Knowlton RG - Search Results

1

Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum.

Briggs MD, Mortier GR, Cole WG, King LM, Golik SS, Bonaventure J, Nuytinck L, De Paepe A, Leroy JG, Biesecker L, Lipson M, Wilcox WR, Lachman RS, Rimoin DL, Knowlton RG, Cohn DH. Briggs MD, et al. Among authors: knowlton rg. Am J Hum Genet. 1998 Feb;62(2):311-9. doi: 10.1086/301713. Am J Hum Genet. 1998. PMID: 9463320 Free PMC article.

2

Mutations in the cartilage oligomeric matrix protein (COMP) gene in pseudoachondroplasia and multiple epiphyseal dysplasia.

Cohn DH, Briggs MD, King LM, Rimoin DL, Wilcox WR, Lachman RS, Knowlton RG. Cohn DH, et al. Among authors: knowlton rg. Ann N Y Acad Sci. 1996 Jun 8;785:188-94. doi: 10.1111/j.1749-6632.1996.tb56258.x. Ann N Y Acad Sci. 1996. PMID: 8702126 Review. No abstract available.

3

Multiple epiphyseal dysplasia, ribbing type: a novel point mutation in the COMP gene in a South African family.

Ballo R, Briggs MD, Cohn DH, Knowlton RG, Beighton PH, Ramesar RS. Ballo R, et al. Among authors: knowlton rg. Am J Med Genet. 1997 Feb 11;68(4):396-400. Am J Med Genet. 1997. PMID: 9021009

4

High-resolution genetic and physical mapping of multiple epiphyseal dysplasia and pseudoachondroplasia mutations at chromosome 19p13.1-p12.

Knowlton RG, Cekleniak JA, Cohn DH, Briggs MD, Hoffman SM, Brandriff BF, Olsen AS. Knowlton RG, et al. Genomics. 1995 Aug 10;28(3):513-9. doi: 10.1006/geno.1995.1183. Genomics. 1995. PMID: 7490089

5

Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia.

Loughlin J, Irven C, Mustafa Z, Briggs MD, Carr A, Lynch SA, Knowlton RG, Cohn DH, Sykes B. Loughlin J, et al. Among authors: knowlton rg. Hum Mutat. 1998;Suppl 1:S10-7. doi: 10.1002/humu.1380110105. Hum Mutat. 1998. PMID: 9452026 No abstract available.

6

Genetic linkage mapping of multiple epiphyseal dysplasia to the pericentromeric region of chromosome 19.

Oehlmann R, Summerville GP, Yeh G, Weaver EJ, Jimenez SA, Knowlton RG. Oehlmann R, et al. Among authors: knowlton rg. Am J Hum Genet. 1994 Jan;54(1):3-10. Am J Hum Genet. 1994. PMID: 8279467 Free PMC article.

7

Exclusion of type II and type VI procollagen gene mutations in a five-generation family with multiple epiphyseal dysplasia.

Weaver EJ, Summerville GP, Yeh G, Hervada-Page M, Oehlmann R, Rothman R, Jimenez SA, Knowlton RG. Weaver EJ, et al. Among authors: knowlton rg. Am J Med Genet. 1993 Feb 1;45(3):345-52. doi: 10.1002/ajmg.1320450312. Am J Med Genet. 1993. PMID: 8094597

8

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. Among authors: knowlton rg. Hum Genet. 1993 Nov;92(5):499-505. doi: 10.1007/BF00216458. Hum Genet. 1993. PMID: 8244341

9

A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon.

Ahmad NN, McDonald-McGinn DM, Zackai EH, Knowlton RG, LaRossa D, DiMascio J, Prockop DJ. Ahmad NN, et al. Among authors: knowlton rg. Am J Hum Genet. 1993 Jan;52(1):39-45. Am J Hum Genet. 1993. PMID: 8434604 Free PMC article. Review.

10

Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling.

Arbour NC, Zlotogora J, Knowlton RG, Merin S, Rosenmann A, Kanis AB, Rokhlina T, Stone EM, Sheffield VC. Arbour NC, et al. Among authors: knowlton rg. Hum Mol Genet. 1997 May;6(5):689-94. doi: 10.1093/hmg/6.5.689. Hum Mol Genet. 1997. PMID: 9158143

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