Nicholls AC - Search Results

1

A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II.

Richards AJ, Martin S, Nicholls AC, Harrison JB, Pope FM, Burrows NP. Richards AJ, et al. Among authors: nicholls ac. J Med Genet. 1998 Oct;35(10):846-8. doi: 10.1136/jmg.35.10.846. J Med Genet. 1998. PMID: 9783710 Free PMC article.

2

Detection and characterisation of an overmodified type III collagen by analysis of non-cutaneous connective tissues in a patient with Ehlers-Danlos syndrome IV.

Nuytinck L, Narcisi P, Nicholls A, Renard JP, Pope FM, De Paepe A. Nuytinck L, et al. J Med Genet. 1992 Jun;29(6):375-80. doi: 10.1136/jmg.29.6.375. J Med Genet. 1992. PMID: 1619632 Free PMC article.

3

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. Among authors: nicholls ac. Hum Genet. 1992 Jun;89(4):414-8. doi: 10.1007/BF00194313. Hum Genet. 1992. PMID: 1352273

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. Among authors: nicholls ac. Hum Genet. 1992 Jan;88(3):325-30. doi: 10.1007/BF00197268. Hum Genet. 1992. PMID: 1370809

5

Ehlers-Danlos syndrome type VII: a single base change that causes exon skipping in the type I collagen alpha 2(I) chain.

Nicholls AC, Oliver J, Renouf DV, McPheat J, Palan A, Pope FM. Nicholls AC, et al. Hum Genet. 1991 Jun;87(2):193-8. doi: 10.1007/BF00204180. Hum Genet. 1991. PMID: 1712342

6

Linkage of a polymorphic marker for the type III collagen gene (COL3A1) to atypical autosomal dominant Ehlers-Danlos syndrome type IV in a large Belgian pedigree.

Nicholls AC, De Paepe A, Narcisi P, Dalgleish R, De Keyser F, Matton M, Pope FM. Nicholls AC, et al. Hum Genet. 1988 Mar;78(3):276-81. doi: 10.1007/BF00291676. Hum Genet. 1988. PMID: 3162228

7

The gene encoding collagen alpha1(V)(COL5A1) is linked to mixed Ehlers-Danlos syndrome type I/II.

Burrows NP, Nicholls AC, Yates JR, Gatward G, Sarathachandra P, Richards A, Pope FM. Burrows NP, et al. Among authors: nicholls ac. J Invest Dermatol. 1996 Jun;106(6):1273-6. doi: 10.1111/1523-1747.ep12348978. J Invest Dermatol. 1996. PMID: 8752669 Free article.

8

COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture.

Pope FM, Narcisi P, Nicholls AC, Germaine D, Pals G, Richards AJ. Pope FM, et al. Among authors: nicholls ac. Br J Dermatol. 1996 Aug;135(2):163-81. Br J Dermatol. 1996. PMID: 8881656

9

An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome.

Nicholls AC, Oliver JE, McCarron S, Harrison JB, Greenspan DS, Pope FM. Nicholls AC, et al. J Med Genet. 1996 Nov;33(11):940-6. doi: 10.1136/jmg.33.11.940. J Med Genet. 1996. PMID: 8950675 Free PMC article.

10

Genetic linkage to the collagen alpha 1 (V) gene (COL5A1) in two British Ehlers-Danlos syndrome families with variable type I and II phenotypes.

Burrows NP, Nicholls AC, Yates JR, Richards AJ, Pope FM. Burrows NP, et al. Among authors: nicholls ac. Clin Exp Dermatol. 1997 Jul;22(4):174-6. Clin Exp Dermatol. 1997. PMID: 9499606

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

85 results

Search Page

Filters