Kilpatrick MW - Search Results

1

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

2

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

3

A linkage map of 10 loci flanking the Marfan syndrome locus on 15q: results of an International Consortium study.

Sarfarazi M, Tsipouras P, Del Mastro R, Kilpatrick M, Farndon P, Boxer M, Bridges A, Boileau C, Junien C, Hayward C, et al. Sarfarazi M, et al. J Med Genet. 1992 Feb;29(2):75-80. doi: 10.1136/jmg.29.2.75. J Med Genet. 1992. PMID: 1613769 Free PMC article.

4

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.

5

Delivery of a hammerhead ribozyme specifically down-regulates the production of fibrillin-1 by cultured dermal fibroblasts.

Kilpatrick MW, Phylactou LA, Godfrey M, Wu CH, Wu GY, Tsipouras P. Kilpatrick MW, et al. Hum Mol Genet. 1996 Dec;5(12):1939-44. doi: 10.1093/hmg/5.12.1939. Hum Mol Genet. 1996. PMID: 8968747

6

Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1.

Thomas JT, Kilpatrick MW, Lin K, Erlacher L, Lembessis P, Costa T, Tsipouras P, Luyten FP. Thomas JT, et al. Among authors: kilpatrick mw. Nat Genet. 1997 Sep;17(1):58-64. doi: 10.1038/ng0997-58. Nat Genet. 1997. PMID: 9288098

7

A novel G to A substitution at nucleotide 1734 of the FBN1 gene predicting a C534Y mutation responsible for marfan syndrome.

Kilpatrick MW, Lembessis P, Rose E, Tsipouras P. Kilpatrick MW, et al. Hum Hered. 1999 Jun;49(3):176-7. doi: 10.1159/000022867. Hum Hered. 1999. PMID: 10364683 No abstract available.

8

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.

9

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

10

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.

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