Genetic Disorders

Contributing journals to this collection:
JAMA & Archives Journals

Citations 381-390 of 1368 total displayed.

Past content

Original Contributions
Variation of Breast Cancer Risk Among BRCA1/2 Carriers

Colin B. Begg; Robert W. Haile; Åke Borg; Kathleen E. Malone; Patrick Concannon; Duncan C. Thomas; Bryan Langholz; Leslie Bernstein; Jørgen H. Olsen; Charles F. Lynch; Hoda Anton-Culver; Marinela Capanu; Xiaolin Liang; Amanda J. Hummer; Cami Sima; Jonine L. Bernstein
JAMA 2008; 299: 194-201. [Abstract] [Full text] [PDF]  

Original Contributions
Prevalence and Patterns of Morphological Abnormalities in Patients With Childhood Cancer

Johannes H. M. Merks; Heval M. Özgen; Jan Koster; Aeilko H. Zwinderman; Huib N. Caron; Raoul C. M. Hennekam
JAMA 2008; 299: 61-69. [Abstract] [Full text] [PDF]  

Neurological Reviews
Fragile X–Associated Tremor/Ataxia Syndrome: An Aging Face of the Fragile X Gene

Khaled Amiri; Randi J. Hagerman; Paul J. Hagerman
Arch Neurol 2008; 65: 19-25. [Extract] [Full text] [PDF]  

Original Articles
Prediction of Psychosis in Youth at High Clinical Risk: A Multisite Longitudinal Study in North America

Tyrone D. Cannon; Kristin Cadenhead; Barbara Cornblatt; Scott W. Woods; Jean Addington; Elaine Walker; Larry J. Seidman; Diana Perkins; Ming Tsuang; Thomas McGlashan; Robert Heinssen
Arch Gen Psychiatry 2008; 65: 28-37. [Abstract] [Full text] [PDF]  

Original Articles
Family-Based Association Study of Lithium-Related and Other Candidate Genes in Bipolar Disorder

Roy H. Perlis; Shaun Purcell; Jesen Fagerness; Andrew Kirby; Tracey L. Petryshen; Jinbo Fan; Pamela Sklar
Arch Gen Psychiatry 2008; 65: 53-61. [Abstract] [Full text] [PDF] [ eFigure and eTables ]  

Epidemiology
Estrogen Receptors Alpha and Beta and the Risk of Open-angle Glaucoma: The Rotterdam Study

Simone de Voogd; Roger C. W. Wolfs; Nomdo M. Jansonius; André G. Uitterlinden; Huibert A. P. Pols; Albert Hofman; Paulus T. V. M. de Jong
Arch Ophthalmol 2008; 126: 110-114. [Abstract] [Full text] [PDF]  

Correspondence
Necrobiosis Lipoidica in Monozygotic Twins

Iakov Shimanovich; Hanieh Erdmann; Jürgen Grabbe; Detlef Zillikens; Christian Rose
Arch Dermatol 2008; 144: 119-120. [Extract] [Full text] [PDF]  

Observations
Juvenile Alpers Disease

Esko Wiltshire; Guido Davidzon; Salvatore DiMauro; Hasan O. Akman; Lynette Sadleir; Lindsay Haas; Jane Zuccollo; Alison McEwen; David R. Thorburn
Arch Neurol 2008; 65: 121-124. [Abstract] [Full text] [PDF]  

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]  

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