SCOPUS 정보 검색 플랫폼

Volumn 36, Issue 2, 2003, Pages 151-153

Improved diagnosis of a common mutation (R248C) in the human growth factor receptor 3 (FGFR3) gene that causes type I Thanatophoric dysplasia

(4) Simsek, Mehmet a Al Gazali, Lihadh b Al Mjeni, Reyhanah a Bayoumi, Riad a

a SULTAN QABOOS UNIVERSITY (Oman)

b UNITED ARAB EMIRATES UNIVERSITY (United Arab Emirates)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CYSTEINE; GENOMIC DNA; GROWTH FACTOR RECEPTOR; PROTEIN TYROSINE KINASE; RECEPTOR SUBTYPE;

ARTICLE; CLINICAL FEATURE; COST CONTROL; DIAGNOSTIC PROCEDURE; GENE; GENE AMPLIFICATION; GENE MUTATION; GROWTH FACTOR RECEPTOR 3 GENE; HUMAN; LETHALITY; MUTATIONAL ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN DOMAIN; THANATOPHORIC DWARFISM;

EID: 0037337470 PISSN: 00099120 EISSN: None Source Type: Journal
DOI: 10.1016/S0009-9120(02)00441-1 Document Type: Article

Times cited : (6)

References (7)

1
- 0022493547
- The birth prevalence rates for the skeletal dysplasia
- Orioli I., Castilla E., Barbosa-Neto J. The birth prevalence rates for the skeletal dysplasia. J Med Genet. 23:1986;328-332.
- (1986) J Med Genet , vol.23 , pp. 328-332
- Orioli, I.¹ Castilla, E.² Barbosa-Neto, J.³

2
- 0014822293
- Thanatophoric dwarfism
- Kaufman R., Rimoin D., McAlister W., Kissane J. Thanatophoric dwarfism. Am J Dis Child. 120:1970;53-57.
- (1970) Am J Dis Child , vol.120 , pp. 53-57
- Kaufman, R.¹ Rimoin, D.² McAlister, W.³ Kissane, J.⁴

3
- 0030485182
- Common mutations in the gene encoding fibroblast growth factor receptor 3 account for achondroplasia, hypochondroplasia, and thanatophoric dysplasia
- Bonaventure J., Rousseau F., Legeai-Mallet L., Le Merrer M., Munnich A., Maroteaux P. Common mutations in the gene encoding fibroblast growth factor receptor 3 account for achondroplasia, hypochondroplasia, and thanatophoric dysplasia. Acta Paediatr Suppl. 417:1996;33-38.
- (1996) Acta Paediatr Suppl , vol.417 , pp. 33-38
- Bonaventure, J.¹ Rousseau, F.² Legeai-Mallet, L.³ Le Merrer, M.⁴ Munnich, A.⁵ Maroteaux, P.⁶

4
- 0035099946
- Prenatal diagnosis and genetic analysis of type I and type II Thanatophoric dysplasia
- Chen C.P., Chern S.R., Shih J.C., Wang W., Yeh L.F., Chaang T.Y., Tzen C.Y. Prenatal diagnosis and genetic analysis of type I and type II Thanatophoric dysplasia. Prenat Diagn. 21:(2):2001;89-95.
- (2001) Prenat Diagn , vol.21 , Issue.2 , pp. 89-95
- Chen, C.P.¹ Chern, S.R.² Shih, J.C.³ Wang, W.⁴ Yeh, L.F.⁵ Chaang, T.Y.⁶ Tzen, C.Y.⁷

5
- 0028872752
- Thanatophoric dysplasia (type I and II) caused by distinct mutations in fibroblast growth factor receptor 3
- Tavormina P.L., Shiang R., Thompson L.M., Zhu Y.Z., Wilkin D.J., Lachman R.S., Wilcox W.R., Rimoin D.L., Cohn D.H., Wasmuth J.J. Thanatophoric dysplasia (type I and II) caused by distinct mutations in fibroblast growth factor receptor 3. Nature Genet. 9:1995;321-328.
- (1995) Nature Genet , vol.9 , pp. 321-328
- Tavormina, P.L.¹ Shiang, R.² Thompson, L.M.³ Zhu, Y.Z.⁴ Wilkin, D.J.⁵ Lachman, R.S.⁶ Wilcox, W.R.⁷ Rimoin, D.L.⁸ Cohn, D.H.⁹ Wasmuth, J.J.¹⁰

6
- 0032900368
- Prenatal diagnosis of Thanatophoric dysplasia by mutational analysis of the fibroblast growth factor receptor 3 gene and a proposed correction of previously published PCR results
- Sawai H., Komori S., Ida A., Henmi T., Bessho T., Koyama K. Prenatal diagnosis of Thanatophoric dysplasia by mutational analysis of the fibroblast growth factor receptor 3 gene and a proposed correction of previously published PCR results. Prenat Diagn. 19:1999;21-24.
- (1999) Prenat Diagn , vol.19 , pp. 21-24
- Sawai, H.¹ Komori, S.² Ida, A.³ Henmi, T.⁴ Bessho, T.⁵ Koyama, K.⁶

7
- 0004166837
- Springer
- Newton CR, Graham A. In "PCR", 2nd edition, page 22, Springer 1997.
- (1997) "PCR", 2nd edition , pp. 22
- Newton, C.R.¹ Graham, A.²

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.