Cohn DH - Search Results

1

Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome.

Merrill AE, Merriman B, Farrington-Rock C, Camacho N, Sebald ET, Funari VA, Schibler MJ, Firestein MH, Cohn ZA, Priore MA, Thompson AK, Rimoin DL, Nelson SF, Cohn DH, Krakow D. Merrill AE, et al. Among authors: cohn za, cohn dh. Am J Hum Genet. 2009 Apr;84(4):542-9. doi: 10.1016/j.ajhg.2009.03.015. Am J Hum Genet. 2009. PMID: 19361615 Free PMC article.

2

Cysteine in the triple helical domain of the pro alpha 2(I) chain of type-I collagen in nonlethal forms of osteogenesis imperfecta.

Cohn DH, Byers PH. Cohn DH, et al. Hum Genet. 1991 Jun;87(2):167-72. doi: 10.1007/BF00204175. Hum Genet. 1991. PMID: 2066103

3

Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1).

Cohn DH, Starman BJ, Blumberg B, Byers PH. Cohn DH, et al. Am J Hum Genet. 1990 Mar;46(3):591-601. Am J Hum Genet. 1990. PMID: 2309707 Free PMC article.

4

Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia.

Tiller GE, Rimoin DL, Murray LW, Cohn DH. Tiller GE, et al. Among authors: cohn dh. Proc Natl Acad Sci U S A. 1990 May;87(10):3889-93. doi: 10.1073/pnas.87.10.3889. Proc Natl Acad Sci U S A. 1990. PMID: 2339128 Free PMC article.

5

Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type.

Tiller GE, Polumbo PA, Weis MA, Bogaert R, Lachman RS, Cohn DH, Rimoin DL, Eyre DR. Tiller GE, et al. Among authors: cohn dh. Nat Genet. 1995 Sep;11(1):87-9. doi: 10.1038/ng0995-87. Nat Genet. 1995. PMID: 7550321

6

Clinical--molecular correlations in the skeletal dysplasias.

Rimoin DL, Cohn DH, Eyre D. Rimoin DL, et al. Among authors: cohn dh. Pediatr Radiol. 1994;24(6):425-6. doi: 10.1007/BF02011909. Pediatr Radiol. 1994. PMID: 7700719 Review. No abstract available.

7

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

8

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

9

An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita.

Tiller GE, Weis MA, Polumbo PA, Gruber HE, Rimoin DL, Cohn DH, Eyre DR. Tiller GE, et al. Among authors: cohn dh. Am J Hum Genet. 1995 Feb;56(2):388-95. Am J Hum Genet. 1995. PMID: 7847372 Free PMC article.

10

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

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