Cohn DH - Search Results

1

Rapid determination of COL2A1 mutations in individuals with Stickler syndrome: analysis of potential premature termination codons.

Wilkin DJ, Liberfarb R, Davis J, Levy HP, Cole WG, Francomano CA, Cohn DH. Wilkin DJ, et al. Among authors: cohn dh. Am J Med Genet. 2000 Sep 11;94(2):141-8. doi: 10.1002/1096-8628(20000911)94:2<141::aid-ajmg6>3.0.co;2-a. Am J Med Genet. 2000. PMID: 10982970

2

A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly691-->Arg) in the type II collagen trimer.

Mortier GR, Wilkin DJ, Wilcox WR, Rimoin DL, Lachman RS, Eyre DR, Cohn DH. Mortier GR, et al. Among authors: cohn dh. Hum Mol Genet. 1995 Feb;4(2):285-8. doi: 10.1093/hmg/4.2.285. Hum Mol Genet. 1995. PMID: 7757081

3

Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.

Tavormina PL, Shiang R, Thompson LM, Zhu YZ, Wilkin DJ, Lachman RS, Wilcox WR, Rimoin DL, Cohn DH, Wasmuth JJ. Tavormina PL, et al. Among authors: cohn dh. Nat Genet. 1995 Mar;9(3):321-8. doi: 10.1038/ng0395-321. Nat Genet. 1995. PMID: 7773297

4

A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia.

Wilkin DJ, Bogaert R, Lachman RS, Rimoin DL, Eyre DR, Cohn DH. Wilkin DJ, et al. Among authors: cohn dh. Hum Mol Genet. 1994 Nov;3(11):1999-2003. doi: 10.1093/hmg/3.11.1999. Hum Mol Genet. 1994. PMID: 7874117

5

Expression, in cartilage, of a 7-amino-acid deletion in type II collagen from two unrelated individuals with Kniest dysplasia.

Bogaert R, Wilkin D, Wilcox WR, Lachman R, Rimoin D, Cohn DH, Eyre DR. Bogaert R, et al. Among authors: cohn dh. Am J Hum Genet. 1994 Dec;55(6):1128-36. Am J Hum Genet. 1994. PMID: 7977371 Free PMC article.

6

A type X collagen mutation causes Schmid metaphyseal chondrodysplasia.

Warman ML, Abbott M, Apte SS, Hefferon T, McIntosh I, Cohn DH, Hecht JT, Olsen BR, Francomano CA. Warman ML, et al. Among authors: cohn dh. Nat Genet. 1993 Sep;5(1):79-82. doi: 10.1038/ng0993-79. Nat Genet. 1993. PMID: 8220429

7

Linkage of typical pseudoachondroplasia to chromosome 19.

Hecht JT, Francomano CA, Briggs MD, Deere M, Conner B, Horton WA, Warman M, Cohn DH, Blanton SH. Hecht JT, et al. Among authors: cohn dh. Genomics. 1993 Dec;18(3):661-6. doi: 10.1016/s0888-7543(05)80370-2. Genomics. 1993. PMID: 8307577

8

Heteroduplex analysis can increase the informativeness of PCR-amplified VNTR markers: application using a marker tightly linked to the COL2A1 gene.

Wilkin DJ, Koprivnikar KE, Cohn DH. Wilkin DJ, et al. Among authors: cohn dh. Genomics. 1993 Feb;15(2):372-5. doi: 10.1006/geno.1993.1070. Genomics. 1993. PMID: 8449503

9

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: cohn dh. Am J Hum Genet. 1998 Feb;62(2):311-9. doi: 10.1086/301713. Am J Hum Genet. 1998. PMID: 9463320 Free PMC article.

10

Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation.

Weis MA, Wilkin DJ, Kim HJ, Wilcox WR, Lachman RS, Rimoin DL, Cohn DH, Eyre DR. Weis MA, et al. Among authors: cohn dh. J Biol Chem. 1998 Feb 20;273(8):4761-8. doi: 10.1074/jbc.273.8.4761. J Biol Chem. 1998. PMID: 9468540 Free article.

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