Godfrey M - Search Results

1

Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40.

Tiecke F, Katzke S, Booms P, Robinson PN, Neumann L, Godfrey M, Mathews KR, Scheuner M, Hinkel GK, Brenner RE, Hövels-Gürich HH, Hagemeier C, Fuchs J, Skovby F, Rosenberg T. Tiecke F, et al. Among authors: godfrey m. Eur J Hum Genet. 2001 Jan;9(1):13-21. doi: 10.1038/sj.ejhg.5200582. Eur J Hum Genet. 2001. PMID: 11175294

2

Novel exon skipping mutation in the fibrillin-1 gene: two 'hot spots' for the neonatal Marfan syndrome.

Booms P, Cisler J, Mathews KR, Godfrey M, Tiecke F, Kaufmann UC, Vetter U, Hagemeier C, Robinson PN. Booms P, et al. Among authors: godfrey m. Clin Genet. 1999 Feb;55(2):110-7. doi: 10.1034/j.1399-0004.1999.550207.x. Clin Genet. 1999. PMID: 10189088

3

The molecular genetics of Marfan syndrome and related microfibrillopathies.

Robinson PN, Godfrey M. Robinson PN, et al. Among authors: godfrey m. J Med Genet. 2000 Jan;37(1):9-25. doi: 10.1136/jmg.37.1.9. J Med Genet. 2000. PMID: 10633129 Free PMC article. Review.

4

The molecular genetics of Marfan syndrome and related disorders.

Robinson PN, Arteaga-Solis E, Baldock C, Collod-Béroud G, Booms P, De Paepe A, Dietz HC, Guo G, Handford PA, Judge DP, Kielty CM, Loeys B, Milewicz DM, Ney A, Ramirez F, Reinhardt DP, Tiedemann K, Whiteman P, Godfrey M. Robinson PN, et al. Among authors: godfrey m. J Med Genet. 2006 Oct;43(10):769-87. doi: 10.1136/jmg.2005.039669. Epub 2006 Mar 29. J Med Genet. 2006. PMID: 16571647 Free PMC article. Review.

5

P1148A in fibrillin-1 is not a mutation anymore.

Wang M, Mathews KR, Imaizumi K, Beiraghi S, Blumberg B, Scheuner M, Graham JM Jr, Godfrey M. Wang M, et al. Among authors: godfrey m. Nat Genet. 1997 Jan;15(1):12. doi: 10.1038/ng0197-12. Nat Genet. 1997. PMID: 8988160 No abstract available.

6

The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.

Frédéric MY, Monino C, Marschall C, Hamroun D, Faivre L, Jondeau G, Klein HG, Neumann L, Gautier E, Binquet C, Maslen C, Godfrey M, Gupta P, Milewicz D, Boileau C, Claustres M, Béroud C, Collod-Béroud G. Frédéric MY, et al. Among authors: godfrey m. Hum Mutat. 2009 Feb;30(2):181-90. doi: 10.1002/humu.20794. Hum Mutat. 2009. PMID: 18767143 Free article.

7

Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome.

Wang M, Kishnani P, Decker-Phillips M, Kahler SG, Chen YT, Godfrey M. Wang M, et al. Among authors: godfrey m. J Med Genet. 1996 Sep;33(9):760-3. doi: 10.1136/jmg.33.9.760. J Med Genet. 1996. PMID: 8880577 Free PMC article.

8

Recurrent mis-splicing of fibrillin exon 32 in two patients with neonatal Marfan syndrome.

Wang M, Price C, Han J, Cisler J, Imaizumi K, Van Thienen MN, DePaepe A, Godfrey M. Wang M, et al. Among authors: godfrey m. Hum Mol Genet. 1995 Apr;4(4):607-13. doi: 10.1093/hmg/4.4.607. Hum Mol Genet. 1995. PMID: 7633409

9

Prenatal diagnosis and a donor splice site mutation in fibrillin in a family with Marfan syndrome.

Godfrey M, Vandemark N, Wang M, Velinov M, Wargowski D, Tsipouras P, Han J, Becker J, Robertson W, Droste S, et al. Godfrey M, et al. Am J Hum Genet. 1993 Aug;53(2):472-80. Am J Hum Genet. 1993. PMID: 8101042 Free PMC article.

10

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. Among authors: godfrey m. Hum Mol Genet. 1996 Dec;5(12):1939-44. doi: 10.1093/hmg/5.12.1939. Hum Mol Genet. 1996. PMID: 8968747

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