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Journal Articles

in Genetics
 141-160 of 3626 Articles
JAMA Neurology | 
Original Contribution |  January 01, 2013
Using Exome Sequencing to Reveal Mutations in TREM2 Presenting as a Frontotemporal Dementia–like Syndrome Without Bone Involvement
Rita João Guerreiro, PhD; Ebba Lohmann, MD; José Miguel Brás, PhD; et al.
JAMA Neurol. 2013;70(1):78-84. doi:10.1001/jamaneurol.2013.579.
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JAMA Dermatology | 
Viewpoint |  January 01, 2013
Expectations for Comparative Effectiveness and Efficacy Research:  With Welcomed Questions May Come Unwelcome Answers
William H. Eaglstein, MD; Robert S. Kirsner, MD, PhD
JAMA Dermatol. 2013;149(1):18-19. doi:10.1001/jamadermatol.2013.1324.
JAMA Otolaryngology–Head & Neck Surgery | 
Original Article |  January 01, 2013
Restricting Indications for Sinonasal Computed Tomography in Children With Cystic Fibrosis
Oren Cavel, MD; Marie-Claude Quintal, MD; Jacques-Édouard Marcotte, MD; et al.
JAMA Otolaryngol Head Neck Surg. 2013;139(1):54-58. doi:10.1001/jamaoto.2013.1063.
JAMA Psychiatry | 
Original Article |  January 01, 2013
Fecundity of Patients With Schizophrenia, Autism, Bipolar Disorder, Depression, Anorexia Nervosa, or Substance Abuse vs Their Unaffected Siblings
Robert A. Power, BSc; Simon Kyaga, MD; Rudolf Uher, MD, PhD, MRCPsych; et al.
JAMA Psychiatry. 2013;70(1):22-30. doi:10.1001/jamapsychiatry.2013.268.
JAMA Neurology | 
Clinical Trials |  January 01, 2013
A Randomized, Double-blind, Placebo-Controlled Study of Latrepirdine in Patients With Mild to Moderate Huntington Disease
HORIZON Investigators of the Huntington Study Group and European Huntington's Disease Network*
JAMA Neurol. 2013;70(1):25-33. doi:10.1001/2013.jamaneurol.382.
JAMA Neurology | 
Original Contribution |  January 01, 2013
Acute Silent Cerebral Ischemic Events in Children With Sickle Cell Anemia
Charles T. Quinn, MD, MS; Robert C. McKinstry, MD, PhD; Michael M. Dowling, MD, PhD; et al.
JAMA Neurol. 2013;70(1):58-65. doi:10.1001/jamaneurol.2013.576.
JAMA Psychiatry | 
Original Article |  January 01, 2013
Familial Influences on Conduct Disorder Reflect 2 Genetic Factors and 1 Shared Environmental Factor
Kenneth S. Kendler, MD; Steven H. Aggen, PhD; Christopher J. Patrick, PhD
JAMA Psychiatry. 2013;70(1):78-86. doi:10.1001/jamapsychiatry.2013.267.
JAMA Neurology | 
Original Contribution |  January 01, 2013
Glycine Receptor Autoimmune Spectrum With Stiff-Man Syndrome Phenotype
Andrew McKeon, MD; Eugenia Martinez-Hernandez, MD; Eric Lancaster, MD, PhD; et al.
JAMA Neurol. 2013;70(1):44-50. doi:10.1001/jamaneurol.2013.574.
JAMA Neurology | 
Images in Neurology |  January 01, 2013
Neurologic and Vascular Abnormalities in Klippel-Trenaunay-Weber Syndrome
Dimitri Renard, MD; Chantal Campello, MD; Guillaume Taieb, MD; et al.
JAMA Neurol. 2013;70(1):127-128. doi:10.1001/jamaneurol.2013.587.
JAMA Ophthalmology | 
Ophthalmic Molecular Genetics |  January 01, 2013
Cone Structure in Patients With Usher Syndrome Type III and Mutations in the Clarin 1 Gene
Kavitha Ratnam, BS; Hanna Västinsalo, PhD; Austin Roorda, PhD; et al.
JAMA Ophthalmol. 2013;131(1):67-74. doi:10.1001/2013.jamaophthalmol.2.
