic structure of STX1A and mutation analysis in nondeletion Williams syndrome patients.

Wu YQ, Bejjani BA, Tsui LC, Mandel A, Osborne LR, Shaffer LG.

Am J Med Genet. 2002 Apr 22;109(2):121-4.

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