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Informazioni Scientifiche > Riferimenti Autori

1) Willoughby CE, Shafiq A, Chan LLY, Billingsley G, Priston M, Chandna A, Kaye S, Héon E. CRYBB1 mutation associated with congenital cataract and microcornea. Mol Vis. 2005; 11:587-93.

2) Willoughby CE, Chan LLY, Herd S, Billingsley G, Noordeh N, Levin A, Buys Y, Trope G, Sarfarazi M, Héon E. Defining the Pathogenicity of Optineurin in Juvenile Open Angle Glaucoma. Investigative Ophthalmology and Visual Science 2004; 45(9): 3122-3130.

3) Wong GAE, Willoughby CE, Parslew R, Kaye SB. Importance of Screening for Sight-Threatening Retinopathy in Incontinentia Pigmenti. Paediatric Dermatology 2004; 21(3):242-245.

4) Willoughby CE, Arab S, Gandi R, Zeinal S, Arab S, Billingsley G, Héon E.  A novel R23T mutation in GJA8 encoding connexin 50 in an Iranian family with autosomal dominant congenital cataract. Journal of Medical Genetics 2003; 40:e124.

5) Kaye SB, Rao PG, Smith G, Scott JA, Hoyles S, Morton CE, Willoughby CE, Batterbury M, Harvey G. Simplifying Collection of Corneal Specimens in Cases of Suspected Bacterial Keratitis. Journal of Clinical Microbiology 2003; 41(7):3192-3197.

6) Richard G, Rouan F, Willoughby CE, Brown N, Chung P, Ryynänen M, Jabs EW, Bale SJ, DiGiovanna JJ, Uitto J, Russell L. Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia Keratitis-Ichthyosis-Deafness syndrome. American Journal of Human Genetics 2002; 70: 1341-1348.

7) Hamada T, Chan I, Willoughby C, Goudie DR, McGrath JA.  Common mutations in Arg304 of the p63 gene in Ectrodactyly, Ectodermal Dysplasia, Clefting syndrome: Lack of genotype-phenotype correlation and implications for mutation detection strategies. Journal of Investigative Dermatology 2002; 119(5):1202-1203.

8) South AP, Ashton GHS, Willoughby C, Ellis I, Bleck O, Hamada T, Mannion G, Wessagowit V, Hashimoto T, Eady RAJ, McGrath JA.  Heterozygous R279H mutation in the p63 gene and DNA-based antenatal diagnosis of EEC syndrome. British Journal of Dermatology 2002; 146:216-220.

9) Willoughby CE, Baker K, Kaye SB, Carey P, O'Donnell N, Field A, Longman L, Bucknall R, Hart CA. Epstein-Barr virus (types 1 and 2) in the tear film in Sjogren's syndrome and HIV infection. Journal of Medical Virology 2002; 68:378-383.

10) Willoughby CE, Wishart PK. Lensectomy in the Management of Glaucoma in Spherophakia. Journal of Cataract and Refractive Surgery 2002; 28:1061-1064.
Willoughby CE, Kaye SB. Batterbury M. Corneal Collagen Shields. Survey of Ophthalmology 2002; 47(2):174-182.

11) Kaye SB, Simms G, Willoughby C, Field AE, Longman L, Brown MC. Modification of the tear function index and its use in the diagnosis of Sjogren's syndrome. British Journal of Ophthalmology 2001; 85:193-199.

 
 
 
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