Tsai FJ - Search Results

1

Identification of a novel missense mutation (T16A) in the glucose-6-phosphatase gene in a Taiwan Chinese patient with glycogen storage disease Ia (Von Gierke disease).

Wu MC, Tsai FJ, Le CC, Lin SP, Wu JY. Wu MC, et al. Among authors: tsai fj. Hum Mutat. 2000 Apr;15(4):390. doi: 10.1002/(SICI)1098-1004(200004)15:4<390::AID-HUMU32>3.0.CO;2-N. Hum Mutat. 2000. PMID: 10738005 No abstract available.

2

Two common mutations 934C to G and 937C to G of fibroblast growth factor receptor 2 (FGFR2) gene in Chinese patients with Apert syndrome.

Tsai FJ, Hwu WL, Lin SP, Chang JG, Wang TR, Tsai CH. Tsai FJ, et al. Among authors: tsai ch. Hum Mutat. 1998;Suppl 1:S18-9. doi: 10.1002/humu.1380110106. Hum Mutat. 1998. PMID: 9452027 No abstract available.

3

Prenatal diagnosis of Apert syndrome.

Chang CC, Tsai FJ, Tsai HD, Tsai CH, Hseih YY, Lee CC, Yang TC, Wu JY. Chang CC, et al. Among authors: tsai hd, tsai ch, tsai fj. Prenat Diagn. 1998 Jun;18(6):621-5. Prenat Diagn. 1998. PMID: 9664610

4

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: tsai fj. 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

5

Molecular diagnosis of patients with beta-thalassemia major in central Taiwan by amplified created restriction site analysis.

Peng CT, Wu JY, Tsai CH, Tsai FJ, Chang JG. Peng CT, et al. Among authors: tsai ch, tsai fj. J Hum Genet. 1998;43(4):237-41. doi: 10.1007/s100380050080. J Hum Genet. 1998. PMID: 9852674

6

Different race, different face: minor anomalies in Chinese newborn infants.

Tsai FJ, Tsai CH, Peng CT, Wu JY, Lien CH, Wang TR. Tsai FJ, et al. Among authors: tsai ch. Acta Paediatr. 1999 Mar;88(3):323-6. doi: 10.1080/08035259950170114. Acta Paediatr. 1999. PMID: 10229046

7

Identification of a common N540K mutation in 8/18 Taiwanese hypochondroplasia patients: further evidence for genetic heterogeneity.

Tsai FJ, Wu JY, Tsai CH, Chang JG. Tsai FJ, et al. Among authors: tsai ch. Clin Genet. 1999 Apr;55(4):279-80. doi: 10.1034/j.1399-0004.1999.550412.x. Clin Genet. 1999. PMID: 10361991 No abstract available.

8

Mutations in the fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia, hypochondroplasia, and thanatophoric dysplasia: Taiwanese data.

Tsai FJ, Tsai CH, Chang JG, Wu JY. Tsai FJ, et al. Among authors: tsai ch. Am J Med Genet. 1999 Sep 17;86(3):300-1. Am J Med Genet. 1999. PMID: 10482885 No abstract available.

9

Insertion/deletion mutations of type I oculocutaneous albinism in chinese patients from Taiwan.

Tsai CH, Tsai FJ, Wu JY, Lin SP, Chang JG, Yang CF, Lee CC. Tsai CH, et al. Among authors: tsai fj. Hum Mutat. 1999 Dec;14(6):542. doi: 10.1002/(SICI)1098-1004(199912)14:6<542::AID-HUMU14>3.0.CO;2-3. Hum Mutat. 1999. PMID: 10571953

10

A novel mutation (Q239R) identified in a Taiwan Chinese patient with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome).

Wu JY, Yang CF, Lee CC, Chang JG, Tsai FJ. Wu JY, et al. Among authors: tsai fj. Hum Mutat. 2000 Apr;15(4):389-90. doi: 10.1002/(SICI)1098-1004(200004)15:4<389::AID-HUMU31>3.0.CO;2-0. Hum Mutat. 2000. PMID: 10738004 No abstract available.

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