A C Nicholls
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Explore the profile of A C Nicholls including associated specialties, affiliations and a list of published articles.
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58
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Recent Articles
11.
Oliver J, Thompson E, Pope F, Nicholls A
Hum Mutat
. 1996 Jan;
7(4):318-26.
PMID: 8723681
A young girl presented with severe type III osteogenesis imperfecta; her otherwise healthy mother also had a mild connective tissue disorder with blue sclerae and recurrent joint dislocations. Skin fibroblast...
12.
Richards A, Ward P, Narcisi P, Nicholls A, Lloyd J, Pope F
Hum Genet
. 1992 Jun;
89(4):414-8.
PMID: 1352273
Ehlers-Danlos syndrome type IV, an inherited connective tissue disease, is usually caused by mutations in the gene for type III collagen. Here, we describe a glycine to glutamic acid substitution...
13.
Nicholls A, Oliver J, Renouf D, Heath D, Pope F
Hum Genet
. 1992 Mar;
88(6):627-33.
PMID: 1551666
We have investigated a family with an autosomal dominantly inherited connective-tissue defect causing extreme joint hypermobility, premature osteoporosis and late-onset fractures. Analysis of collagenous proteins from affected individuals showed a...
14.
Pope F, Nicholls A, Palan A, Kwee M, De Groot W, Hausmann R
Br J Dermatol
. 1992 Jan;
126(1):77-82.
PMID: 1536766
The clinical features of a father and daughter with Ehlers-Danlos syndrome type VIIB are described. They included severe cutaneous fragility, generalized joint laxity, kyphoscoliosis and a slightly dysmorphic face in...
15.
Richards A, Lloyd J, Narcisi P, Ward P, Nicholls A, De Paepe A, et al.
Hum Genet
. 1992 Jan;
88(3):325-30.
PMID: 1370809
A large family with Ehlers-Danlos syndrome type IV (EDS IV) has previously been described. Unlike most cases of EDS IV, fibroblasts from affected members secreted near normal amounts of type...
16.
Nicholls A, Oliver J, Renouf D, Keston M, Pope F
J Med Genet
. 1991 Nov;
28(11):757-64.
PMID: 1770532
We have examined the type I collagen in a patient with type III/IV osteogenesis imperfecta. Two forms of alpha 1(I) chain were produced, one normal and the other containing a...
17.
Nicholls A, Oliver J, Renouf D, McPheat J, Palan A, Pope F
Hum Genet
. 1991 Jun;
87(2):193-8.
PMID: 1712342
We have examined the procollagens and collagens produced by skin fibroblasts from a patient with Ehlers-Danlos syndrome type VII. The patient was heterozygous for an abnormal alpha 2(I) chain migrating...
18.
19.
KOMOROWSKA A, ROZYNKOWA D, Lee K, Renouf D, Nicholls A, Mackenzie J, et al.
Br Dent J
. 1989 Oct;
167(7):239-43.
PMID: 2789906
A case is described of four generations of a Polish family with characteristic features of dentinogenesis imperfecta, who also presented with a variety of generalised connective tissue features, suggestive of...
20.
Williams E, Nicholls A, Daw S, Mitchell N, Levin L, Green B, et al.
Clin Genet
. 1989 Mar;
35(3):181-90.
PMID: 2650933
Severe Sillence type II/III Osteogenesis imperfecta (OI) is a lethal or severely crippling disease with either autosomal dominant or recessively inherited type I collagen mutations. Here we describe the detailed...