Kilpatrick MW - Search Results

1

Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27.

Ianakiev P, Kilpatrick MW, Toudjarska I, Basel D, Beighton P, Tsipouras P. Ianakiev P, et al. Among authors: kilpatrick mw. Am J Hum Genet. 2000 Jul;67(1):59-66. doi: 10.1086/302972. Epub 2000 Jun 5. Am J Hum Genet. 2000. PMID: 10839977 Free PMC article.

2

The expanding panorama of split hand foot malformation.

Basel D, Kilpatrick MW, Tsipouras P. Basel D, et al. Among authors: kilpatrick mw. Am J Med Genet A. 2006 Jul 1;140(13):1359-65. doi: 10.1002/ajmg.a.31304. Am J Med Genet A. 2006. PMID: 16763964 Review.

3

Distal limb malformations: underlying mechanisms and clinical associations.

Sifakis S, Basel D, Ianakiev P, Kilpatrick M, Tsipouras P. Sifakis S, et al. Clin Genet. 2001 Sep;60(3):165-72. doi: 10.1034/j.1399-0004.2001.600301.x. Clin Genet. 2001. PMID: 11595015 Review.

4

A common FGFR3 gene mutation is present in achondroplasia but not in hypochondroplasia.

Stoilov I, Kilpatrick MW, Tsipouras P. Stoilov I, et al. Among authors: kilpatrick mw. Am J Med Genet. 1995 Jan 2;55(1):127-33. doi: 10.1002/ajmg.1320550132. Am J Med Genet. 1995. PMID: 7702086

5

Localization of an acromesomelic dysplasia on chromosome 9 by homozygosity mapping.

Ianakiev P, Kilpatrick MW, Daly MJ, Zolindaki A, Bagley D, Beighton G, Beighton P, Tsipouras P. Ianakiev P, et al. Among authors: kilpatrick mw. Clin Genet. 2000 Apr;57(4):278-83. doi: 10.1034/j.1399-0004.2000.570406.x. Clin Genet. 2000. PMID: 10845568

6

Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene.

Ianakiev P, van Baren MJ, Daly MJ, Toledo SP, Cavalcanti MG, Neto JC, Silveira EL, Freire-Maia A, Heutink P, Kilpatrick MW, Tsipouras P. Ianakiev P, et al. Among authors: kilpatrick mw. Am J Hum Genet. 2001 Jan;68(1):38-45. doi: 10.1086/316955. Epub 2000 Nov 22. Am J Hum Genet. 2001. PMID: 11090342 Free PMC article.

7

Split hand foot malformation is associated with a reduced level of Dactylin gene expression.

Basel D, DePaepe A, Kilpatrick MW, Tsipouras P. Basel D, et al. Among authors: kilpatrick mw. Clin Genet. 2003 Oct;64(4):350-4. doi: 10.1034/j.1399-0004.2003.00153.x. Clin Genet. 2003. PMID: 12974740

8

Haplotype analysis enables the diagnosis of Marfan syndrome.

Basel D, Kilpatrick MW, Tsipouras P. Basel D, et al. Among authors: kilpatrick mw. Conn Med. 2004 Jun-Jul;68(6):363-6. Conn Med. 2004. PMID: 15266886

9

A common FGFR3 gene mutation in hypochondroplasia.

Prinos P, Costa T, Sommer A, Kilpatrick MW, Tsipouras P. Prinos P, et al. Among authors: kilpatrick mw. Hum Mol Genet. 1995 Nov;4(11):2097-101. doi: 10.1093/hmg/4.11.2097. Hum Mol Genet. 1995. PMID: 8589686

10

A split hand-split foot (SHFM3) gene is located at 10q24-->25.

Gurrieri F, Prinos P, Tackels D, Kilpatrick MW, Allanson J, Genuardi M, Vuckov A, Nanni L, Sangiorgi E, Garofalo G, Nunes ME, Neri G, Schwartz C, Tsipouras P. Gurrieri F, et al. Among authors: kilpatrick mw. Am J Med Genet. 1996 Apr 24;62(4):427-36. doi: 10.1002/(SICI)1096-8628(19960424)62:4<427::AID-AJMG16>3.0.CO;2-Q. Am J Med Genet. 1996. PMID: 8723077

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