SCOPUS 정보 검색 플랫폼

Volumn 24, Issue 6, 1994, Pages 425-426

Clinical - molecular correlations in the skeletal dysplasias

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 1; COLLAGEN TYPE 2;

ARTICLE; BONE DYSPLASIA; CARTILAGE; COLLAGEN DEFECT; GENE MUTATION; HUMAN; MOLECULAR GENETICS; PRIORITY JOURNAL;

CHILD; CHROMOSOME MAPPING; COLLAGEN; HUMAN; MOLECULAR BIOLOGY; MUTATION; OSTEOCHONDRODYSPLASIAS; SUPPORT, U.S. GOV'T, P.H.S.;

EID: 0028046295 PISSN: 03010449 EISSN: 14321998 Source Type: Journal
DOI: 10.1007/BF02011909 Document Type: Article

Times cited : (12)

References (14)

1
- 0025061884
- Brittle bones-fragile molecules: disorders of collagen gene structure and expression
- (1990) Trends Genet , vol.6 , pp. 293
- Byers, P.H.¹

2
- 0025777221
- Osteogenesis imperfecta: translation of mutation to phenotype
- (1991) J Med Genet , vol.28 , pp. 433
- Byers, P.H.¹ Wallis, G.A.² Willing, M.C.³

3
- 0024312169
- Type II collagen defects in the chondrodysplasias. I. Spondyloepiphyseal dysplasias
- (1989) Am J Med Genet , vol.45 , pp. 5
- Murray, L.W.¹ Bautista, J.² James, P.L.³ Rimoin, D.L.⁴

4
- 0026000341
- Stop codon in the gene for type II procollagen (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy)
- (1991) Proc Natl Acad Sci USA , vol.88 , pp. 6624
- Ahmad, N.N.¹ Ala-Kokko, L.² Knowlton, R.G.³ Weaver, E.J.⁴ Jimenez, S.A.⁵ Maguire, J.I.⁶ Tasman, W.⁷ Prockop, D.J.⁸

5
- 0027404775
- A second mutation in the type II procollagen gene (COL2A1) causing the Stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon
- (1993) Am J Hum Genet , vol.52 , pp. 39
- Ahmad, N.N.¹ McDonald-McGin, D.M.² Zackai, E.H.³ Knowlton, R.G.⁴ LaRossa, D.⁵ Dimascio, J.⁶ Prockop, D.J.⁷

6
- 0025009766
- Single base mutation in the type II procollagen gene (COL2A1) as a cause of osteoarthritis associated with mild chondrodysplasia
- (1990) Proc Natl Acad Sci USA , vol.87 , pp. 6565
- Ala-Kokko, L.¹ Baldwin, C.T.² Moskowitz, R.W.³ Prockop, D.J.⁴

7
- 0026564317
- An amino acid substitution (gly⁸⁵³ → glu) in the collagen α1 (II) chain produces hypochondrogenesis
- (1992) J Biol Chem , vol.267 , pp. 2252
- Bogaert, R.¹ Tiller, G.E.² Weis, M.A.³ Gruber, H.E.⁴ Rimoin, D.L.⁵ Cohn, D.H.⁶ Eyre, D.R.⁷

8
- 0026587092
- Characterization of a type II collagen gene (COL2A1) mutation identified in cultured chondrocytes from human hypochondrogenesis
- (1992) Proc Natl Acad Sci USA , vol.89 , pp. 4583
- Horton, W.A.¹ Machado, M.A.² Ellard, J.³ Campbell, D.⁴ Bartley, J.⁵ Ramirez, F.⁶ Vitale, E.⁷ Lee, B.⁸

9
- 0024341253
- Identification of the molecular defect in a family with spondyloepiphyseal dysplasia
- (1989) Science , vol.244 , pp. 978
- Lee, B.¹ Vlssing, H.² Ramirez, F.³ Rogers, D.⁴ Rimoin, D.L.⁵

10
- 0025302202
- Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia
- (1990) Proc Natl Acad Sci USA , vol.87 , pp. 3889
- Tiller, G.E.¹ Rimoin, D.L.² Murray, L.W.³ Cohn, D.H.⁴

11
- 0027266875
- A mutation in the amino-terminal end of the triple helix of type II collagen causing severe osteochondrodysplasia
- (1993) Genomics , vol.16 , pp. 282
- Vikkula, M.¹ Ritvaniemi, P.² Vuorio, A.P.³ Kaitila, I.⁴ Ala-Kokko, L.⁵ Peltonen, L.⁶

12
- 0024439345
- Glycine to serine substitution in the triple helical domain of proα1(II) collagen results in a lethal perinatal form of short-limbed dwarfism
- (1989) J Biol Chem , vol.264 , pp. 18265
- Vissing, H.¹ Dalessio, M.² Lee, B.³ Ramirez, F.⁴ Godfrey, M.⁵ Hollister, D.W.⁶

13
- 0027471786
- Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect
- (1993) Nature Genet , vol.3 , pp. 323
- Winterpacht, A.¹ Hilbert, M.² Schwarze, U.³ Mundlos, S.⁴ Spranger, J.⁵ Zabel, B.U.⁶

14
- 4244106594
- An exon-skipping mutation in the type II collagen gene (COL2A1) produces Kniest dysplasia (abstract)
- (1993) Am J Hum Genet , vol.53 , pp. 210A
- Wllkin, D.¹ Weis, M.² Gurber, H.³ Rimoin, D.⁴ Eyre, D.⁵ Cohn, D.⁶

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.