Mortlock DP - Search Results

1

Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome.

Goodman FR, Bacchelli C, Brady AF, Brueton LA, Fryns JP, Mortlock DP, Innis JW, Holmes LB, Donnenfeld AE, Feingold M, Beemer FA, Hennekam RC, Scambler PJ. Goodman FR, et al. Among authors: mortlock dp. Am J Hum Genet. 2000 Jul;67(1):197-202. doi: 10.1086/302961. Epub 2000 Jun 5. Am J Hum Genet. 2000. PMID: 10839976 Free PMC article.

2

A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome.

Innis JW, Goodman FR, Bacchelli C, Williams TM, Mortlock DP, Sateesh P, Scambler PJ, McKinnon W, Guttmacher AE. Innis JW, et al. Among authors: mortlock dp. Hum Mutat. 2002 May;19(5):573-4. doi: 10.1002/humu.9036. Hum Mutat. 2002. PMID: 11968094 Free article.

3

Mutation of HOXA13 in hand-foot-genital syndrome.

Mortlock DP, Innis JW. Mortlock DP, et al. Nat Genet. 1997 Feb;15(2):179-80. doi: 10.1038/ng0297-179. Nat Genet. 1997. PMID: 9020844

4

Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse model.

Innis JW, Mortlock D, Chen Z, Ludwig M, Williams ME, Williams TM, Doyle CD, Shao Z, Glynn M, Mikulic D, Lehmann K, Mundlos S, Utsch B. Innis JW, et al. Hum Mol Genet. 2004 Nov 15;13(22):2841-51. doi: 10.1093/hmg/ddh306. Epub 2004 Sep 22. Hum Mol Genet. 2004. PMID: 15385446

5

Limb development: molecular dysmorphology is at hand!

Innis JW, Mortlock DP. Innis JW, et al. Among authors: mortlock dp. Clin Genet. 1998 May;53(5):337-48. doi: 10.1111/j.1399-0004.1998.tb02744.x. Clin Genet. 1998. PMID: 9660051 Free article. Review.

6

The molecular basis of hypodactyly (Hd): a deletion in Hoxa 13 leads to arrest of digital arch formation.

Mortlock DP, Post LC, Innis JW. Mortlock DP, et al. Nat Genet. 1996 Jul;13(3):284-9. doi: 10.1038/ng0796-284. Nat Genet. 1996. PMID: 8673126

7

Evolution of N-terminal sequences of the vertebrate HOXA13 protein.

Mortlock DP, Sateesh P, Innis JW. Mortlock DP, et al. Mamm Genome. 2000 Feb;11(2):151-8. doi: 10.1007/s003350010029. Mamm Genome. 2000. PMID: 10656931 Free article.

8

Orientation of the Hoxa complex and placement of the Hd locus distal to Hoxa2 on mouse chromosome 6.

Innis JW, Darling SM, Kazen-Gillespie K, Post LC, Mortlock DP, Yang T. Innis JW, et al. Among authors: mortlock dp. Mamm Genome. 1996 Mar;7(3):216-7. doi: 10.1007/s003359900058. Mamm Genome. 1996. PMID: 8833244 No abstract available.

9

An efficient method for isolating putative promoters and 5'-transcribed sequences from large genomic clones.

Mortlock DP, Nelson MR, Innis JW. Mortlock DP, et al. Genome Res. 1996 Apr;6(4):327-35. doi: 10.1101/gr.6.4.327. Genome Res. 1996. PMID: 8723725 Free article.

10

Assessing the functional characteristics of synonymous and nonsynonymous mutation candidates by use of large DNA constructs.

Eeds AM, Mortlock D, Wade-Martins R, Summar ML. Eeds AM, et al. Am J Hum Genet. 2007 Apr;80(4):740-50. doi: 10.1086/513287. Epub 2007 Mar 8. Am J Hum Genet. 2007. PMID: 17357079 Free PMC article.

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