Ritvaniemi P - Search Results

1

Substitution of aspartic acid for glycine at position 310 in type II collagen produces achondrogenesis II, and substitution of serine at position 805 produces hypochondrogenesis: analysis of genotype-phenotype relationships.

Bonaventure J, Cohen-Solal L, Ritvaniemi P, Van Maldergem L, Kadhom N, Delezoide AL, Maroteaux P, Prockop DJ, Ala-Kokko L. Bonaventure J, et al. Among authors: ritvaniemi p. Biochem J. 1995 May 1;307 ( Pt 3)(Pt 3):823-30. doi: 10.1042/bj3070823. Biochem J. 1995. PMID: 7741714 Free PMC article.

2

Mutation in the COL2A1 gene in a patient with hypochondrogenesis. Expression of mutated COL2A1 gene is accompanied by expression of genes for type I procollagen in chondrocytes.

Freisinger P, Ala-Kokko L, LeGuellec D, Franc S, Bouvier R, Ritvaniemi P, Prockop DJ, Bonaventure J. Freisinger P, et al. Among authors: ritvaniemi p. J Biol Chem. 1994 May 6;269(18):13663-9. J Biol Chem. 1994. PMID: 8175802 Free article.

3

A single base mutation in the type II procollagen gene (COL2A1) that converts glycine alpha 1-247 to serine in a family with late-onset spondyloepiphyseal dysplasia.

Ritvaniemi P, Sokolov BP, Williams CJ, Considine E, Yurgenev L, Meerson EM, Ala-Kokko L, Prockop DJ. Ritvaniemi P, et al. Hum Mutat. 1994;3(3):261-7. doi: 10.1002/humu.1380030314. Hum Mutat. 1994. PMID: 8019561

4

Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy).

Körkkö J, Ritvaniemi P, Haataja L, Kääriäinen H, Kivirikko KI, Prockop DJ, Ala-Kokko L. Körkkö J, et al. Among authors: ritvaniemi p. Am J Hum Genet. 1993 Jul;53(1):55-61. Am J Hum Genet. 1993. PMID: 8317498 Free PMC article.

5

A fourth example suggests that premature termination codons in the COL2A1 gene are a common cause of the Stickler syndrome: analysis of the COL2A1 gene by denaturing gradient gel electrophoresis.

Ritvaniemi P, Hyland J, Ignatius J, Kivirikko KI, Prockop DJ, Ala-Kokko L. Ritvaniemi P, et al. Genomics. 1993 Jul;17(1):218-21. doi: 10.1006/geno.1993.1306. Genomics. 1993. PMID: 8406454

6

A mutation in the amino-terminal end of the triple helix of type II collagen causing severe osteochondrodysplasia.

Vikkula M, Ritvaniemi P, Vuorio AF, Kaitila I, Ala-Kokko L, Peltonen L. Vikkula M, et al. Among authors: ritvaniemi p. Genomics. 1993 Apr;16(1):282-5. doi: 10.1006/geno.1993.1179. Genomics. 1993. PMID: 8486375

7

Early-onset osteoarthritis linked to the type II procollagen gene. Detailed clinical phenotype and further analyses of the gene.

Vikkula M, Palotie A, Ritvaniemi P, Ott J, Ala-Kokko L, Sievers U, Aho K, Peltonen L. Vikkula M, et al. Among authors: ritvaniemi p. Arthritis Rheum. 1993 Mar;36(3):401-9. doi: 10.1002/art.1780360317. Arthritis Rheum. 1993. PMID: 8452585

8

Identification of COL2A1 gene mutations in patients with chondrodysplasias and familial osteoarthritis.

Ritvaniemi P, Körkkö J, Bonaventure J, Vikkula M, Hyland J, Paassilta P, Kaitila I, Kääriäinen H, Sokolov BP, Hakala M, et al. Ritvaniemi P, et al. Arthritis Rheum. 1995 Jul;38(7):999-1004. doi: 10.1002/art.1780380717. Arthritis Rheum. 1995. PMID: 7612049

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