Genetic Disorders

Contributing journals to this collection:
JAMA & Archives Journals

Citations 441-450 of 1368 total displayed.

Past content

Letters to the Editor
Affective Temperament: A Mediating Variable Between Environment and Clinical Depression?

Zoltan Rihmer; Xenia Gonda; Kareen K. Akiskal; Hagop S. Akiskal
Arch Gen Psychiatry 2007; 64: 1096-a-1097-a. [Extract] [Full text] [PDF]  

Studies
Clinical, Biochemical, and Genetic Study of 11 Patients With Erythropoietic Protoporphyria Including One With Homozygous Disease

Carmen Herrero; Jordi To-Figueras; Celia Badenas; Manuel Méndez; Patricia Serrano; Rafael Enríquez-Salamanca; Mario Lecha
Arch Dermatol 2007; 143: 1125-1129. [Abstract] [Full text] [PDF]  

Observations
Familial Acanthosis Nigricans Due to K650T FGFR3 Mutation

David R. Berk; Elaine B. Spector; Susan J. Bayliss
Arch Dermatol 2007; 143: 1153-1156. [Abstract] [Full text] [PDF]  

Observations
Epidermolysis Bullosa Nevus: An Exception to the Clinical and Dermoscopic Criteria for Melanoma

Sarah H. Cash; Tara T. Dever; Patrice Hyde; Jason B. Lee
Arch Dermatol 2007; 143: 1164-1167. [Abstract] [Full text] [PDF]  

Clinical Sciences
In Vivo Laser Confocal Microscopic Findings of Corneal Stromal Dystrophies

Akira Kobayashi; Keiko Fujiki; Takuro Fujimaki; Akira Murakami; Kazuhisa Sugiyama
Arch Ophthalmol 2007; 125: 1168-1173. [Abstract] [Full text] [PDF]  

Editorials
Dermatology and the Human Genome: An Epidemiologic Approach

Marta Gwinn; Muin J. Khoury
Arch Dermatol 2007; 143: 1194-1196. [Extract] [Full text] [PDF]  

Research Letters
A Novel Missense Mutation in the CYLD Gene in a Spanish Family With Multiple Familial Trichoepithelioma

Agustín España; Fermin García-Amigot; Leyre Aguado; Jesús García-Foncillas
Arch Dermatol 2007; 143: 1209-1210. [Extract] [Full text] [PDF]  

Research Letters
A Novel PTPN11 Gene Mutation in a Patient With LEOPARD Syndrome

Aurélie Du-Thanh; Hélène Cave; Didier Bessis; Carine Puso; Jean-Jacques Guilhou; Olivier Dereure
Arch Dermatol 2007; 143: 1210-1211. [Extract] [Full text] [PDF]  

Epidemiology
Mitochondrial DNA Haplogroups and Age-Related Maculopathy

Michael M. Jones; Neil Manwaring; Jie Jin Wang; Elena Rochtchina; Paul Mitchell; Carolyn M. Sue
Arch Ophthalmol 2007; 125: 1235-1240. [Abstract] [Full text] [PDF]  

Neurological Reviews
Gene Therapy for Duchenne Muscular Dystrophy: Expectations and Challenges

Louise R. Rodino-Klapac; Louis G. Chicoine; Brian K. Kaspar; Jerry R. Mendell
Arch Neurol 2007; 64: 1236-1241. [Abstract] [Full text] [PDF]  

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