Tsui LC - Search Results

1

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. Zaidi SH, et al. Among authors: tsui lc. Clin Genet. 2005 Feb;67(2):183-8. doi: 10.1111/j.1399-0004.2004.00391.x. Clin Genet. 2005. PMID: 15679832

2

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. Faiyaz-Ul-Haque M, et al. Among authors: tsui lc. Clin Genet. 2002 Jun;61(6):454-8. doi: 10.1034/j.1399-0004.2002.610610.x. Clin Genet. 2002. PMID: 12121354

3

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. Lo B, et al. Among authors: tsui lc. Clin Genet. 2004 Feb;65(2):137-42. doi: 10.1111/j.0009-9163.2004.00201.x. Clin Genet. 2004. PMID: 14984473

4

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. Faiyaz-Ul-Haque M, et al. Among authors: tsui lc. Clin Genet. 2004 Aug;66(2):144-51. doi: 10.1111/j.1399-0004.2004.00275.x. Clin Genet. 2004. PMID: 15253765

5

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. Faiyaz-Ul-Haque M, et al. Among authors: tsui lc. Clin Genet. 2005 Jan;67(1):93-7. doi: 10.1111/j.1399-0004.2004.00369.x. Clin Genet. 2005. PMID: 15617554

6

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. Lo B, et al. Among authors: tsui lc. Am J Med Genet A. 2003 Aug 15;121A(1):37-40. doi: 10.1002/ajmg.a.20226. Am J Med Genet A. 2003. PMID: 12900899

7

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. Faiyaz-Ul-Haque M, et al. Among authors: tsui lc. Clin Genet. 2007 Aug;72(2):164-6. doi: 10.1111/j.1399-0004.2007.00846.x. Clin Genet. 2007. PMID: 17661825 No abstract available.

8

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. Faiyaz-Ul-Haque M, et al. Among authors: tsui lc. Clin Genet. 2008 Aug;74(2):189-93. doi: 10.1111/j.1399-0004.2008.01049.x. Epub 2008 Jun 28. Clin Genet. 2008. PMID: 18565096 No abstract available.

9

Genetic markers on chromosome 7.

Tsui LC. Tsui LC. J Med Genet. 1988 May;25(5):294-306. doi: 10.1136/jmg.25.5.294. J Med Genet. 1988. PMID: 3290488 Free PMC article. Review.

10

Skipping of exon 12 as a consequence of a point mutation (1898 + 5G-->T) in the cystic fibrosis transmembrane conductance regulator gene found in a consanguineous Chinese family.

Zielenski J, Markiewicz D, Lin SP, Huang FY, Yang-Feng TL, Tsui LC. Zielenski J, et al. Among authors: tsui lc. Clin Genet. 1995 Mar;47(3):125-32. doi: 10.1111/j.1399-0004.1995.tb03944.x. Clin Genet. 1995. PMID: 7543385

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