King LM - 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: king lm. 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

Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12.

Ehtesham N, Cantor RM, King LM, Reinker K, Powell BR, Shanske A, Unger S, Rimoin DL, Cohn DH. Ehtesham N, et al. Among authors: king lm. Am J Hum Genet. 2002 Oct;71(4):947-51. doi: 10.1086/342669. Epub 2002 Aug 2. Am J Hum Genet. 2002. PMID: 12161821 Free PMC article.

3

Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene.

Briggs MD, Hoffman SM, King LM, Olsen AS, Mohrenweiser H, Leroy JG, Mortier GR, Rimoin DL, Lachman RS, Gaines ES, et al. Briggs MD, et al. Among authors: king lm. Nat Genet. 1995 Jul;10(3):330-6. doi: 10.1038/ng0795-330. Nat Genet. 1995. PMID: 7670472

4

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: king lm. 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.

5

Physiological and pathological secretion of cartilage oligomeric matrix protein by cells in culture.

Délot E, Brodie SG, King LM, Wilcox WR, Cohn DH. Délot E, et al. Among authors: king lm. J Biol Chem. 1998 Oct 9;273(41):26692-7. doi: 10.1074/jbc.273.41.26692. J Biol Chem. 1998. PMID: 9756911 Free article.

6

Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) gene.

Délot E, King LM, Briggs MD, Wilcox WR, Cohn DH. Délot E, et al. Among authors: king lm. Hum Mol Genet. 1999 Jan;8(1):123-8. doi: 10.1093/hmg/8.1.123. Hum Mol Genet. 1999. PMID: 9887340

7

Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.

Krakow D, Robertson SP, King LM, Morgan T, Sebald ET, Bertolotto C, Wachsmann-Hogiu S, Acuna D, Shapiro SS, Takafuta T, Aftimos S, Kim CA, Firth H, Steiner CE, Cormier-Daire V, Superti-Furga A, Bonafe L, Graham JM Jr, Grix A, Bacino CA, Allanson J, Bialer MG, Lachman RS, Rimoin DL, Cohn DH. Krakow D, et al. Among authors: king lm. Nat Genet. 2004 Apr;36(4):405-10. doi: 10.1038/ng1319. Epub 2004 Feb 29. Nat Genet. 2004. PMID: 14991055

8

A locus for an autosomal dominant form of progressive renal failure and hypertension at chromosome 1q21.

Cohn DH, Shohat T, Yahav M, Ilan T, Rechavi G, King L, Shohat M. Cohn DH, et al. Am J Hum Genet. 2000 Sep;67(3):647-51. doi: 10.1086/303051. Epub 2000 Aug 4. Am J Hum Genet. 2000. PMID: 10930359 Free PMC article.

9

Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse.

Faiyaz ul Haque M, King LM, Krakow D, Cantor RM, Rusiniak ME, Swank RT, Superti-Furga A, Haque S, Abbas H, Ahmad W, Ahmad M, Cohn DH. Faiyaz ul Haque M, et al. Among authors: king lm. Nat Genet. 1998 Oct;20(2):157-62. doi: 10.1038/2458. Nat Genet. 1998. PMID: 9771708

10

Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder.

Mortier GR, Weis M, Nuytinck L, King LM, Wilkin DJ, De Paepe A, Lachman RS, Rimoin DL, Eyre DR, Cohn DH. Mortier GR, et al. Among authors: king lm. J Med Genet. 2000 Apr;37(4):263-71. doi: 10.1136/jmg.37.4.263. J Med Genet. 2000. PMID: 10745044 Free PMC article.

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