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Scholar Results 1 - 10 of about 26 citing Cobb: Rapid mutation detection by the transgenomic wave analyser DHPLC identifies MYOC mutations.... (0.10 sec) 

Somatic Mutations and Altered Expression of the Candidate Tumor Suppressors CSNK1 { …

- aacrjournals.org
TJ Fuja, F Lin, KE Osann, PJ Bryant - Cancer Research, 2004 - AACR
We report somatic mutations in three genes (CSNK1 , encoding the Ser/Thr kinase
casein kinase I ; DLG1, encoding a membrane-associated putative scaffolding
protein; and EDD/hHYD, encoding a progestin induced putative ...
Cited by 45 - Related articles - BL Direct - All 4 versions

A decade of high-resolution liquid chromatography of nucleic acids on styrene– …


PJ Oefner, CG Huber - Journal of Chromatography B, 2002 - Elsevier
The introduction of alkylated, nonporous poly-(styrene–divinylbenzene)
microparticles in 1992 enabled the subsequent development of denaturing HPLC
that has emerged as the most sensitive screening method for mutations to ...
Cited by 27 - Related articles - All 4 versions

Evaluation and understanding of myocilin mutations in Indian primary open angle glaucoma …


J Kanagavalli, SR Krishnadas, E … - Mol Vis, 2003 - molvis.org
Methods: We analyzed DNA for mutations in 107 subjects with POAG and 90 normal
control subjects. The exonic sequences of the MYOC gene from all subjects were
amplified by Polymerase Chain Reaction (PCR). We carried out Single Strand ...
Cited by 19 - Related articles - Cached - All 5 versions

Analysis of 15 primary open-angle glaucoma families from Australia identifies a founder …


PN Baird, JE Craig, AJ Richardson, MA Ring, … - Human genetics, 2003 - Springer
Abstract Primary open-angle glaucoma (POAG) is a leading cause of blindness in
the world. A number of mu- tations in the myocilin gene have been identified
that pre- dispose to glaucoma. The most frequent of these is the ...
Cited by 19 - Related articles - BL Direct - All 5 versions

Detection of circulating thyroid cancer cells by reverse transcription-PCR for thyroid- …

- clinchem.org [PDF] 
MK Gupta, L Taguba, R Arciaga, A Siperstein … - Clinical Chemistry, 2002 - Am Assoc Clin Chem
A key challenge in cancer treatment and prevention is early disease detection,
thus facilitating effective thera- peutic intervention to improve quality of
life and survival. With molecular genetics playing an increasingly impor- ...
Cited by 17 - Related articles - BL Direct - All 2 versions

Mutational analysis of the Myocilin gene in patients with primary open-angle glaucoma in …


R Melki, A Idhajji, S Driouiche, MI Hassani … - Ophthalmic Genetics, 2003 - informahealthcare.com
Abstract Purpose: To investigate the Myocilin (MYOC) gene for mutations and
polymorphisms in patients with primary open-angle glaucoma (POAG) in Morocco.
Methods: Fifty-seven patients with severe POAG, who suffered from complete ...
Cited by 16 - Related articles - BL Direct - All 4 versions

Myocilin analysis by DHPLC in French POAG patients: increased prevalence of Q368X …


R Melki, A Belmouden, A Brezin, HJ Garchon - Human Mutation, 2003 - interscience.wiley.com
Primary open-angle glaucoma (POAG) is a prevalent optic neuropathy with complex
genetics. A small number of patients carry a mutation in the coding region of
the myocilin (MYOC) gene. The nature and the frequency of these mutations, ...
Cited by 13 - Related articles - BL Direct - All 2 versions

Low prevalence of MYOC mutations in UK primary open-angle glaucoma patients limits the …


MA Aldred, L Baumber, A Hill, EC Schwalbe, … - Human genetics, 2004 - Springer
Page 1. Hum Genet (2004) 115: 428–431 DOI 10.1007/s00439-004-1171-1 ORIGINAL
INVESTIGATION Micheala A. Aldred . Laura Baumber . Alison Hill . ...
Cited by 10 - Related articles - BL Direct - All 9 versions

Genetic analysis of an Indian family with members affected with juvenile-onset primary …


M Markandaya, TK Ramesh, V Selvaraju, SK … - Ophthalmic Genetics, 2004 - informahealthcare.com
Abstract Purpose: Glaucoma is the second leading cause of blind- ness. In India,
~1.5 million people are blind due to glaucoma. Muta- tions in the MYOC gene
located at the GLC1A locus on chromosome 1q21–q31 have been found in ...
Cited by 6 - Related articles - BL Direct - All 5 versions

A common disease haplotype for the Q368STOP mutation of the myocilin gene in …


PN Baird, AJ Richardson, DA Mackey, JE … - American journal of ophthalmology, 2005 - Elsevier
A disease haplotype for the Q368STOP mutation of the myocilin gene has
previously been identified in 15 Tasmanian families with POAG. The four
microsatellite markers that constitute this 0.14-megabase (Mb) disease ...
Cited by 5 - Related articles - All 15 versions


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