Genetic Disorders

Contributing journals to this collection:
JAMA & Archives Journals

Citations 291-300 of 1368 total displayed.

Past content

Ophthalmic Molecular Genetics
Identification of Mutations in the SLC4A11 Gene in Patients With Recessive Congenital Hereditary Endothelial Dystrophy

Boomiraj Hemadevi; Reiner A. Veitia; Muthiah Srinivasan; Jambulingam Arunkumar; Namperumalsamy Venkatesh Prajna; Corinne Lesaffre; Periasamy Sundaresan
Arch Ophthalmol 2008; 126: 700-708. [Abstract] [Full text] [PDF]  

Ophthalmic Molecular Genetics
Novel SOX2 Mutation Associated With Ocular Coloboma in a Chinese Family

Panfeng Wang; Xiaoling Liang; Junhui Yi; Qingjiong Zhang
Arch Ophthalmol 2008; 126: 709-713. [Abstract] [Full text] [PDF]  

Letters
Detection of Facial Hypotonia and Diagnosis of Facioscapulohumeral Dystrophy

Veeral S. Sheth; Michael J. Shapiro
Arch Ophthalmol 2008; 126: 745-b-746-b. [Extract] [Full text] [PDF]  

Letters
Detection of Facial Hypotonia and Diagnosis of Facioscapulohumeral Dystrophy—Reply

Carol L. Shields; Jonathan Zahler; Jerry A. Shields
Arch Ophthalmol 2008; 126: 746. [Extract] [Full text] [PDF]  

Letters
Classification of the Corneal Dystrophies

Anthony J. Aldave
Arch Ophthalmol 2008; 126: 747-a. [Extract] [Full text] [PDF]  

Original Investigations
Genetic Predisposition, Nongenetic Risk Factors, and Coronary Infarct

Antonia Trichopoulou; Nikos Yiannakouris; Christina Bamia; Vassiliki Benetou; Dimitrios Trichopoulos; Jose M. Ordovas
Arch Intern Med 2008; 168: 891-896. [Abstract] [Full text] [PDF]  

Medical News & Perspectives
Guidelines for von Willebrand Disease Urge Routine Screening for Bleeding

Mike Mitka
JAMA 2008; 299: 1890. [Extract] [Full text] [PDF]  

Articles
A Genetic Decomposition of the Association Between Parasomnias and Dyssomnias in 8-Year-Old Twins

Alice M. Gregory
Arch Pediatr Adolesc Med 2008; 162: 299-304. [Abstract] [Full text] [PDF]  

Original Articles
A Discriminating Messenger RNA Signature for Bipolar Disorder Formed by an Aberrant Expression of Inflammatory Genes in Monocytes

Roos C. Padmos; Manon H. J. Hillegers; Esther M. Knijff; Ronald Vonk; Anne Bouvy; Frank J. T. Staal; Dick de Ridder; Ralph W. Kupka; Willem A. Nolen; Hemmo A. Drexhage
Arch Gen Psychiatry 2008; 65: 395-407. [Abstract] [Full text] [PDF] [ eFigure and eTables ]  

Original Articles
A Novel SLC26A4 (PDS) Deafness Mutation Retained in the Endoplasmic Reticulum

Zippora N. Brownstein; Amiel A. Dror; Dror Gilony; Lela Migirov; Koret Hirschberg; Karen B. Avraham
Arch Otolaryngol Head Neck Surg 2008; 134: 403-407. [Abstract] [Full text] [PDF]  

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