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Scholar Results 1 - 10 of about 55 citing Wirth: Aetiology of congenital and paediatric cataract in an Australian population. (0.10 sec) 

The genetics of childhood cataract

- bmj.com
PJ Francis, V Berry, SS Bhattacharya, AT … - British Medical Journal, 2000 - jmg.bmj.com
Classification of human inherited cataract is difficult because of the wide
variation in morphologies observed. 5 The lens develops by the formation of an
embryonic nucleus during morphogenesis, around which lens fibres are ...
Cited by 104 - Related articles - BL Direct - All 10 versions

Molecular genetic basis of inherited cataract and associated phenotypes


MA Reddy, PJ Francis, V Berry, SS … - Survey of ophthalmology, 2004 - Elsevier
Congenital cataract is a leading cause of visual disability in children.
Inherited isolated (non-syndromic) cataract represents a significant proportion
of cases and recently many causative genetic mutations have been ...
Cited by 92 - Related articles - All 12 versions

Investigation of crystallin genes in familial cataract, and report of two disease associated …


KP Burdon, MG Wirth, DA Mackey, IM Russell- … - British Journal of Ophthalmology, 2004 - bjo.bmj.com
Methods: 38 families with autosomal dominant or recessive paediatric cataract
were examined. Three large families were studied by linkage analysis. Candidate
genes at regions providing significant LOD scores were sequenced. Single ...
Cited by 29 - Related articles - BL Direct - All 14 versions

Progressive polymorphic congenital cataract caused by a CRYBB2 mutation in a Chinese …


K Yao, X Tang, X Shentu, K Wang, H Rao, K … - Mol Vis, 2005 - molvis.org
Results: A significant two point LOD score was generated at marker D22S420,
D22S539 and D22S315 for 22q11.2. The highest observed LOD score was 6.26
(θ=0.00) with marker D22S315. Mutation screening of the CRYBB2 gene in ...
Cited by 22 - Related articles - Cached - All 6 versions

A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract …

- bmj.com
KP Burdon, MG Wirth, DA Mackey, IM Russell- … - British Medical Journal, 2004 - jmg.bmj.com
The pedigree crch13 was identified through a database maintained by the Royal
Children's Hospital, Melbourne, Australia and the Royal Victorian Eye and Ear
Hospital, Melbourne, comprising paediatric cataract patients from ...
Cited by 19 - Related articles - All 6 versions

A novel fan-shaped cataract-microcornea syndrome caused by a mutation of CRYAA in an …


V Vanita, JR Singh, JF Hejtmancik, P … - Mol Vis, 2006 - molvis.org
Conclusions: This study provides the report of mapping a locus for syndromal
cataract (cataract-microcornea syndrome) on 21q22.3. The mutation observed in
CRYAA in the present family highlights the phenotypic heterogeneity of the ...
Cited by 19 - Related articles - Cached - All 4 versions

Locus heterogeneity in autosomal recessive congenital cataracts: linkage to 9q and …


T Forshew, CA Johnson, S Khaliq, S Pasha, C … - Human genetics, 2005 - Springer
Abstract Isolated (non-syndromic) congenital cataract may be inherited as an
autosomal dominant, autosomal recessive, or X-linked recessive trait.
Considerable pro- gress has been made in identifying genes and loci for ...
Cited by 19 - Related articles - BL Direct - All 3 versions

Hereditary hyperferritinemia-cataract syndrome: prevalence, lens morphology, spectrum of …


JE Craig, JB Clark, JL McLeod, MA Kirkland, … - Archives of Ophthalmology, 2003 - archopht.highwire.org
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Cited by 16 - Related articles - BL Direct - All 4 versions

Identification of mutations in HSF4 in dogs of three different breeds with hereditary cataracts


CS Mellersh, L Pettitt, OP Forman, M Vaudin, … - Veterinary ophthalmology, 2006 - interscience.wiley.com
Cataracts are a leading cause of blindness in both dogs and humans. Mutations in
several genes have been associated with inherited forms of human cataract, but
no mutations have been identified as the cause of any form of canine ...
Cited by 14 - Related articles - BL Direct - All 3 versions

A nationwide Danish study of 1027 cases of congenital/infantile cataracts Etiological and …


B Haargaard, J Wohlfahrt, HC Fledelius, T … - Ophthalmology, 2004 - Elsevier
Cited by 14 - Related articles - All 15 versions


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