Prockop DJ - Search Results

1

Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis.

Körkkö J, Cohn DH, Ala-Kokko L, Krakow D, Prockop DJ. Körkkö J, et al. Among authors: prockop dj. Am J Med Genet. 2000 May 15;92(2):95-100. doi: 10.1002/(sici)1096-8628(20000515)92:2<95::aid-ajmg3>3.0.co;2-9. Am J Med Genet. 2000. PMID: 10797431

2

Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations.

Körkkö J, Ala-Kokko L, De Paepe A, Nuytinck L, Earley J, Prockop DJ. Körkkö J, et al. Among authors: prockop dj. Am J Hum Genet. 1998 Jan;62(1):98-110. doi: 10.1086/301689. Am J Hum Genet. 1998. PMID: 9443882 Free PMC article.

3

Conformation sensitive gel electrophoresis for simple and accurate detection of mutations: comparison with denaturing gradient gel electrophoresis and nucleotide sequencing.

Körkkö J, Annunen S, Pihlajamaa T, Prockop DJ, Ala-Kokko L. Körkkö J, et al. Among authors: prockop dj. Proc Natl Acad Sci U S A. 1998 Feb 17;95(4):1681-5. doi: 10.1073/pnas.95.4.1681. Proc Natl Acad Sci U S A. 1998. PMID: 9465076 Free PMC article.

4

Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia.

Ala-Kokko L, Baldwin CT, Moskowitz RW, Prockop DJ. Ala-Kokko L, et al. Among authors: prockop dj. Proc Natl Acad Sci U S A. 1990 Sep;87(17):6565-8. doi: 10.1073/pnas.87.17.6565. Proc Natl Acad Sci U S A. 1990. PMID: 1975693 Free PMC article.

5

Completion of the intron-exon structure of the gene for human type II procollagen (COL2A1): variations in the nucleotide sequences of the alleles from three chromosomes.

Ala-Kokko L, Prockop DJ. Ala-Kokko L, et al. Among authors: prockop dj. Genomics. 1990 Nov;8(3):454-60. doi: 10.1016/0888-7543(90)90031-o. Genomics. 1990. PMID: 1981048

6

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: prockop dj. Am J Hum Genet. 1993 Jul;53(1):55-61. Am J Hum Genet. 1993. PMID: 8317498 Free PMC article.

7

Deletion of a large domain in recombinant human procollagen II does not alter the thermal stability of the triple helix.

Sieron AL, Fertala A, Ala-Kokko L, Prockop DJ. Sieron AL, et al. Among authors: prockop dj. J Biol Chem. 1993 Oct 5;268(28):21232-7. J Biol Chem. 1993. PMID: 8407960 Free article.

8

Complete structure of the human COL11A2 gene: the exon sizes and other features indicate the gene has not evolved with genes for other fibriller collagens.

Vuoristo MM, Pihlajamaa T, Vandenberg P, Körkkö J, Prockop DJ, Ala-Kokko L. Vuoristo MM, et al. Among authors: prockop dj. Ann N Y Acad Sci. 1996 Jun 8;785:343-4. doi: 10.1111/j.1749-6632.1996.tb56304.x. Ann N Y Acad Sci. 1996. PMID: 8702176 No abstract available.

9

The mouse col11a2 gene. Some transcripts from the adjacent rxr-beta gene extend into the col11a2 gene.

Vandenberg P, Vuoristo MM, Ala-Kokko L, Prockop DJ. Vandenberg P, et al. Among authors: prockop dj. Matrix Biol. 1996 Nov;15(5):359-67. doi: 10.1016/s0945-053x(96)90139-0. Matrix Biol. 1996. PMID: 8981332

10

Use of conformation sensitive gel electrophoresis to detect single-base changes in the gene for COL10A1.

Körkkö J, Milunsky J, Prockop DJ, Ala-Kokko L. Körkkö J, et al. Among authors: prockop dj. Hum Mutat. 1998;Suppl 1:S201-3. doi: 10.1002/humu.1380110165. Hum Mutat. 1998. PMID: 9452086 No abstract available.

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