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Scholar Results 1 - 10 of 10 citing Rahi: Ascertainment of children with congenital cataract through the National Congenital.... (0.09 sec) 

Evidence of clinical and genetic heterogeneity in autosomal dominant congenital cerulean …


L Hilal, E Nandrot, M Belmekki, M Chefchaouni … - Ophthalmic Genetics, 2002 - informahealthcare.com
Abstract Autosomal dominant cerulean cataracts (ADCC) have previously been
mapped to two loci: one on chromosome 17q24 and the other on chromosome
22q11.2–q12.2, which includes the b-B2 crys- tallin (CRYBB2) candidate ...
Cited by 6 - Related articles - BL Direct - All 4 versions

Clinical variability of autosomal dominant cataract, microcornea and corneal opacity and …


S Brown, L Nguyen, J Turner, MA Spence, JB … - American Journal of Medical Genetics Part A, 2008 - interscience.wiley.com
It is also possible that your web browser is not configured or not able to
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Cited by 3 - Related articles - BL Direct - All 3 versions

A heterozygous c-Maf transactivation domain mutation causes congenital cataract and …

- oxfordjournals.org
R Perveen, J Favor, RV Jamieson, DW Ray, G … - Human Molecular Genetics, 2007 - Oxford Univ Press
MAF, one of a family of large Maf bZIP transcription factors, is mutated in
human developmental ocular disorders that include congenital cataract,
microcornea, coloboma and anterior segment dysgenesis. Expressed early in ...
Cited by 4 - Related articles - BL Direct - All 5 versions

Congenital cataract as the first symptom of a neuromuscular disease caused by a novel …


J Bene, E Nádasi, G Kosztolányi, K Méhes, B … - European Journal of Human Genetics, 2003 - nature.com
The male proband reported here was born with appropriate anthropometric
parameters at term as the second child of healthy nonconsanguineous parents. His
only clinical symptom was bilateral congenital cataracts with strabismus at ...
Cited by 2 - Related articles - BL Direct - All 4 versions

先天性白内障病因的多因素分析


李卫红, 张新媛, 云波, 许桂花, 宋琦 - 眼科, 2004 - cqvip.com
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Cited by 3 - Related articles - All 4 versions

Cataract surgery and primary intraocular lens implantation in children≤ 2 years old in the …


AL Solebo, I Russell-Eggitt, KK Nischal, AT … - British Journal of Ophthalmology, 2009 - bjo.bmj.com
Results: 76% of 928 surveyed ophthalmologists replied. 47 (7%) of the
respondents operated on children aged ≤2 with cataract. 41 (87%) of
respondents performed primary IOL implantation, but 25% would not implant ...
Related articles - All 2 versions

Evidence of clinical and genetic heterogeneity in autosomal dominant congenital cerulean …


E Nandrot, M Belmekki, M Chefchaouni, S El … - Ophthalmic Genetics, 2002 - Informa Pharma Science
Abstract Autosomal dominant cerulean cataracts (ADCC) have previously been
mapped to two loci: one on chromosome 17q24 and the other on chromosome
22q11.2–q12.2, which includes the b-B2 crys- tallin (CRYBB2) candidate ...
Related articles

[PDF] An Assessment and Analysis of Surveillance Data on Hypospadias in Europe


CA Newtownabbey - eurocat.ulster.ac.uk
Page 1. 1 Supported by the EU-Commission Public Health Directorate Programme
of Community Action on Rare Diseases WHO Collaborating ...
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[CITATION] Clinical variability of autosomal dominant cataract, microcornea and corneal opacity and …


L Richter - American Journal of Medical Genetics Part A, 2008 - Wiley Subscription Services, Inc., A Wiley Company …
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Cataract surgery and primary intraocular lens implantation in children<= 2 years old in the …


AL Solebo, I Russell-Eggitt, KK Nischal, AT … - British Medical Journal, 2009 - bjo.bmj.com
1. MRC Centre of Epidemiology for Child Health, UCL Institute of Child Health,
London, United Kingdom (UK) 2. Ulverscroft Vision Research Group, UCL Institute
of Child Health, London, UK 3. Clinical and Academic Department of ...
Related articles - All 2 versions


 


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