Evans A - Search Results

1

The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.

Comeglio P, Johnson P, Arno G, Brice G, Evans A, Aragon-Martin J, da Silva FP, Kiotsekoglou A, Child A. Comeglio P, et al. Among authors: evans a. Hum Mutat. 2007 Sep;28(9):928. doi: 10.1002/humu.9505. Hum Mutat. 2007. PMID: 17657824

2

Detection of six novel FBN1 mutations in British patients affected by Marfan syndrome.

Comeglio P, Evans AL, Brice GW, Child AH. Comeglio P, et al. Among authors: evans al. Hum Mutat. 2001 Sep;18(3):251. doi: 10.1002/humu.1181. Hum Mutat. 2001. Corrected and republished in: Hum Mutat. 2001 Dec;18(6):546-7. doi: 10.1002/humu.1235 PMID: 11524736 Corrected and republished.

3

Erratum: Detection of six novel FBN1 mutations in British patients affected by Marfan syndrome.

Comeglio P, Evans AL, Brice GW, Child AH. Comeglio P, et al. Among authors: evans al. Hum Mutat. 2001 Dec;18(6):546-7. doi: 10.1002/humu.1235. Hum Mutat. 2001. PMID: 11748851

4

Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus.

Comeglio P, Evans AL, Brice G, Cooling RJ, Child AH. Comeglio P, et al. Among authors: evans al. Br J Ophthalmol. 2002 Dec;86(12):1359-62. doi: 10.1136/bjo.86.12.1359. Br J Ophthalmol. 2002. PMID: 12446365 Free PMC article.

5

Gene symbol: FBN1. Disease: Marfan syndrome.

Comeglio P, Evans AL, Brice GW, Anderlid BM, Child AH. Comeglio P, et al. Among authors: evans al. Hum Genet. 2003 Jan;112(1):104. doi: 10.1007/s00439-002-0867-3. Hum Genet. 2003. PMID: 12575662 No abstract available.

6

Mapping of primary congenital lymphedema to the 5q35.3 region.

Evans AL, Brice G, Sotirova V, Mortimer P, Beninson J, Burnand K, Rosbotham J, Child A, Sarfarazi M. Evans AL, et al. Am J Hum Genet. 1999 Feb;64(2):547-55. doi: 10.1086/302248. Am J Hum Genet. 1999. PMID: 9973292 Free PMC article.

7

Milroy disease and the VEGFR-3 mutation phenotype.

Brice G, Child AH, Evans A, Bell R, Mansour S, Burnand K, Sarfarazi M, Jeffery S, Mortimer P. Brice G, et al. Among authors: evans a. J Med Genet. 2005 Feb;42(2):98-102. doi: 10.1136/jmg.2004.024802. J Med Genet. 2005. PMID: 15689446 Free PMC article. Review.

8

A gene for lymphedema-distichiasis maps to 16q24.3.

Mangion J, Rahman N, Mansour S, Brice G, Rosbotham J, Child AH, Murday VA, Mortimer PS, Barfoot R, Sigurdsson A, Edkins S, Sarfarazi M, Burnand K, Evans AL, Nunan TO, Stratton MR, Jeffery S. Mangion J, et al. Among authors: evans al. Am J Hum Genet. 1999 Aug;65(2):427-32. doi: 10.1086/302500. Am J Hum Genet. 1999. PMID: 10417285 Free PMC article.

9

Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema.

Evans AL, Bell R, Brice G, Comeglio P, Lipede C, Jeffery S, Mortimer P, Sarfarazi M, Child AH. Evans AL, et al. J Med Genet. 2003 Sep;40(9):697-703. doi: 10.1136/jmg.40.9.697. J Med Genet. 2003. PMID: 12960217 Free PMC article. No abstract available.

10

Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2.

Syrris P, Ward D, Evans A, Asimaki A, Gandjbakhch E, Sen-Chowdhry S, McKenna WJ. Syrris P, et al. Among authors: evans a. Am J Hum Genet. 2006 Nov;79(5):978-84. doi: 10.1086/509122. Epub 2006 Sep 27. Am J Hum Genet. 2006. PMID: 17033975 Free PMC article.

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