Cohn DH - Search Results

1

Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.

Zhang W, Taylor SP, Ennis HA, Forlenza KN, Duran I, Li B, Sanchez JAO, Nevarez L, Nickerson DA, Bamshad M; University of Washington Center for Mendelian Genomics; Lachman RS, Krakow D, Cohn DH. Zhang W, et al. Among authors: cohn dh. Hum Mutat. 2018 Jan;39(1):152-166. doi: 10.1002/humu.23362. Epub 2017 Nov 6. Hum Mutat. 2018. PMID: 29068549 Free PMC article.

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

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. 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.

7

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.

8

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.

9

Localization of a multiple synostoses-syndrome disease gene to chromosome 17q21-22.

Krakow D, Reinker K, Powell B, Cantor R, Priore MA, Garber A, Lachman RS, Rimoin DL, Cohn DH. Krakow D, et al. Among authors: cohn dh. Am J Hum Genet. 1998 Jul;63(1):120-4. doi: 10.1086/301921. Am J Hum Genet. 1998. PMID: 9634519 Free PMC article.

10

Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred.

Ahmad M, Faiyaz Ul Haque M, Ahmad W, Abbas H, Haque S, Krakow D, Rimoin DL, Lachman RS, Cohn DH. Ahmad M, et al. Among authors: cohn dh. Am J Med Genet. 1998 Aug 6;78(5):468-73. Am J Med Genet. 1998. PMID: 9714015

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