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A C Nicholls

Explore the profile of A C Nicholls including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 58
Citations 558
Followers 0
Related Specialties
Genetics
General Medicine
Dermatology
Top 10 Co-Authors
F M Pope
P Narcisi
A J Richards
D V Renouf
A J Bailey
J Oliver
N P Burrows
A De Paepe
J B Harrison
J R Yates
Published In
J Med Genet
Lancet
Hum Genet
J Clin Pathol
Br J Dermatol
Affiliations
Soon will be listed here.
Recent Articles
1.
Homozygosity for a splice site mutation of the COL1A2 gene yields a non-functional pro(alpha)2(I) chain and an EDS/OI clinical phenotype
Nicholls A, Valler D, Wallis S, Pope F
J Med Genet . 2001 Apr; 38(2):132-6. PMID: 11288717
No abstract available.
2.
Clinical phenotypes and molecular characterisation of three patients with Ehlers-Danlos syndrome type VII
Nicholls A, Sher J, Wright M, Oley C, MUELLER R, Pope F
J Med Genet . 2000 Nov; 37(11):E33. PMID: 11073542
No abstract available.
3.
A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II
Richards A, Martin S, Nicholls A, Harrison J, Pope F, Burrows N
J Med Genet . 1998 Oct; 35(10):846-8. PMID: 9783710
Ehlers-Danlos syndrome (EDS) is a heterogeneous group of connective tissue disorders. Recently mutations have been found in the genes for type V collagen in a small number of people with...
4.
A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British families
Burrows N, Nicholls A, Richards A, Luccarini C, Harrison J, Yates J, et al.
Am J Hum Genet . 1998 Jul; 63(2):390-8. PMID: 9683580
Ehlers-Danlos syndrome (EDS) is a heterogeneous group of connective-tissue disorders characterized by skin fragility, joint laxity, and skeletal deformities. Type V collagen appears to have a causal role in EDS...
5.
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 N, Nicholls A, Yates J, Richards A, Pope F
Clin Exp Dermatol . 1997 Jul; 22(4):174-6. PMID: 9499606
To investigate the role of COL5A1 as a candidate gene for Ehlers-Danlos syndrome (EDS), we have carried out linkage studies in two large British families with EDS type I/II and...
6.
Parental mosaicism and autosomal dominant mutations causing structural abnormalities of collagen I are frequent in families with osteogenesis imperfecta type III/IV
Lund A, Nicholls A, Schwartz M, Skovby F
Acta Paediatr . 1997 Jul; 86(7):711-8. PMID: 9240878
Protein-chemical and molecular studies were conducted on all osteogenesis imperfecta (OI) type III/IV patients referred to our hospital during the last 15 y. Of a total of 16 OI type...
7.
An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome
Nicholls A, Oliver J, McCarron S, Harrison J, Greenspan D, Pope F
J Med Genet . 1996 Nov; 33(11):940-6. PMID: 8950675
The Ehlers-Danlos syndrome (EDS) is a heterogeneous group of inherited connective tissue disorders characterised by skin hyperextensibility, joint hypermobility, easy bruising, and cutaneous fragility. Nine discrete clinical subtypes have been...
8.
COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture
Pope F, Narcisi P, Nicholls A, Germaine D, Pals G, Richards A
Br J Dermatol . 1996 Aug; 135(2):163-81. PMID: 8881656
We have recently analysed by histological, protein and molecular DNA techniques 23 mutations of the collagen III gene (COL3A1), most of which cause premature arterial fragility, thin skin and variants...
9.
The gene encoding collagen alpha1(V)(COL5A1) is linked to mixed Ehlers-Danlos syndrome type I/II
Burrows N, Nicholls A, Yates J, Gatward G, Sarathachandra P, Richards A, et al.
J Invest Dermatol . 1996 Jun; 106(6):1273-6. PMID: 8752669
The Ehlers-Danlos syndrome (EDS) is a heterogeneous group of inherited connective tissue disorders in which cutaneous fragility and ligamentous laxity often combine with vascular, gastrointestinal, and skeletal deformities. There is...
10.
Splice site mutation causing deletion of exon 21 sequences from the pro alpha 2(I) chain of type I collagen in a patient with severe dentinogenesis imperfecta but very mild osteogenesis imperfecta
Nicholls A, Oliver J, McCarron S, WINTER G, Pope F
Hum Mutat . 1996 Jan; 7(3):219-27. PMID: 8829655
An eight-year-old boy was referred for dental assessment of dentinogenesis imperfecta, a full clinical examination also revealed joint hypermobility and some features of mild osteogenesis imperfecta although he had suffered...