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Scholar Results 1 - 10 of about 101 related to Ramalho: Mouse genetic corneal disease resulting from transgenic insertional mutagenesis. (0.11 sec) 

Mouse genetic corneal disease resulting from transgenic insertional mutagenesis

- nih.gov - Free from Publisher
JS Ramalho, K Gregory-Evans, C Huxley, MC … - British Journal of Ophthalmology, 2004 - bjo.bmj.com
Results: Only one transgenic line (T27aT15) exhibited an unexpected eye
phenotype. T27aT15 mice developed corneal opacities, usually unilateral, and
cataracts, resulting in some cases in phthisical eyes. Histologically, the ...
Related articles - BL Direct - All 10 versions

The changing face of the genetics of corneal dystrophies


N Siddiqui, NA Afshari - Current Opinion in Ophthalmology, 2002 - journals.lww.com
Modern molecular genetics has had a profound effect on our understanding of
corneal dystrophies. Mutations in the BIGH3 gene are responsible for four
autosomal dominant corneal dystrophies. The mutation spectrum reveals the ...
Cited by 5 - Related articles - BL Direct - All 3 versions

Transgenic models for eye malformations


W Götz - Ophthalmic Genetics, 1995 - informahealthcare.com
Abstract Several lines of transgenic mice developing eye malformations have been
described in the literature and appear to be of increasing interest for the
study of eye teratology in humans, since gene expression and regula- tion ...
Cited by 5 - Related articles - BL Direct - All 3 versions

Rapid degradation of dominant-negative Rab 27 proteins in vivo precludes their use in …


JS Ramalho, R Anders, GB Jaissle, MW … - BMC Cell Biology, 2002 - biomedcentral.com
Transgenic mice have proven to be a powerful system to study normal and
pathological gene functions. Here we describe an attempt to generate a
transgenic mouse model for choroideremia (CHM), a slow-onset X-linked ...
Cited by 7 - Related articles - Cached - All 7 versions

[CITATION] Diseases of the Cornea


RC Arffa - London: Mosby, 1991
Cited by 16 - Related articles

Mouse models of congenital cataract


J Graw - Eye(London. 1987), 1999 - cat.inist.fr
Mouse mutants affecting lens development are excellent models for corresponding
human disorders. The mutant aphakia has been characterised by bilaterally
aphakic eyes(Varnum and Stevens, J Hered 1968; 59: 147-50); the ...
Cited by 18 - Related articles - BL Direct - All 2 versions

A clinical, histopathological, and genetic study of Avellino corneal dystrophy in British …

- bmj.com [PDF] 
MF El-Ashry, A El-Aziz, DFP Larkin, B Clarke … - British Medical Journal, 2003 - jmg.bmj.com
Page 1. doi:10.1136/jmg.40.8.596 2003;40;596 J. Med. Genet. Bhattacharya
and ND Ebenezer MF El-Ashry, MM Abd El-Aziz, DFP Larkin, B ...
Cited by 14 - Related articles - BL Direct - All 12 versions

An R124C mutation in TGFBI caused lattice corneal dystrophy type I with a variable …


Z Liu, Y Wang, Q Gong, L Xie - Molecular Vision, 2008 - pubmedcentral.nih.gov
The eyes of the patients were examined by slit lamp microscopy, and other
clinical records were also collected. Genomic DNA was extracted from peripheral
leukocytes of the affected patients and their family members. Exons of the ...
Cited by 1 - Related articles - All 6 versions

Linkage Mapping of Thiel–Behnke Corneal Dystrophy (CDB2) to Chromosome 10q23–q24


RW Yee, LS Sullivan, HT Lai, EL Stock, Y Lu … - Genomics, 1997 - Elsevier
Corneal dystrophy of the anterior basement membrane is a heterogeneous set of
diseases characterized by painful, recurrent, bilateral erosions of the cornea,
which often result in significant visual impairment. There are several ...
Cited by 30 - Related articles - BL Direct - All 5 versions

In Vitro Creation of Amyloid Fibrils from Native and Arg124Cys Mutated βIGH3 (110–131) …


CF Schmitt-Bernard, A Chavanieu, J Derancourt … - Biochemical and Biophysical Research …, 2000 - Elsevier
Cited by 12 - Related articles - BL Direct - All 4 versions


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