JAMA Neurology | 
Original Contribution |  January 01, 2013
A Trial of Scheduled Deep Brain Stimulation for Tourette Syndrome:  Moving Away From Continuous Deep Brain Stimulation Paradigms
Michael S. Okun, MD; Kelly D. Foote, MD; Samuel S. Wu, PhD; et al.
JAMA Neurol. 2013;70(1):85-94. doi:10.1001/jamaneurol.2013.580.
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JAMA | 
JAMA Clinical Challenge |  December 26, 2012 FREE
Facial and Upper Body Papules in a Patient With a Family History of Recurrent Pneumothorax
Sarah J. Felton, MA, MRCP; Vishal Madan, MD, MRCP
JAMA. 2012;308(24):2622-2623. doi:10.1001/jama.2012.91099.
JAMA | 
Medical News and Perspectives |  December 12, 2012
1000 Genomes Project Finds Substantial Genetic Variation Among Populations
Bridget M. Kuehn, MSJ
JAMA. 2012;308(22):2322-2325. doi:10.1001/jama.2012.88674.
JAMA Ophthalmology | 
Clinical Sciences |  December 01, 2012
Characterizing the Phenotype and Genotype of a Family With Occult Macular Dystrophy
Connie J. Chen, MD; Hendrik P. N. Scholl, MD, MA; David G. Birch, PhD; et al.
Arch Ophthalmol. 2012;130(12):1554-1559. doi:10.1001/archophthalmol.2012.2683.
JAMA Otolaryngology–Head & Neck Surgery | 
Original Article |  December 01, 2012
Endoscopic Sinus Surgery in Adults With Cystic Fibrosis:  Effect on Lung Function, Intravenous Antibiotic Use, and Hospitalization
Oswaldo A. Henriquez, MD; Lindy L. Wolfenden, MD; Arlene Stecenko, MD; et al.
Arch Otolaryngol Head Neck Surg. 2012;138(12):1167-1170. doi:10.1001/jamaoto.2013.810.
JAMA Ophthalmology | 
Translational Science With Clinical Promise |  December 01, 2012
Treatment of Oxidative Stress With Chelation Therapy
Marco Zarbin, MD, PhD
Arch Ophthalmol. 2012;130(12):1597-1598. doi:10.1001/jamaophthalmol.2013.1306.
JAMA Neurology | 
Correspondence |  December 01, 2012
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay in the Time of Next-Generation Sequencing
Gabriella Silvestri, MD, PhD; Marcella Masciullo, MD; Filippo M. Santorelli, MD
Arch Neurol. 2012;69(12):1661-1662. doi:10.1001/2013.jamaneurol.70.
JAMA Neurology | 
Correspondence |  December 01, 2012
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay in the Time of Next-Generation Sequencing—Reply
Angela Pyle, PhD; Rita Horvath, MD; Patrick F. Chinnery, PhD, FRCP, FMedSci
Arch Neurol. 2012;69(12):1661-1662. doi:10.1001/2013.jamaneurol.389.
JAMA Psychiatry | 
Original Article |  December 01, 2012
Highly Penetrant Alterations of a Critical Region Including BDNF in Human Psychopathology and Obesity
Carl Ernst, PhD; Christian R. Marshall, PhD; Yiping Shen, PhD; et al.
Arch Gen Psychiatry. 2012;69(12):1238-1246. doi:10.1001/archgenpsychiatry.2012.660.
INCLUDES: , Supplemental Content
JAMA Neurology | 
Neurological Review |  December 01, 2012
Dopa-Responsive Dystonia Revisited:  Diagnostic Delay, Residual Signs, and Nonmotor Signs
Vera Tadic, MD; Meike Kasten, MD; Norbert Brüggemann, MD; et al.
Arch Neurol. 2012;69(12):1558-1562. doi:10.1001/archneurol.2012.574.
INCLUDES: , Supplemental Content

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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.
JAMA
From JAMA's Daily News Site  |  May 15, 2013
Selections From News@JAMA and JAMA Forum
JAMA Neurology
Original Contribution  |  May 13, 2013
Clinical and Biochemical Differences in Patients Having Parkinson Disease With vs Without GBA Mutations
Lama M. Chahine, MD; Judy Qiang, BA; Emily Ashbridge; et al.
JAMA Neurology
Clinical Implications of Basic Neuroscience Research  |  May 13, 2013
TRIM Proteins in Therapeutic Membrane Repair of Muscular Dystrophy
Jenna Alloush; Noah Weisleder, PhD
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