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Journal Articles

in Genetic Disorders
 21-40 of 188 Articles
Research Letters |  March 28, 2012 FREE
Mortality in Adults With Sickle Cell Disease and Pulmonary Hypertension
Alem Mehari, MD; Mark T. Gladwin, MD; Xin Tian, PhD; et al.
JAMA. 2012;307(12):1254-1256. doi:10.1001/jama.2012.358.
Preliminary Communication |  March 28, 2012 FREE
Electrophysiological Study With Prophylactic Pacing and Survival in Adults With Myotonic Dystrophy and Conduction System Disease
Karim Wahbi, MD; Christophe Meune, MD; Raphaël Porcher, PhD; et al.
JAMA. 2012;307(12):1292-1301. doi:10.1001/jama.2012.346.
INCLUDES: , Supplemental Content
Preliminary Communication |  March 14, 2012 FREE
Association of Age at Diagnosis and Genetic Mutations in Patients With Neuroblastoma
Nai-Kong V. Cheung, MD, PhD; Jinghui Zhang, PhD; Charles Lu, PhD; et al.
JAMA. 2012;307(10):1062-1071. doi:10.1001/jama.2012.228.
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Medical News and Perspectives |  February 08, 2012
NIH Program Helps Developers Navigate Path to New Drugs for Neglected Diseases
Rebecca Voelker
JAMA. 2012;307(6):549-550. doi:10.1001/jama.2012.83.
Editorial |  January 04, 2012
The Debut of Viewpoints and Other New Developments at JAMA
Howard Bauchner, MD; Phil B. Fontanarosa, MD, MBA
JAMA. 2012;307(1):90-91. doi:10.1001/jama.2011.1958.
Global Health |  December 21, 2011
Genetic Susceptibility to Dengue
M. J. Friedrich
JAMA. 2011;306(23):2553. doi:10.1001/jama.2011.1809.
Original Contribution |  December 14, 2011 FREE
Cancer Risk Among Patients With Myotonic Muscular Dystrophy
Shahinaz M. Gadalla, MD, PhD; Marie Lund, MD; Ruth M. Pfeiffer, PhD; et al.
JAMA. 2011;306(22):2480-2486. doi:10.1001/jama.2011.1796.
INCLUDES: , Supplemental Content
JAMA Patient Page |  December 14, 2011 FREE
Muscular Dystrophy
Ann R. Punnoose, MD; Alison E. Burke, MA; Robert M. Golub, MD
JAMA. 2011;306(22):2526. doi:10.1001/jama.2011.1794.
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Health Agencies Update |  November 23, 2011
Controversial Chelator Approved
Bridget M. Kuehn
JAMA. 2011;306(20):2207. doi:10.1001/jama.2011.1699.
Original Contribution |  August 17, 2011 FREE
Efficacy and Tolerability of Pegloticase for the Treatment of Chronic Gout in Patients Refractory to Conventional Treatment:  Two Randomized Controlled Trials
JAMA. 2011;306(7):711-720. doi:10.1001/jama.2011.1169.
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Lab Reports |  August 03, 2011
Targeting Hemophilia
Tracy Hampton, PhD
JAMA. 2011;306(5):480. doi:10.1001/jama.2011.1089.
Original Contribution |  July 13, 2011 FREE
Effect of Bronchoalveolar Lavage–Directed Therapy on Pseudomonas aeruginosa Infection and Structural Lung Injury in Children With Cystic Fibrosis:  A Randomized Trial
Claire E. Wainwright, MBBS, MD; Suzanna Vidmar, BSc(Hon); David S. Armstrong, MBChB, MD; et al.
JAMA. 2011;306(2):163-171. doi:10.1001/jama.2011.954.
INCLUDES: , Supplemental Content
Capitol Health Call |  July 13, 2011
Price Gouging?
Mike Mitka
JAMA. 2011;306(2):145. doi:10.1001/jama.2011.925.
Editorial |  June 08, 2011
Cancer Risk Assessment in Lynch Syndrome:  Does the Gene Matter?
Rosa M. Xicola, PhD; Xavier Llor, MD, PhD
JAMA. 2011;305(22):2351-2352. doi:10.1001/jama.2011.771.
Original Contribution |  June 08, 2011 FREE
Cancer Risks Associated With Germline Mutations in MLH1, MSH2, and MSH6 Genes in Lynch Syndrome
Valérie Bonadona, MD, PhD; Bernard Bonaïti, MSc; Sylviane Olschwang, MD, PhD; et al.
JAMA. 2011;305(22):2304-2310. doi:10.1001/jama.2011.743.
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Research Letters |  April 20, 2011 FREE
Real-Time Myoelectric Control of Knee and Ankle Motions for Transfemoral Amputees
Levi J. Hargrove, PhD; Ann M. Simon, PhD; Robert D. Lipschutz, CP; et al.
JAMA. 2011;305(15):1542-1544. doi:10.1001/jama.2011.465.
Original Contribution |  March 02, 2011 FREE
Nitric Oxide for Inhalation in the Acute Treatment of Sickle Cell Pain Crisis:  A Randomized Controlled Trial
Mark T. Gladwin, MD; Gregory J. Kato, MD; Debra Weiner, MD, PhD; et al.
JAMA. 2011;305(9):893-902. doi:10.1001/jama.2011.235.
INCLUDES: , Supplemental Content
Medical News & Perspectives |  January 26, 2011
Scientists Find Promising Therapies for Fragile X and Down Syndromes
Bridget M. Kuehn
JAMA. 2011;305(4):344-346. doi:10.1001/jama.2010.1960.
Medical News & Perspectives |  January 12, 2011
Imaging Helps to Identify Early Changes Associated With Huntington Disease
Bridget M. Kuehn
JAMA. 2011;305(2):138. doi:10.1001/jama.2010.1924.
Editorial |  December 22, 2010
PTEN Promoter Silencing and Cowden Syndrome:  The Role of Epigenetic Regulation of KILLIN
Danijela Jelovac, MD; Ben Ho Park, MD, PhD
JAMA. 2010;304(24):2744-2745. doi:10.1001/jama.2010.1863.

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From The JAMA Network
JAMA Ophthalmology
Ophthalmic Molecular Genetics  |  June 13, 2013
Distinct Ocular Expression in Infants and Children With Down Syndrome in Cairo, Egypt:  Myopia and Heart Disease
Hanan H. Afifi, MD, PhD; Amira A. Abdel Azeem, MD; Hala T. El-Bassyouni, MD, PhD; et al.
JAMA Neurology
Original Contribution  |  June 10, 2013
Fragile X–Associated Tremor/Ataxia Syndrome:  Influence of the FMR1 Gene on Motor Fiber Tracts in Males With Normal and Premutation Alleles
Jun Yi Wang, PhD; David Hessl, PhD; Andrea Schneider, PhD; et al.
JAMA Dermatology
Off-Center Fold  |  June 5, 2013
Scleroderma-Like Hands in a 16-Year-Old Boy—Diagnosis
JAMA Neurology
Original Contribution  |  April 22, 2013
Systemic Metabolic Abnormalities in Adult-onset Acid Maltase Deficiency:  Beyond Muscle Glycogen Accumulation
Juan M. Pascual, MD, PhD; Charles R. Roe, MD
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