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Genetic Disorders

Citations 41-50 of 130 total displayed.

Past content (since Feb 1998):

Correspondence
Cutaneous Noncaseating Granulomas Associated With Nijmegen Breakage Syndrome
Jane Yoo; Greg Wolgamot; Troy R. Torgerson; Robert Sidbury
Arch Dermatol 2008; 144: 418-419. [Extract] [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
Multiple Primary Melanomas in a CDKN2A Mutation Carrier Exposed to Ionizing Radiation
Mark J. Eliason; Chris B. Hansen; Marybeth Hart; Patricia Porter-Gill; Wei Chen; Richard A. Sturm; Glen Bowen; Scott R. Florell; Ronald M. Harris; Lisa A. Cannon-Albright; Leonard Swinyer; Sancy A. Leachman
Arch Dermatol 2007; 143: 1409-1412. [Abstract] [Full text] [PDF]  

On the Horizon
The Role of Filaggrin Mutations as an Etiologic Factor in Atopic Dermatitis
Matthew J. Zirwas
Arch Dermatol 2007; 143: 1437-1438. [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]  

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]  

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