Genetics

Contributing journals to this collection:
JAMA & Archives Journals

Citations 491-500 of 2155 total displayed.

Past content

Original Contributions
Cortical Brain Malformations: Effect of Clinical, Neuroradiological, and Modern Genetic Classification

Marie Claire Yvette de Wit; Maarten H. Lequin; Ireneaus F. M. de Coo; Esther Brusse; Dicky J. J. Halley; Raoul van de Graaf; Rachel Schot; Frans W. Verheijen; Grazia M. S. Mancini
Arch Neurol 2008; 65: 358-366. [Abstract] [Full text] [PDF]  

Ophthalmic Molecular Genetics
A Novel Variant of Combined Granular-Lattice Corneal Dystrophy Associated With the Met619Lys Mutation in the TGFBI Gene

Anthony J. Aldave; Vivek S. Yellore; Baris Sonmez; Nirit Bourla; Andrew K. Salem; M. Ali Khan; Sylvia A. Rayner; Ben J. Glasgow
Arch Ophthalmol 2008; 126: 371-377. [Abstract] [Full text] [PDF]  

Original Contributions
Conjugal Alzheimer Disease: Risk in Children When Both Parents Have Alzheimer Disease

Suman Jayadev; Ellen J. Steinbart; Yueh-Yun Chi; Walter A. Kukull; Gerard D. Schellenberg; Thomas D. Bird
Arch Neurol 2008; 65: 373-378. [Abstract] [Full text] [PDF]  

Ophthalmic Molecular Genetics
Discordant Phenotypes in Fraternal Twins Having an Identical Mutation in Exon ORF15 of the RPGR Gene

Saloni Walia; Gerald A. Fishman; Anand Swaroop; Kari E. H. Branham; Martin Lindeman; Mohammad Othman; Richard G. Weleber
Arch Ophthalmol 2008; 126: 379-384. [Abstract] [Full text] [PDF]  

Original Contributions
A Locus for Primary Lateral Sclerosis on Chromosome 4ptel-4p16.1

Paul N. Valdmanis; Nicolas Dupré; Guy A. Rouleau
Arch Neurol 2008; 65: 383-386. [Abstract] [Full text] [PDF]  

Editorials
Recessive Palmoplantar Keratodermas: A Fertile Biological Hunting Ground

Laurent Parmentier; Peter M. Steijlen; Maurice A. M. van Steensel
Arch Dermatol 2008; 144: 384-385. [Extract] [Full text] [PDF]  

Editorials
Molecular Genetics as a Diagnostic and Prognostic Aid in the Assessment of Neonates With Red, Scaly Genodermatoses: Work Still in Progress

Suzanne E. Clements; John A. McGrath
Arch Dermatol 2008; 144: 387-388. [Extract] [Full text] [PDF]  

Ophthalmic Molecular Genetics
Novel and Recurrent KIF21A Mutations in Congenital Fibrosis of the Extraocular Muscles Type 1 and 3

Shasha Lu; Chen Zhao; Kanxing Zhao; Ningdong Li; Catharina Larsson
Arch Ophthalmol 2008; 126: 388-394. [Abstract] [Full text] [PDF]  

Editorials
Dermatology in the Postgenomic Era: Harnessing Human Variation for Personalized Medicine

Anthony E. Oro
Arch Dermatol 2008; 144: 389-391. [Extract] [Full text] [PDF]  

Special Articles
Autoinflammatory Diseases: Clinical and Genetic Advances

Sharifeh Farasat; Ivona Aksentijevich; Jorge R. Toro
Arch Dermatol 2008; 144: 392-402. [Abstract] [Full text] [PDF]  

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