Brice G - 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: brice g. 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: brice gw. 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: brice gw. Hum Mutat. 2001 Dec;18(6):546-7. doi: 10.1002/humu.1235. Hum Mutat. 2001. PMID: 11748851

4

Gene symbol: FBN1. Disease: Marfan syndrome.

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

5

Lymphoedema-distichiasis and FOXC2: unreported mutations, de novo mutation estimate, families without coding mutations.

Sholto-Douglas-Vernon C, Bell R, Brice G, Mansour S, Sarfarazi M, Child AH, Smith A, Mellor R, Burnand K, Mortimer P, Jeffery S. Sholto-Douglas-Vernon C, et al. Among authors: brice g. Hum Genet. 2005 Jul;117(2-3):238-42. doi: 10.1007/s00439-005-1275-2. Epub 2005 May 20. Hum Genet. 2005. PMID: 15906099

6

Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype.

Ostergaard P, Simpson MA, Brice G, Mansour S, Connell FC, Onoufriadis A, Child AH, Hwang J, Kalidas K, Mortimer PS, Trembath R, Jeffery S. Ostergaard P, et al. Among authors: brice g. J Med Genet. 2011 Apr;48(4):251-5. doi: 10.1136/jmg.2010.085563. Epub 2011 Jan 25. J Med Genet. 2011. PMID: 21266381

7

Clinical features and course of patients with glaucoma with the E50K mutation in the optineurin gene.

Aung T, Rezaie T, Okada K, Viswanathan AC, Child AH, Brice G, Bhattacharya SS, Lehmann OJ, Sarfarazi M, Hitchings RA. Aung T, et al. Among authors: brice g. Invest Ophthalmol Vis Sci. 2005 Aug;46(8):2816-22. doi: 10.1167/iovs.04-1133. Invest Ophthalmol Vis Sci. 2005. PMID: 16043855 Free article.

8

Lipedema: an inherited condition.

Child AH, Gordon KD, Sharpe P, Brice G, Ostergaard P, Jeffery S, Mortimer PS. Child AH, et al. Among authors: brice g. Am J Med Genet A. 2010 Apr;152A(4):970-6. doi: 10.1002/ajmg.a.33313. Am J Med Genet A. 2010. PMID: 20358611

9

Investigating the association between OPA1 polymorphisms and glaucoma: comparison between normal tension and high tension primary open angle glaucoma.

Aung T, Ocaka L, Ebenezer ND, Morris AG, Brice G, Child AH, Hitchings RA, Lehmann OJ, Bhattacharya SS. Aung T, et al. Among authors: brice g. Hum Genet. 2002 May;110(5):513-4. doi: 10.1007/s00439-002-0711-9. Epub 2002 Apr 10. Hum Genet. 2002. PMID: 12073024

10

Distichiasis-lymphoedema: clinical features, venous function and lymphoscintigraphy.

Rosbotham JL, Brice GW, Child AH, Nunan TO, Mortimer PS, Burnand KG. Rosbotham JL, et al. Among authors: brice gw. Br J Dermatol. 2000 Jan;142(1):148-52. doi: 10.1046/j.1365-2133.2000.03258.x. Br J Dermatol. 2000. PMID: 10651712

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