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Medical Genetics

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Selected Works

Department of Medicine

Articles 1 - 3 of 3

Full-Text Articles in Medicine and Health Sciences

High-Resolution Physical Map For Chromosome 16q12.1-Q13, The Blau Syndrome Locus., Xiaoju Wang, Helena Kuivaniemi, Gina Bonavita, Charlene J Williams, Gerard Tromp Dec 2017

High-Resolution Physical Map For Chromosome 16q12.1-Q13, The Blau Syndrome Locus., Xiaoju Wang, Helena Kuivaniemi, Gina Bonavita, Charlene J Williams, Gerard Tromp

Charlene Williams

BACKGROUND: The Blau syndrome (MIM 186580), an autosomal dominant granulomatous disease, was previously mapped to chromosome 16p12-q21. However, inconsistent physical maps of the region and consequently an unknown order of microsatellite markers, hampered us from further refining the genetic locus for the Blau syndrome. To address this problem, we constructed our own high-resolution physical map for the Blau susceptibility region. RESULTS: We generated a high-resolution physical map that provides more than 90% coverage of a refined Blau susceptibility region. The map consists of four contigs of sequence tagged site-based bacterial artificial chromosomes with a total of 124 bacterial artificial chromosomes, …


Community Cancer Services, Clinical Trials, And Quality Initiatives—Year 1 Ncccp At Lehigh Valley Health Network, Gregory R. Harper Md, Phd, Ada M. Rivera Ba, Eliot L. Friedman Md, Kathleen A. Leies Rn, Ocn, Nadesda Mack Rn, Bsn, Mba, Ocn, Lenore Mcgonigle Med, Suresh G. Nair Md, Tara Namey Ms, Cgc, Debbie Salas-Lopez Md, Mph, Facp, Ronald W. Swinfard Md, Facp Sep 2014

Community Cancer Services, Clinical Trials, And Quality Initiatives—Year 1 Ncccp At Lehigh Valley Health Network, Gregory R. Harper Md, Phd, Ada M. Rivera Ba, Eliot L. Friedman Md, Kathleen A. Leies Rn, Ocn, Nadesda Mack Rn, Bsn, Mba, Ocn, Lenore Mcgonigle Med, Suresh G. Nair Md, Tara Namey Ms, Cgc, Debbie Salas-Lopez Md, Mph, Facp, Ronald W. Swinfard Md, Facp

Debbie Salas-Lopez MD, MPH, FACP

No abstract provided.


Stent Placement Compared With Balloon Angioplasty For Obstructed Coronary Bypass Grafts. Saphenous Vein De Novo Trial Investigators., M P Savage, J S Douglas, D L Fischman, C J Pepine, S B King, J A Werner, S R Bailey, P A Overlie, S H Fenton, J A Brinker, M B Leon, S Goldberg Aug 2012

Stent Placement Compared With Balloon Angioplasty For Obstructed Coronary Bypass Grafts. Saphenous Vein De Novo Trial Investigators., M P Savage, J S Douglas, D L Fischman, C J Pepine, S B King, J A Werner, S R Bailey, P A Overlie, S H Fenton, J A Brinker, M B Leon, S Goldberg

Michael P Savage M.D.

BACKGROUND: Treatment of stenosis in saphenous-vein grafts after coronary-artery bypass surgery is a difficult challenge. The purpose of this study was to compare the effects of stent placement with those of balloon angioplasty on clinical and angiographic outcomes in patients with obstructive disease of saphenous-vein grafts.

METHODS: A total of 220 patients with new lesions in aortocoronary-venous bypass grafts were randomly assigned to placement of Palmaz-Schatz stents or standard balloon angioplasty. Coronary angiography was performed during the index procedure and six months later.

RESULTS: As compared with the patients assigned to angioplasty, those assigned to stenting had a higher rate …