Genetics

Contributing journals to this collection:
JAMA & Archives Journals

Citations 551-560 of 2155 total displayed.

Past content

Observations
POLG1 Mutations Manifesting as Autosomal Recessive Axonal Charcot-Marie-Tooth Disease

Timothy Harrower; Joanna D. Stewart; Gavin Hudson; Henry Houlden; Graham Warner; Dominic G. O’Donovan; Leslie J. Findlay; Robert W. Taylor; Rajith De Silva; Patrick F. Chinnery
Arch Neurol 2008; 65: 133-136. [Abstract] [Full text] [PDF] [ VIDEO SUPPLEMENT ]  

Observations
Mild POMGnT1 Mutations Underlie a Novel Limb-Girdle Muscular Dystrophy Variant

Emma M. Clement; Caroline Godfrey; Jenny Tan; Martin Brockington; Silvia Torelli; Lucy Feng; Susan C. Brown; Cecilia Jimenez-Mallebrera; Caroline A. Sewry; Cheryl Longman; Rachael Mein; Steve Abbs; Jiri Vajsar; Harry Schachter; Francesco Muntoni
Arch Neurol 2008; 65: 137-141. [Abstract] [Full text] [PDF]  

Letters
Retinopathy in Inherited Transcobalamin II Deficiency

Aruna Dharmasena; Antonio Calcagni; Andrea R. Kerr
Arch Ophthalmol 2008; 126: 141-142. [Extract] [Full text] [PDF]  

Original Contributions
Prevalence of Pathogenic BRCA1 Mutation Carriers in 5 US Racial/Ethnic Groups

Esther M. John; Alexander Miron; Gail Gong; Amanda I. Phipps; Anna Felberg; Frederick P. Li; Dee W. West; Alice S. Whittemore
JAMA 2007; 298: 2869-2876. [Abstract] [Full text] [PDF] [ JAMA News Video ]  

Editorials
Genetic Testing in Diverse Populations: Are Researchers Doing Enough to Get Out the Correct Message?

Dezheng Huo; Olufunmilayo I. Olopade
JAMA 2007; 298: 2910-2911. [Extract] [Full text] [PDF]  

Letters
Claims of Sex-Gene Interactions

Paul F. Pinsky
JAMA 2007; 298: 2741-a-2742-a. [Extract] [Full text] [PDF]  

Letters
Claims of Sex-Gene Interactions—Reply

Nikolaos A. Patsopoulos; Athina Tatsioni; John P. A. Ioannidis
JAMA 2007; 298: 2742. [Extract] [Full text] [PDF]  

Commentaries
Health Care in the Age of Genetic Medicine

James P. Evans
JAMA 2007; 298: 2670-2672. [Extract] [Full text] [PDF]  

Medical News & Perspectives
Researchers Deconstruct Metastasis: Genetic Clues Revealed

Tracy Hampton
JAMA 2007; 298: 2471. [Extract] [Full text] [PDF]  

The Pediatric Forum
Genetics Is Not a Subspecialty

Angela Scheuerle
Arch Pediatr Adolesc Med 2007; 161: 1219. [Extract] [Full text] [PDF]  

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