RV Jamieson, F Munier, A Balmer, N Farrar, … - British Journal of Ophthalmology, 2003 - bjo.bmj.com Results: The cataracts present in all affected individuals were cortical, and/or
nuclear, pulverulent opacities. Corneal diameters of 10–10.25 mm were present
in two family members. Axial lengths were in the normal range. Bilateral ... Cited by 23 - Related articles - BL Direct - All 10 versions
CE Willoughby, A Shafiq, W Ferrini, LL Chan, … - Mol Vis, 2005 - molvis.org Methods: Family history and clinical data were recorded. This phenotype was
linked to a 7.6 cM region of chromosome 22q11.2-q12.2, spanning the
β-crystallin gene cluster (Z Max of 3.91 for marker D22S1114 at θ=0). ... Cited by 18 - Related articles - Cached - All 5 versions
RR Devi, P Vijayalakshmi - Mol Vis, 2006 - molvis.org Methods: The coding region of GJA8 was analyzed for mutation by single strand
conformational polymorphism in 60 probands affected with congenital or
developmental cataract of which 11 probands' corneal diameter measured less ... Cited by 19 - Related articles - Cached - All 6 versions
L Hansen, H Eiberg, T Rosenberg - Mol Vis, 2007 - molvis.org Conclusions: One novel mutation affecting a known cataract gene was identified
among four unrelated individuals with presumed autosomal dominant congenital
cataract-microcornea syndrome. The MAF mutation p.Arg299Ser is the third ... Cited by 6 - Related articles - Cached - All 3 versions
RR Devi, C Reena, P Vijayalakshmi - Mol Vis, 2005 - molvis.org Results: Two novel missense mutations were identified in Cx46. The mutation in
Family 1 was characterized as R76G with a total cataract phenotype. A V28M
missense mutation was identified in family 2, the cataract phenotype varied ... Cited by 15 - Related articles - Cached - All 6 versions
F Mollica, VS Li, S Tomarchio, A Gangi, V … - Clinical genetics, 1985 - ncbi.nlm.nih.gov 1: Clin Genet. 1985 Jul;28(1):42-6. Autosomal dominant cataract and microcornea
associated with myopia in a Sicilian family. Mollica ... Cited by 16 - Related articles - All 2 versions
- ►iovs.org L Hansen, W Yao, H Eiberg, KW Kjaer, K … - Investigative Ophthalmology & Visual Science, 2007 - ARVO 1 From the Wilhelm Johannsen Centre for Functional Genome Research and 2
Department G, Institute of Medical Biochemistry and Genetics, and Panum
Institute, University of Copenhagen, Copenhagen, Denmark; the 3 Section on ... Cited by 19 - Related articles - BL Direct - All 2 versions
F Beby, C Commeaux, M Bozon, P Denis, P … - Archives of Ophthalmology, 2007 - Am Med Assoc You are seeing this message because your Web browser does not support basic Web
standards. Find out more about why this message is appearing and what you can do
to make your experience on this site better. ... Objective To describe a ... Cited by 12 - Related articles - BL Direct - All 4 versions
RC Polomeno, C Cummings - Canadian journal of ophthalmology. Journal canadien …, 1979 - ncbi.nlm.nih.gov 1: Can J Ophthalmol. 1979 Oct;14(4):227-9. Autosomal dominant cataracts and
microcornea. Polomeno RC, Cummings C. Mesh Terms: Adolescent; ... Cited by 12 - Related articles
V Vanita, D Singh, PN Robinson, K Sperling, … - American journal of medical genetics. Part A, 2006 - interscience.wiley.com Congenital cataract, a clinically and genetically highly heterogeneous eye
disorder, is one of the significant causes of visual impairment or blindness in
children. It is frequently inherited as an autosomal dominant trait. We ... Cited by 31 - Related articles - BL Direct - All 5 versions
