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Journal Articles

in Genetic Disorders
 101-120 of 188 Articles
The World in Medicine |  December 20, 2006
Muscular Dystrophy Advance
JAMA. 2006;296(23):2791. doi:10.1001/jama.296.23.2791-a.
Clinical Review |  September 27, 2006 FREE
Recommendations for the Care of Individuals With an Inherited Predisposition to Lynch Syndrome:  A Systematic Review
Noralane M. Lindor, MD; Gloria M. Petersen, PhD; Donald W. Hadley, MS, CGC; et al.
JAMA. 2006;296(12):1507-1517. doi:10.1001/jama.296.12.1507.
INCLUDES: CME
Original Contribution |  September 27, 2006 FREE
Prediction of MLH1 and MSH2 Mutations in Lynch Syndrome
Judith Balmaña, MD; David H. Stockwell, MD, MPH; Ewout W. Steyerberg, PhD; et al.
JAMA. 2006;296(12):1469-1478. doi:10.1001/jama.296.12.1469.
Original Contribution |  September 27, 2006 FREE
Prediction of Germline Mutations and Cancer Risk in the Lynch Syndrome
Sining Chen, PhD; Wenyi Wang, MA; Shing Lee, ScM; et al.
JAMA. 2006;296(12):1479-1487. doi:10.1001/jama.296.12.1479.
Original Contribution |  July 19, 2006 FREE
N-Terminal Pro-Brain Natriuretic Peptide Levels and Risk of Death in Sickle Cell Disease
Roberto F. Machado, MD; Anastasia Anthi, MD; Martin H. Steinberg, MD; et al.
JAMA. 2006;296(3):310-318. doi:10.1001/jama.296.3.310.
Medical News and Perspectives |  May 03, 2006
Drug Shows Promise for Marfan Syndrome
JAMA. 2006;295(17):1987-1990. doi:10.1001/jama.295.17.1990.
Medical News and Perspectives |  February 22, 2006
Gene Discovery Speeds Progeria Research
JAMA. 2006;295(8):876-878. doi:10.1001/jama.295.8.876.
Editorial |  November 16, 2005
Unwinding the Heterogeneous Nature of Hamartomatous Polyposis Syndromes
John M. Carethers, MD
JAMA. 2005;294(19):2498-2500. doi:10.1001/jama.294.19.2498.
Original Contribution |  November 02, 2005 FREE
History and Molecular Genetics of Lynch Syndrome in Family G:  A Century Later
Julie A. Douglas, PhD; Stephen B. Gruber, MD, PhD; Karen A. Meister, MS, CGC; et al.
JAMA. 2005;294(17):2195-2202. doi:10.1001/jama.294.17.2195.
Health Agencies Update |  October 26, 2005
Cancer Drug and Progeria
JAMA. 2005;294(16):2016. doi:10.1001/jama.294.16.2016-a.
Medical News and Perspectives |  October 12, 2005
Genes Help Unravel Marfan Pathology, Point Way to Potential New Therapies
JAMA. 2005;294(14):1745-1746. doi:10.1001/jama.294.14.1745.
Lab, Field, and Clinic |  October 05, 2005
Robert Langer, ScD—Engineering Medicine
JAMA. 2005;294(13):1609-1610. doi:10.1001/jama.294.13.1609.
Original Contribution |  July 06, 2005 FREE
Dysregulated Arginine Metabolism, Hemolysis-Associated Pulmonary Hypertension, and Mortality in Sickle Cell Disease
Claudia R. Morris, MD; Gregory J. Kato, MD; Mirjana Poljakovic, PhD; et al.
JAMA. 2005;294(1):81-90. doi:10.1001/jama.294.1.81.
Editorial |  April 27, 2005
Progress in Genetic Testing, Classification, and Identification of Lynch Syndrome
Hans F. A. Vasen, MD; C. Richard Boland, MD
JAMA. 2005;293(16):2028-2030. doi:10.1001/jama.293.16.2028.
Lab, Field, and Clinic |  April 27, 2005
Nanoscale Biosensors Show Promise
JAMA. 2005;293(16):1965. doi:10.1001/jama.293.16.1965.
Original Contribution |  April 27, 2005 FREE
Accuracy of Revised Bethesda Guidelines, Microsatellite Instability, and Immunohistochemistry for the Identification of Patients With Hereditary Nonpolyposis Colorectal Cancer
Virgínia Piñol, MD; Antoni Castells, MD; Montserrat Andreu, MD; et al.
JAMA. 2005;293(16):1986-1994. doi:10.1001/jama.293.16.1986.
Clinical Review |  April 06, 2005 FREE
The Clinical Sequelae of Intravascular Hemolysis and Extracellular Plasma Hemoglobin:  A Novel Mechanism of Human Disease
Russell P. Rother, PhD; Leonard Bell, MD; Peter Hillmen, MB, PhD; et al.
JAMA. 2005;293(13):1653-1662. doi:10.1001/jama.293.13.1653.
INCLUDES: CME
Preliminary Communication |  February 16, 2005 FREE
Detection of Paternally Inherited Fetal Point Mutations for β-Thalassemia Using Size-Fractionated Cell-Free DNA in Maternal Plasma
Ying Li, PhD; Edoardo Di Naro, MD; Angeloantonio Vitucci, MD; et al.
JAMA. 2005;293(7):843-849. doi:10.1001/jama.293.7.843.
The World inMedicine |  February 16, 2005
Culturing Blood
JAMA. 2005;293(7):790. doi:10.1001/jama.293.7.790-c.
Medical News and Perspectives |  January 19, 2005
Down Syndrome Protein Deters Cancer
JAMA. 2005;293(3):281-285. doi:10.1001/jama.293.3.284.

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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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