Boxer M - Search Results

1

CDKN2A mutations in Scottish families with cutaneous melanoma: results from 32 newly identified families.

Lang J, Boxer M, MacKie RM. Lang J, et al. Among authors: boxer m. Br J Dermatol. 2005 Dec;153(6):1121-5. doi: 10.1111/j.1365-2133.2005.06846.x. Br J Dermatol. 2005. PMID: 16307646

2

Absence of exon 15 BRAF germline mutations in familial melanoma.

Lang J, Boxer M, MacKie R. Lang J, et al. Among authors: boxer m. Hum Mutat. 2003 Mar;21(3):327-30. doi: 10.1002/humu.10188. Hum Mutat. 2003. PMID: 12619120

3

A germline mutation in KIT in familial diffuse cutaneous mastocytosis.

Tang X, Boxer M, Drummond A, Ogston P, Hodgins M, Burden AD. Tang X, et al. Among authors: boxer m. J Med Genet. 2004 Jun;41(6):e88. doi: 10.1136/jmg.2003.015156. J Med Genet. 2004. PMID: 15173254 Free PMC article. No abstract available.

4

Muscle fibrillin deficiency in Marfan's syndrome myopathy.

Behan WM, Longman C, Petty RK, Comeglio P, Child AH, Boxer M, Foskett P, Harriman DG. Behan WM, et al. Among authors: boxer m. J Neurol Neurosurg Psychiatry. 2003 May;74(5):633-8. doi: 10.1136/jnnp.74.5.633. J Neurol Neurosurg Psychiatry. 2003. PMID: 12700307 Free PMC article.

5

Cosegregation of intragenic markers with a novel mutation that causes Crigler-Najjar syndrome type I: implication in carrier detection and prenatal diagnosis.

Moghrabi N, Clarke DJ, Burchell B, Boxer M. Moghrabi N, et al. Among authors: boxer m. Am J Hum Genet. 1993 Sep;53(3):722-9. Am J Hum Genet. 1993. PMID: 8102509 Free PMC article.

6

Correlation of a recurrent FBN1 mutation (R122C) with an atypical familial Marfan syndrome phenotype.

Black C, Withers AP, Gray JR, Bridges AB, Craig A, Baty DU, Boxer M. Black C, et al. Among authors: boxer m. Hum Mutat. 1998;Suppl 1:S198-200. doi: 10.1002/humu.1380110164. Hum Mutat. 1998. PMID: 9452085 No abstract available.

7

Prenatal exclusion testing for Huntington's disease: a problem of too much information.

Millan FA, Curtis A, Mennie M, Holloway S, Boxer M, Faed MJ, Crawford JW, Liston WA, Brock DJ. Millan FA, et al. Among authors: boxer m. J Med Genet. 1989 Feb;26(2):83-5. doi: 10.1136/jmg.26.2.83. J Med Genet. 1989. PMID: 2563777 Free PMC article.

8

A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH) in the United Kingdom.

Heath KE, Humphries SE, Middleton-Price H, Boxer M. Heath KE, et al. Among authors: boxer m. Eur J Hum Genet. 2001 Apr;9(4):244-52. doi: 10.1038/sj.ejhg.5200633. Eur J Hum Genet. 2001. PMID: 11313767

9

Life expectancy in British Marfan syndrome populations.

Gray JR, Bridges AB, West RR, McLeish L, Stuart AG, Dean JC, Porteous ME, Boxer M, Davies SJ. Gray JR, et al. Among authors: boxer m. Clin Genet. 1998 Aug;54(2):124-8. doi: 10.1111/j.1399-0004.1998.tb03714.x. Clin Genet. 1998. PMID: 9761390

10

Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.

Collod-Béroud G, Le Bourdelles S, Ades L, Ala-Kokko L, Booms P, Boxer M, Child A, Comeglio P, De Paepe A, Hyland JC, Holman K, Kaitila I, Loeys B, Matyas G, Nuytinck L, Peltonen L, Rantamaki T, Robinson P, Steinmann B, Junien C, Béroud C, Boileau C. Collod-Béroud G, et al. Among authors: boxer m. Hum Mutat. 2003 Sep;22(3):199-208. doi: 10.1002/humu.10249. Hum Mutat. 2003. PMID: 12938084 Review.

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