Genetic Disorders

Contributing journals to this collection:
JAMA & Archives Journals

Citations 41-50 of 1368 total displayed.

Past content

Original Contributions
Prediction by Modeling That Epilepsy May Be Caused by Very Small Functional Changes in Ion Channels

Evan A. Thomas; Christopher A. Reid; Samuel F. Berkovic; Steven Petrou
Arch Neurol 2009; 66: 1225-1232. [Abstract] [Full text] [PDF]  

Original Contributions
Codistribution of Amyloid β Plaques and Spongiform Degeneration in Familial Creutzfeldt-Jakob Disease With the E200K-129M Haplotype

Nupur Ghoshal; Ignazio Cali; Richard Justin Perrin; S. Andrew Josephson; Ning Sun; Pierluigi Gambetti; John Carl Morris
Arch Neurol 2009; 66: 1240-1246. [Abstract] [Full text] [PDF]  

Original Contributions
Implication of Sex and SORL1 Variants in Italian Patients With Alzheimer Disease

Elena Cellini; Andrea Tedde; Silvia Bagnoli; Silvia Pradella; Silvia Piacentini; Sandro Sorbi; Benedetta Nacmias
Arch Neurol 2009; 66: 1260-1266. [Abstract] [Full text] [PDF]  

Original Contributions
Association of Intronic Variants of the BTBD9 Gene With Tourette Syndrome

Jean-Baptiste Rivière; Lan Xiong; Anastasia Levchenko; Judith St-Onge; Claudia Gaspar; Yves Dion; Paul Lespérance; Geneviève Tellier; François Richer; Sylvain Chouinard; Guy A. Rouleau; for the Montreal Tourette Study Group
Arch Neurol 2009; 66: 1267-1272. [Abstract] [Full text] [PDF]  

Corrections
Error in Table in: Progress and Challenges in RNA Interference Therapy for Huntington Disease

Arch Neurol 2009; 66: 1272. [Full text] [PDF]  

Epidemiology
Complement Factor H and the Bilaterality of Age-Related Macular Degeneration: The Blue Mountains Eye Study

Amy Shih-I Pai; Paul Mitchell; Elena Rochtchina; Sudha Iyengar; Jie Jin Wang
Arch Ophthalmol 2009; 127: 1339-1344. [Abstract] [Full text] [PDF]  

Ophthalmic Molecular Genetics
Typing of ARMS2 and CFH in Age-Related Macular Degeneration: Case-Control Study and Assessment of Frequency in the Italian Population

Federico Ricci; Stefania Zampatti; Francesca D’Abbruzzi; Filippo Missiroli; Claudia Martone; Tiziana Lepre; Ilenia Pietrangeli; Cecilia Sinibaldi; Cristina Peconi; Giuseppe Novelli; Emiliano Giardina
Arch Ophthalmol 2009; 127: 1368-1372. [Abstract] [Full text] [PDF]  

Ophthalmic Molecular Genetics
Clinical and Genetic Profile of Avellino Corneal Dystrophy in 2 Families From North India

Preeti Paliwal; Jaya Gupta; Radhika Tandon; Arundhati Sharma; Rasik B. Vajpayee
Arch Ophthalmol 2009; 127: 1373-1376. [Abstract] [Full text] [PDF]  

Editorials
Mortality in Celiac Disease, Intestinal Inflammation, and Gluten Sensitivity

Peter H. R. Green
JAMA 2009; 302: 1225-1226. [Extract] [Full text] [PDF]  

Corrections
Data Set Error in: Pharmacogenetic Association of the NPPA T2238C Genetic Variant With Cardiovascular Disease Outcomes in Patients With Hypertension

JAMA 2009; 302: 1057. [Full text] [PDF]  

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