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Journal Articles

in Genetic Disorders
 161-180 of 188 Articles
Editorial |  June 13, 2001
Genetic Susceptibility to Breast Cancer:  From the Roll of the Dice to the Hand Women Were Dealt
Katrina Armstrong, MD, MSc
JAMA. 2001;285(22):2907-2909. doi:10.1001/jama.285.22.2907.
Academic Alert |  May 02, 2001
Cystic Fibrosis Treatment Trial
JAMA. 2001;285(17):2185. doi:10.1001/jama.285.17.2185.
Grand Rounds |  May 02, 2001
The Multifaceted Challenges of Proteus Syndrome
Leslie G. Biesecker, MD
JAMA. 2001;285(17):2240-2243. doi:10.1001/jama.285.17.2240.
Original Contribution |  May 02, 2001 FREE
Prevalence of C282Y and H63D Mutations in the Hemochromatosis (HFE) Gene in the United States
Karen K. Steinberg, PhD; Mary E. Cogswell, DrPH; Joy C. Chang, PhD; et al.
JAMA. 2001;285(17):2216-2222. doi:10.1001/jama.285.17.2216.
Medical News and Perspectives |  April 25, 2001
Advances in Pediatric Dermatology
JAMA. 2001;285(16):2065-2067. doi:10.1001/jama.285.16.2065.
Review |  February 28, 2001 FREE
Second-Trimester Ultrasound to Detect Fetuses With Down Syndrome:  A Meta-analysis
Rebecca Smith-Bindman, MD; Wylie Hosmer, BS; Vickie A. Feldstein, MD; et al.
JAMA. 2001;285(8):1044-1055. doi:10.1001/jama.285.8.1044.
JAMA Patient Page |  February 28, 2001 FREE
Down Syndrome
JAMA. 2001;285(8):1112. doi:10.1001/jama.285.8.1112.
Research Opportunities for Specific Diseases and Disorders |  February 07, 2001 FREE
Prospects for Research in Hematologic Disorders:  Sickle Cell Disease and Thalassemia
William C. Mentzer, MD; Yuet Wai Kan, MD
JAMA. 2001;285(5):640-642. doi:10.1001/jama.285.5.640.
Medical News and Perspectives |  January 10, 2001
New Therapies Show Promise for Patients With Leukemia, Hemophilia, and Heart Disease
JAMA. 2001;285(2):153-155. doi:10.1001/jama.285.2.153.
msJAMA |  January 03, 2001 FREE
On the CoverDeveloping Tolerance for AmbiguityDiagnosing and Defining DiseaseGenetic Disease, Genetic Testing, and the ClinicianIn the Twilight: Life in the Margins Between Sick and WellThe Sick Role in Literature and Society
JAMA. 2001;285(1):87-88. doi:10.1001/jama.285.1.87.
JAMA Patient Page |  October 11, 2000 FREE
Cystic Fibrosis
JAMA. 2000;284(14):1884. doi:10.1001/jama.284.14.1884.
From the Centers for Disease Control and Prevention |  September 20, 2000 FREE
Update: Newborn Screening for Sickle Cell Disease—California, Illinois, and New York, 1998
JAMA. 2000;284(11):1373-1374. doi:10.1001/jama.284.11.1373.
Editorial |  July 21, 1999
Molecular Diagnosis of Hereditary Nonpolyposis Colorectal Cancer
Timothy J. O'Leary, MD, PhD
JAMA. 1999;282(3):281-282. doi:10.1001/jama.282.3.281.
Original Contribution |  July 21, 1999 FREE
Interpretation of Genetic Test Results for Hereditary Nonpolyposis Colorectal Cancer:  Implications for Clinical Predisposition Testing
Sapna Syngal, MD, MPH; Edward A. Fox, PhD; Christine Li, MD; et al.
JAMA. 1999;282(3):247-253. doi:10.1001/jama.282.3.247.
Clinical Investigation |  June 09, 1999 FREE
Impairment of Endothelial Functions by Acute Hyperhomocysteinemia and Reversal by Antioxidant Vitamins
Francesco Nappo, MD, PhD; Nicoletta De Rosa, MD, PhD; Raffaele Marfella, MD, PhD; et al.
JAMA. 1999;281(22):2113-2118. doi:10.1001/jama.281.22.2113.
Original Contribution |  June 02, 1999 FREE
Differences in Preferences for Neonatal Outcomes Among Health Care Professionals, Parents, and Adolescents
Saroj Saigal, MD, FRCP; Barbara L. Stoskopf, RN, MHSc; David Feeny, PhD; et al.
JAMA. 1999;281(21):1991-1997. doi:10.1001/jama.281.21.1991.
Original Contribution |  May 12, 1999 FREE
First Unaffected Pregnancy Using Preimplantation Genetic Diagnosis for Sickle Cell Anemia
Kangpu Xu, PhD; Zhong Ming Shi, MD; Lucinda L. Veeck, MLT, DSc; et al.
JAMA. 1999;281(18):1701-1706. doi:10.1001/jama.281.18.1701.
JAMA Patient Page |  May 12, 1999 FREE
Facts about sickle cell anemia
JAMA. 1999;281(18):1768. doi:10.1001/jama.281.18.1768.
Original Contribution |  May 05, 1999 FREE
Genetic Testing in Families With Hereditary Nonpolyposis Colon Cancer
Caryn Lerman, PhD; Chanita Hughes, PhD; Bruce J. Trock, PhD; et al.
JAMA. 1999;281(17):1618-1622. doi:10.1001/jama.281.17.1618.
Editorial |  April 21, 1999
Thanking Reviewers, Acknowledging Authors, and Serving the Needs of Readers
Phil B. Fontanarosa, MD; Richard M. Glass, MD
JAMA. 1999;281(15):1434-1435. doi:10.1001/jama.281.15.1434.

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From The JAMA Network
JAMA Ophthalmology
Clinical Sciences  |  May 16, 2013
Phenotypic Conservation in Patients With X-Linked Retinitis Pigmentosa Caused by RPGR Mutations
Sarwar Zahid, MD, MS; Naheed Khan, PhD; Kari Branham, MS; et al.
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TRIM Proteins in Therapeutic Membrane Repair of Muscular Dystrophy
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Treatment With 9- cis β-Carotene–Rich Powder in Patients With Retinitis Pigmentosa:  A Randomized Crossover Trial
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JAMA Internal Medicine
Viewpoint  |  May 6, 2013
Two New Drugs for Homozygous Familial Hypercholesterolemia:  Managing Benefits and Risks in a Rare Disorder
Robert J. Smith, MD; William R. Hiatt, MD
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