Genetic Disorders

Contributing journals to this collection:
JAMA & Archives Journals

Citations 331-340 of 1368 total displayed.

Past content

Studies
Heterozygosity for a Single Mutation in the ABCC6 Gene May Closely Mimic PXE: Consequences of This Phenotype Overlap for the Definition of PXE

Ludovic Martin; Frédéric Maître; Pierre Bonicel; Patrick Daudon; Christophe Verny; Dominique Bonneau; Olivier Le Saux; Nicolas Chassaing
Arch Dermatol 2008; 144: 301-306. [Abstract] [Full text] [PDF]  

Editorials
Neuromics

Roger N. Rosenberg
Arch Neurol 2008; 65: 304. [Extract] [Full text] [PDF]  

Editorials
Neuromics and Neurological Disease

Roger N. Rosenberg
Arch Neurol 2008; 65: 307-308. [Extract] [Full text] [PDF]  

Studies
A Romanian Population Isolate With High Frequency of Vitiligo and Associated Autoimmune Diseases

Stanca A. Birlea; Pamela R. Fain; Richard A. Spritz
Arch Dermatol 2008; 144: 310-316. [Abstract] [Full text] [PDF]  

Original Articles
Using Dimensional Models of Externalizing Psychopathology to Aid in Gene Identification

Danielle M. Dick; Fazil Aliev; Jen C. Wang; Richard A. Grucza; Marc Schuckit; Samuel Kuperman; John Kramer; Anthony Hinrichs; Sarah Bertelsen; John P. Budde; Victor Hesselbrock; Bernice Porjesz; Howard J. Edenberg; Laura Jean Bierut; Alison Goate
Arch Gen Psychiatry 2008; 65: 310-318. [Abstract] [Full text] [PDF]  

Clinical Sciences
Macular Dystrophy Associated With the A3243G Mitochondrial DNA Mutation: Distinct Retinal and Associated Features, Disease Variability, and Characterization of Asymptomatic Family Members

Michel Michaelides; Sharon A. Jenkins; Doris-Eva Bamiou; Mary G. Sweeney; Mary B. Davis; Linda Luxon; Alan C. Bird; Pamela P. Rath
Arch Ophthalmol 2008; 126: 320-328. [Abstract] [Full text] [PDF] [ Supplementary Content ]  

Studies
Primary Erythermalgia as a Sodium Channelopathy: Screening for SCN9A Mutations: Exclusion of a Causal Role of SCN10A and SCN11A

Joost P. H. Drenth; Rene H. M. te Morsche; Sahar Mansour; Peter S. Mortimer
Arch Dermatol 2008; 144: 320-324. [Abstract] [Full text] [PDF]  

Observations
Between Light and Dark, the Chimera Comes Out

Dan Lipsker; Elisabeth Flory; Marie-Louise Wiesel; Daniel Hanau; Henri de la Salle
Arch Dermatol 2008; 144: 327-330. [Abstract] [Full text] [PDF]  

Neurological Reviews
Genome-Wide Association Studies in Alzheimer Disease

Stephen C. Waring; Roger N. Rosenberg
Arch Neurol 2008; 65: 329-334. [Abstract] [Full text] [PDF]  

Observations
Defective Lamellar Granule Secretion in Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome Caused by a Mutation in VPS33B

Dov Hershkovitz; Hannah Mandel; Akemi Ishida-Yamamoto; Ilana Chefetz; Bayan Hino; Anthony Luder; Margarita Indelman; Reuven Bergman; Eli Sprecher
Arch Dermatol 2008; 144: 334-340. [Abstract] [Full text] [PDF]  

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