Genetics

Contributing journals to this collection:
JAMA & Archives Journals

Citations 81-90 of 2155 total displayed.

Past content

Original Contributions
LIS1-Related Isolated Lissencephaly: Spectrum of Mutations and Relationships With Malformation Severity

Yoann Saillour; Nathalie Carion; Chloé Quelin; Pierre-Louis Leger; Nathalie Boddaert; Caroline Elie; Annick Toutain; Sandra Mercier; Marie Anne Barthez; Mathieu Milh; Sylvie Joriot; Vincent des Portes; Nicole Philip; Dominique Broglin; Agathe Roubertie; Gaelle Pitelet; Marie Laure Moutard; Jean Marc Pinard; Claude Cances; Anna Kaminska; Jamel Chelly; Chérif Beldjord; Nadia Bahi-Buisson
Arch Neurol 2009; 66: 1007-1015. [Abstract] [Full text] [PDF]  

Observations
Mitochondrial Neurogastrointestinal Encephalopathy Due to Mutations in RRM2B

Aziz Shaibani; Oleg A. Shchelochkov; Shulin Zhang; Panagiotis Katsonis; Olivier Lichtarge; Lee-Jun Wong; Marwan Shinawi
Arch Neurol 2009; 66: 1028-1032. [Abstract] [Full text] [PDF]  

Research Letters
Novel Compound Heterozygous Mutations in CERKL Cause Autosomal Recessive Retinitis Pigmentosa in a Nonconsanguineous Chinese Family

Zhaohui Tang; Zhaoxiang Wang; Zhi Wang; Tie Ke; Qing Kenneth Wang; Mugen Liu
Arch Ophthalmol 2009; 127: 1077-1078. [Extract] [Full text] [PDF]  

Medical News & Perspectives
FDA Focuses on Drugs and Liver Damage: Labeling and Other Changes for Acetaminophen

Bridget M. Kuehn
JAMA 2009; 302: 369-371. [Extract] [Full text] [PDF]  

Health Agencies Update
New Inflammatory Disorder

Bridget M. Kuehn
JAMA 2009; 302: 375-c. [Extract] [Full text] [PDF]  

Health Agencies Update
Autism Study

Bridget M. Kuehn
JAMA 2009; 302: 375. [Extract] [Full text] [PDF]  

Original Contributions
A Network Model of a Cooperative Genetic Landscape in Brain Tumors

Markus Bredel; Denise M. Scholtens; Griffith R. Harsh; Claudia Bredel; James P. Chandler; Jaclyn J. Renfrow; Ajay K. Yadav; Hannes Vogel; Adrienne C. Scheck; Robert Tibshirani; Branimir I. Sikic
JAMA 2009; 302: 261-275. [Abstract] [Full text] [PDF] [ eFigures ] [ Interactive Figures ] [ JAMA Report Video ]  

Original Contributions
Monosomy of Chromosome 10 Associated With Dysregulation of Epidermal Growth Factor Signaling in Glioblastomas

Ajay K. Yadav; Jaclyn J. Renfrow; Denise M. Scholtens; Hehuang Xie; George E. Duran; Claudia Bredel; Hannes Vogel; James P. Chandler; Arnab Chakravarti; Pierre A. Robe; Sunit Das; Adrienne C. Scheck; John A. Kessler; Marcelo B. Soares; Branimir I. Sikic; Griffith R. Harsh; Markus Bredel
JAMA 2009; 302: 276-289. [Abstract] [Full text] [PDF] [ eFigure ]  

Editorials
One Step Forward Toward Identification of the Genetic Signature of Glioblastomas

Boris Pasche; Richard M. Myers
JAMA 2009; 302: 325-326. [Extract] [Full text] [PDF]  

Original Contributions
Genetic Variants Associated With Cardiac Structure and Function: A Meta-analysis and Replication of Genome-wide Association Data

Ramachandran S. Vasan; Nicole L. Glazer; Janine F. Felix; Wolfgang Lieb; Philipp S. Wild; Stephan B Felix; Norbert Watzinger; Martin G. Larson; Nicholas L. Smith; Abbas Dehghan; Anika Großhennig; Arne Schillert; Alexander Teumer; Reinhold Schmidt; Sekar Kathiresan; Thomas Lumley; Yurii S. Aulchenko; Inke R. König; Tanja Zeller; Georg Homuth; Maksim Struchalin; Jayashri Aragam; Joshua C. Bis; Fernando Rivadeneira; Jeanette Erdmann; Renate B. Schnabel; Marcus Dörr; Robert Zweiker; Lars Lind; Richard J. Rodeheffer; Karin Halina Greiser; Daniel Levy; Talin Haritunians; Jaap W. Deckers; Jan Stritzke; Karl J. Lackner; Uwe Völker; Erik Ingelsson; Iftikhar Kullo; Johannes Haerting; Christopher J. O’Donnell; Susan R. Heckbert; Bruno H. Stricker; Andreas Ziegler; Thorsten Reffelmann; Margaret M. Redfield; Karl Werdan; Gary F. Mitchell; Kenneth Rice; Donna K. Arnett; Albert Hofman; John S. Gottdiener; Andre G. Uitterlinden; Thomas Meitinger; Maria Blettner; Nele Friedrich; Thomas J. Wang; Bruce M. Psaty; Cornelia M. van Duijn; H.-Erich Wichmann; Thomas F. Munzel; Heyo K. Kroemer; Emelia J. Benjamin; Jerome I. Rotter; Jacqueline C. Witteman; Heribert Schunkert; Helena Schmidt; Henry Völzke; Stefan Blankenberg
JAMA 2009; 302: 168-178. [Abstract] [Full text] [PDF] [ eSupplement ]  

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