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Scholar Results 1 - 10 of about 101 related to Cobb: Rapid mutation detection by the transgenomic wave analyser DHPLC identifies MYOC mutations.... (0.12 sec) 

Rapid mutation detection by the transgenomic wave analyser DHPLC identifies MYOC …


CJ Cobb, G Scott, RJ Swingler, S Wilson, J … - British Journal of Ophthalmology, 2002 - bjo.bmj.com
Results: Mutations were identified by DNA sequencing in four families. MYOC
mutation Q368X was found in three kindreds and the fourth family carried the
mutation G367R. The Q368X mutation was found to be associated with the same ...
Cited by 26 - Related articles - BL Direct - All 7 versions

Prevalence of myocilin mutations in adults with primary open-angle glaucoma in Ghana, …


P Challa, LW Herndon, MA Hauser, BW … - Journal of Glaucoma, 2002 - journals.lww.com
*P. Challa, MD, *LW Herndon, MD, *†MA Hauser, PhD, *BW Broomer, CCRP, *†MA
Pericak-Vance, PhD, ‡Ben Ababio-Danso, MD, and *RR Allingham, MD ...
*Departments of Ophthalmology and Medicine, †Section of Medical Genetics, ...
Cited by 17 - Related articles - BL Direct - All 2 versions

MYOC mutation frequency in primary open-angle glaucoma patients from Western …


A Mataftsi, F Achache, E Heon, A Mermoud, P … - Ophthalmic Genetics, 2001 - informahealthcare.com
Abstract Purpose: To determine MYOC gene mutation frequency in patients with
primary open-angle glaucoma (POAG) from Western Switzerland. Methods: A total of
117 unselected index patients with primary open-angle glaucoma were ...
Cited by 13 - Related articles - BL Direct - All 5 versions

The Taa1 restriction enzyme provides a simple means to identify the Q368STOP mutation of …


PN Baird, J Dickinson, JE Craig, DA Mackey - American journal of ophthalmology, 2001 - Elsevier
PURPOSE: To identify a rapid and reliable method to detect the Glutamine 368
STOP (Q368STOP) disease–predisposing allele of the myocilin gene associated
with adult onset, primary, open-angle glaucoma. ... METHODS: Individuals ...
Cited by 11 - Related articles - BL Direct - All 9 versions

The Gly367Arg mutation in the myocilin gene causes adult-onset primary open-angle …


F Taniguchi, Y Suzuki, S Shirato, M Araie - Japanese journal of ophthalmology - ncbi.nlm.nih.gov
PURPOSE: To present the phenotype of a family whose members showed the Gly367Arg
mutation in the myocilin gene and developed primary open-angle glaucoma (POAG).
METHODS: The proband developed POAG when she was 45 years old. Examination ...
Cited by 19 - Related articles - BL Direct - All 3 versions

Investigation of the prevalence of the myocilin Q368STOP mutation in Ugandan glaucoma …


MM Sale, LM FitzGerald, K Kagame, I Erdmann … - Ophthalmic Genetics, 2002 - informahealthcare.com
Mutations of the myocilin gene at the GLC1A locus on chromosome 1q21–31 have
been shown to cause juvenile open angle glaucoma (JOAG) and 2–4% of primary
open angle glaucoma (POAG). Myocilin encodes a 57-kD protein; its function ...
Cited by 6 - Related articles - BL Direct - All 4 versions

Myocilin Gln368stop mutation and advanced age as risk factors for late-onset primary open …


A Angius, P Spinelli, G Ghilotti, G Casu, G … - Archives of Ophthalmology, 2000 - archopht.highwire.org
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Cited by 39 - Related articles - BL Direct - All 3 versions

[CITATION] Nucleoprotein photo-cross-linking using halopyrimidine-substituted RNAs.


KM Meisenheimer, PL Meisenheimer, TH … - Methods in enzymology, 2000 - ncbi.nlm.nih.gov
1: Methods Enzymol. 2000;318:88-104. Nucleoprotein photo-cross-linking using
halopyrimidine-substituted RNAs. Meisenheimer KM, Meisenheimer PL, Koch TH. ...
Cited by 31 - Related articles - BL Direct

Myocilin mutations in a population-based sample of cases with open-angle glaucoma: the …


CA Hulsman, PT de Jong, M Lettink, CM van … - Graefe's archive for clinical and experimental …, 2002 - Springer
Abstract Purpose: To investigate the prevalence of myocilin (MYOC) mutations in
a population-based sample of open-angle glaucoma (OAG) cases and to describe a
fami- ly with both juvenile and adult onset OAG caused by a mutation in ...
Cited by 7 - Related articles - BL Direct - All 4 versions

Anti-L-selectin oligonucleotide ligands recognize CD62L-positive leukocytes: binding affinity …


S Ringquist, D Parma - Cytometry Part B: Clinical Cytometry - interscience.wiley.com
Oligonucleotide aptamers generated against purified LS-Rg, a human
L-selectin/IgG fusion protein, bound human CD62L-positive leukocytes. FACS
analysis of lymphocytes or neutrophils stained with fluorescently labeled ...
Cited by 32 - Related articles - BL Direct - All 3 versions


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