Lee CC - Search Results

1

Mutation analysis of type II Gaucher disease in five Taiwanese children: identification of two novel mutations.

Tsai FJ, Lee CC, Wu MC, Lin SP, Lin CY, Tsai CH, Kodama H, Wu JY. Tsai FJ, et al. Among authors: lee cc. Acta Paediatr Taiwan. 2001 Jul-Aug;42(4):231-5. Acta Paediatr Taiwan. 2001. PMID: 11550412

2

Mutation analysis of Wilson disease in Taiwan and description of six new mutations.

Tsai CH, Tsai FJ, Wu JY, Chang JG, Lee CC, Lin SP, Yang CF, Jong YJ, Lo MC. Tsai CH, et al. Among authors: lee cc. Hum Mutat. 1998;12(6):370-6. doi: 10.1002/(SICI)1098-1004(1998)12:6<370::AID-HUMU2>3.0.CO;2-S. Hum Mutat. 1998. PMID: 9829905

3

Rapid diagnosis of common aneuploidies by quantitative fluorescent polymerase chain reaction.

Yang CF, Tsai FJ, Wu JY, Shi YR, Lee CC, Tsai CH. Yang CF, et al. Among authors: lee cc. Acta Paediatr Taiwan. 1999 Sep-Oct;40(5):330-4. Acta Paediatr Taiwan. 1999. PMID: 10910543

4

Molecular diagnosis of Apert syndrome in Chinese patients.

Tsai FJ, Tsai CH, Peng CT, Lin SP, Hwu WL, Wang TR, Lee CC, Wu JY. Tsai FJ, et al. Among authors: lee cc. Acta Paediatr Taiwan. 1999 Jan-Feb;40(1):31-3. Acta Paediatr Taiwan. 1999. PMID: 10910582

5

An R248C mutation of FGFR3 leading to thanatophoric dysplasia type I.

Tsai FJ, Tsai LP, Lin SP, Tsai CH, Peng CT, Wang TR, Lee CC, Wu JY. Tsai FJ, et al. Among authors: lee cc. Acta Paediatr Taiwan. 1999 Jul-Aug;40(4):262-4. Acta Paediatr Taiwan. 1999. PMID: 10910625

6

A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) causes non-syndromic craniosynostosis.

Tsai FJ, Wu JY, Lee CC, Tsa CH. Tsai FJ, et al. Among authors: lee cc. Acta Paediatr. 2000 Jun;89(6):672-4. doi: 10.1080/080352500750043972. Acta Paediatr. 2000. PMID: 10914960

7

Carrier detection of Duchenne/Becker muscular dystrophy by using fluorescent linkage analysis in Taiwan.

Lee CC, Wu MC, Wu JY, Li TC, Tsai FJ, Tsai CH. Lee CC, et al. Acta Paediatr Taiwan. 2000 Mar-Apr;41(2):69-74. Acta Paediatr Taiwan. 2000. PMID: 10927942

8

Identification of a novel three-nucleotide insertion mutation (c.841-842insTGA) in the acid beta-glucosidase gene of a Taiwan Chinese patient with type II Gaucher disease.

Wu JY, Wu MC, Lee CC, Tsai FJ. Wu JY, et al. Among authors: lee cc. Hum Mutat. 2001 Mar;17(3):238. doi: 10.1002/humu.14. Hum Mutat. 2001. PMID: 11241851 No abstract available.

9

Mutation analysis of Crouzon syndrome and identification of one novel mutation in Taiwanese patients.

Tsai FJ, Yang CF, Wu JY, Tsai CH, Lee CC. Tsai FJ, et al. Among authors: lee cc. Pediatr Int. 2001 Jun;43(3):263-6. doi: 10.1046/j.1442-200x.2001.01392.x. Pediatr Int. 2001. PMID: 11380921

10

Mutation analysis of a family with hereditary hemorrhagic telangiectasia associated with hepatic arteriovenous malformation.

Lin WD, Wu JY, Hsu HB, Tsai FJ, Lee CC, Tsai CH. Lin WD, et al. Among authors: lee cc. J Formos Med Assoc. 2001 Dec;100(12):817-9. J Formos Med Assoc. 2001. PMID: 11802521

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