Nicholls A - Search Results

1

Ehlers-Danlos syndrome type I: a clinical and ultrastructural study of a family with reduced amounts of collagen type III.

De Paepe A, Nicholls A, Narcisi P, De Keyser F, Quatacker J, Van Staey M, Matton M, Pope FM. De Paepe A, et al. Among authors: nicholls a. Br J Dermatol. 1987 Jul;117(1):89-97. doi: 10.1111/j.1365-2133.1987.tb04096.x. Br J Dermatol. 1987. PMID: 3651336

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. Among authors: nicholls a. 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 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

4

Clinical features of an affected father and daughter with Ehlers-Danlos syndrome type VIIB.

Pope FM, Nicholls AC, Palan A, Kwee ML, De Groot WP, Hausmann R. Pope FM, et al. Among authors: nicholls ac. Br J Dermatol. 1992 Jan;126(1):77-82. doi: 10.1111/j.1365-2133.1992.tb08409.x. Br J Dermatol. 1992. PMID: 1536766

5

Type III collagen mutations in Ehlers Danlos syndrome type IV and other related disorders.

Pope FM, Nicholls AC, Narcisi P, Temple A, Chia Y, Fryer P, De Paepe A, De Groote WP, McEwan JR, Compston DA, et al. Pope FM, et al. Among authors: nicholls ac. Clin Exp Dermatol. 1988 Sep;13(5):285-302. doi: 10.1111/j.1365-2230.1988.tb00709.x. Clin Exp Dermatol. 1988. PMID: 3076851 Review. No abstract available.

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

Clinical presentations of Ehlers Danlos syndrome type IV.

Pope FM, Narcisi P, Nicholls AC, Liberman M, Oorthuys JW. Pope FM, et al. Among authors: nicholls ac. Arch Dis Child. 1988 Sep;63(9):1016-25. doi: 10.1136/adc.63.9.1016. Arch Dis Child. 1988. PMID: 3178263 Free PMC article.

8

Ehlers-Danlos syndrome type IV mimicking non-accidental injury in a child.

Roberts DL, Pope FM, Nicholls AC, Narcisi P. Roberts DL, et al. Among authors: nicholls ac. Br J Dermatol. 1984 Sep;111(3):341-5. doi: 10.1111/j.1365-2133.1984.tb04733.x. Br J Dermatol. 1984. PMID: 6477831

9

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.

10

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

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