Richards AJ - Search Results

1

Use of type VII collagen gene (COL7A1) markers in prenatal diagnosis of recessive dystrophic epidermolysis bullosa.

Dunnill MG, Rodeck CH, Richards AJ, Atherton D, Lake BD, Petrou M, Eady RA, Pope FM. Dunnill MG, et al. Among authors: richards aj. J Med Genet. 1995 Sep;32(9):749-50. doi: 10.1136/jmg.32.9.749. J Med Genet. 1995. PMID: 8544200 Free PMC article.

2

A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation.

Richards AJ, Ward PN, Narcisi P, Nicholls AC, Lloyd JC, Pope FM. Richards AJ, et al. Hum Genet. 1992 Jun;89(4):414-8. doi: 10.1007/BF00194313. Hum Genet. 1992. PMID: 1352273

3

A COL3A1 glycine 1006 to glutamic acid substitution in a patient with Ehlers-Danlos syndrome type IV detected by denaturing gradient gel electrophoresis.

Johnson PH, Richards AJ, Pope FM, Hopkinson DA. Johnson PH, et al. Among authors: richards aj. J Inherit Metab Dis. 1992;15(3):426-30. doi: 10.1007/BF02435995. J Inherit Metab Dis. 1992. PMID: 1357232 No abstract available.

4

A 27-bp deletion from one allele of the type III collagen gene (COL3A1) in a large family with Ehlers-Danlos syndrome type IV.

Richards AJ, Lloyd JC, Narcisi P, Ward PN, Nicholls AC, De Paepe A, Pope FM. Richards AJ, et al. Hum Genet. 1992 Jan;88(3):325-30. doi: 10.1007/BF00197268. Hum Genet. 1992. PMID: 1370809

5

Linkage of autosomal dominant dystrophic epidermolysis bullosa in three British families to the marker D3S2 close to the COL7A1 locus.

al-Imara L, Richards AJ, Eady RA, Leigh IM, Farrall M, Pope FM. al-Imara L, et al. Among authors: richards aj. J Med Genet. 1992 Jun;29(6):381-2. doi: 10.1136/jmg.29.6.381. J Med Genet. 1992. PMID: 1377750 Free PMC article.

6

Characterisation of a glycine to valine substitution at amino acid position 910 of the triple helical region of type III collagen in a patient with Ehlers-Danlos syndrome type IV.

Richards AJ, Lloyd JC, Ward PN, De Paepe A, Narcisi P, Pope FM. Richards AJ, et al. J Med Genet. 1991 Jul;28(7):458-63. doi: 10.1136/jmg.28.7.458. J Med Genet. 1991. PMID: 1895316 Free PMC article.

7

A family with Ehlers-Danlos syndrome type III/articular hypermobility syndrome has a glycine 637 to serine substitution in type III collagen.

Narcisi P, Richards AJ, Ferguson SD, Pope FM. Narcisi P, et al. Among authors: richards aj. Hum Mol Genet. 1994 Sep;3(9):1617-20. doi: 10.1093/hmg/3.9.1617. Hum Mol Genet. 1994. PMID: 7833919

8

A novel homozygous point mutation in the collagen VII gene (COL7A1) in two cousins with recessive dystrophic epidermolysis bullosa.

Dunnill MG, Richards AJ, Milana G, Mollica F, Eady RA, Pope FM. Dunnill MG, et al. Among authors: richards aj. Hum Mol Genet. 1994 Sep;3(9):1693-4. doi: 10.1093/hmg/3.9.1693. Hum Mol Genet. 1994. PMID: 7833933 No abstract available.

9

Genetic linkage to the type VII collagen gene (COL7A1) in 26 families with generalised recessive dystrophic epidermolysis bullosa and anchoring fibril abnormalities.

Dunnill MG, Richards AJ, Milana G, Mollica F, Atherton D, Winship I, Farrall M, al-Imara L, Eady RA, Pope FM. Dunnill MG, et al. Among authors: richards aj. J Med Genet. 1994 Oct;31(10):745-8. doi: 10.1136/jmg.31.10.745. J Med Genet. 1994. PMID: 7837248 Free PMC article.

10

Two new mutations affecting the donor splice site of COL3A1 IVS37 and causing skipping of exon 37 in patients with Ehlers-Danlos syndrome type IV.

Richards AJ, Narcisi P, Ferguson C, Cobben JM, Pope FM. Richards AJ, et al. Hum Mol Genet. 1994 Oct;3(10):1901-2. doi: 10.1093/hmg/3.10.1901. Hum Mol Genet. 1994. PMID: 7849722 No abstract available.

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