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[PDF] Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)


TA Briggs, GM Abdel-Salam, M Balicki, P … - American journal of medical genetics. Part A, 2008 - files.dinis.webnode.com
TA Briggs,1 GMH Abdel-Salam,2 M. Balicki,3 P. Baxter,4 E. Bertini,5 N. Bishop,6
BH Browne,7 D. Chitayat,3 WK Chong,8 MM Eid,9 W. Halliday,10 I. Hughes,11 A.
Klusmann-Koy,12,13 M. Kurian,14 KK Nischal,15 GI Rice,16 JBP Stephenson,17 ...
Cited by 13 - Related articles - View as HTML - BL Direct - All 4 versions

G protein-independent cell-based assays for drug discovery on seven-transmembrane …


CJ van Koppen, WM Blankesteijn, JFM Smits … - Biotechnology Annual Review, 2008 - books.google.com
253 G protein-independent cell-based assays for drug discovery on
seven-transmembrane receptors Folkert Verkaar1'2, Jos WG van Rosmalen1'2, Marion
Blomenrohr1, Chris J. van Koppen1, W. Matthijs Blankesteijn2, Jos FM Smits2 ...
Cited by 2 - Related articles - All 2 versions

Phenotypic Overlap of Familial Exudative Vitreoretinopathy (FEVR) with Persistent Fetal …


JM Robitaille, K Wallace, B Zheng, MJ Beis, … - Ophthalmic Genetics, 2009 - informahealthcare.com
Purpose: To describe a severe familial exudative vitreoretinopathy (FEVR)
phenotype seen in infancy that resembles persistent fetal vasculature (PFV)
caused by mutations in the FZD4 gene in two pedigrees with high ...
Related articles - All 6 versions

[CITATION] Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) How to cite this …


TA Briggs - American Journal of Medical Genetics Part A, 2008 - Wiley Subscription Services, Inc., A Wiley Company …
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Moderate reduction of Norrin signaling activity associated with the causative missense …


M Qin, H Kondo, T Tahira, K Hayashi - Human Genetics, 2008 - Springer
Abstract Mutations in Norrin signaling genes (NDP, FZD4 and LRP5) have been
found in patients with familial exudative vitreoretinopathy (FEVR) and the
altered signal- ing is suspected to play a critical role in its ...
Related articles - All 2 versions

Retinopathy of prematurity: is genetic predisposition an important risk factor?


P Kwinta, JJ Pietrzyk - Expert Review of Ophthalmology, 2007 - ingentaconnect.com
Retinopathy of prematurity (ROP) is the most common avoidable cause of blindness
and impaired vision among children in developed countries. It is unclear at
present why ROP progresses to severe disease in one group of very low birth- ...
Related articles - BL Direct - All 3 versions


 


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