Williams CJ - Search Results

1

Five families with arginine 519-cysteine mutation in COL2A1: evidence for three distinct founders.

Bleasel JF, Holderbaum D, Brancolini V, Moskowitz RW, Considine EL, Prockop DJ, Devoto M, Williams CJ. Bleasel JF, et al. Among authors: williams cj. Hum Mutat. 1998;12(3):172-6. doi: 10.1002/(SICI)1098-1004(1998)12:3<172::AID-HUMU4>3.0.CO;2-J. Hum Mutat. 1998. PMID: 9711874

2

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. Among authors: williams cj. Hum Mutat. 1994;3(3):261-7. doi: 10.1002/humu.1380030314. Hum Mutat. 1994. PMID: 8019561

3

Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an Arg75-->Cys mutation in the procollagen type II gene (COL2A1).

Williams CJ, Considine EL, Knowlton RG, Reginato A, Neumann G, Harrison D, Buxton P, Jimenez S, Prockop DJ. Williams CJ, et al. Hum Genet. 1993 Nov;92(5):499-505. doi: 10.1007/BF00216458. Hum Genet. 1993. PMID: 8244341

4

Detection of sequence variants in the gene for human type II procollagen (COL2A1) by direct sequencing of polymerase chain reaction-amplified genomic DNA.

Williams CJ, Harrison DA, Hopkinson I, Baldwin CT, Ahmad NN, Ala-Kokko L, Korn RM, Buxton PG, Dimascio J, Considine EL, et al. Williams CJ, et al. Hum Mutat. 1992;1(5):403-16. doi: 10.1002/humu.1380010510. Hum Mutat. 1992. PMID: 1301950

5

Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519-->Cys base substitution using conformation sensitive gel electrophoresis.

Williams CJ, Rock M, Considine E, McCarron S, Gow P, Ladda R, McLain D, Michels VM, Murphy W, Prockop DJ, et al. Williams CJ, et al. Hum Mol Genet. 1995 Feb;4(2):309-12. doi: 10.1093/hmg/4.2.309. Hum Mol Genet. 1995. PMID: 7757086 No abstract available.

6

Arg519-Cys mutation in COL2A1: evidence for multiple founders.

Bleasel JF, Holderbaum D, Brancolini V, Moskowitz RW, Haqqi TM, Considine E, Prockop DJ, Devoto M, Williams CJ. Bleasel JF, et al. Among authors: williams cj. Ann N Y Acad Sci. 1996 Jun 8;785:215-8. doi: 10.1111/j.1749-6632.1996.tb56265.x. Ann N Y Acad Sci. 1996. PMID: 8702133 No abstract available.

7

A-2-->G transition at the 3' acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred.

Williams CJ, Ganguly A, Considine E, McCarron S, Prockop DJ, Walsh-Vockley C, Michels VV. Williams CJ, et al. Am J Med Genet. 1996 Jun 14;63(3):461-7. doi: 10.1002/(SICI)1096-8628(19960614)63:3<461::AID-AJMG9>3.0.CO;2-U. Am J Med Genet. 1996. PMID: 8737653

8

First-stage autosomal genome screen in extended pedigrees suggests genes predisposing to low bone mineral density on chromosomes 1p, 2p and 4q.

Devoto M, Shimoya K, Caminis J, Ott J, Tenenhouse A, Whyte MP, Sereda L, Hall S, Considine E, Williams CJ, Tromp G, Kuivaniemi H, Ala-Kokko L, Prockop DJ, Spotila LD. Devoto M, et al. Among authors: williams cj. Eur J Hum Genet. 1998 Mar-Apr;6(2):151-7. doi: 10.1038/sj.ejhg.5200169. Eur J Hum Genet. 1998. PMID: 9781060

9

Refinement of the chromosome 5p locus for familial calcium pyrophosphate dihydrate deposition disease.

Andrew LJ, Brancolini V, de la Pena LS, Devoto M, Caeiro F, Marchegiani R, Reginato A, Gaucher A, Netter P, Gillet P, Loeuille D, Prockop DJ, Carr A, Wordsworth BF, Lathrop M, Butcher S, Considine E, Everts K, Nicod A, Walsh S, Williams CJ. Andrew LJ, et al. Among authors: williams cj. Am J Hum Genet. 1999 Jan;64(1):136-45. doi: 10.1086/302186. Am J Hum Genet. 1999. PMID: 9915952 Free PMC article.

10

Synthesis and processing of a type I procollagen containing shortened pro-alpha 1(I) chains by fibroblasts from a patient with osteogenesis imperfecta.

Williams CJ, Prockop DJ. Williams CJ, et al. J Biol Chem. 1983 May 10;258(9):5915-21. J Biol Chem. 1983. PMID: 6304100 Free article.

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