Genetics

Citations 41-50 of 196 total displayed.

Past content (since Feb 1998):

Observations
Defective Lamellar Granule Secretion in Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome Caused by a Mutation in VPS33B

Dov Hershkovitz; Hannah Mandel; Akemi Ishida-Yamamoto; Ilana Chefetz; Bayan Hino; Anthony Luder; Margarita Indelman; Reuven Bergman; Eli Sprecher
Arch Dermatol 2008; 144: 334-340. [Abstract] [Full text] [PDF]  

Observations
X-Linked Ectodermal Dysplasia With Immunodeficiency Caused by NEMO Mutation: Early Recognition and Diagnosis

Anthony J. Mancini; Leslie P. Lawley; Gulbu Uzel
Arch Dermatol 2008; 144: 342-346. [Abstract] [Full text] [PDF]  

Observations
Self-Healing Collodion Membrane and Mild Nonbullous Congenital Ichthyosiform Erythroderma Due to 2 Novel Mutations in the ALOX12B Gene

Mandy Harting; Nicola Brunetti-Pierri; C. Stanley Chan; Joslyn Kirby; Megan K. Dishop; Gabriele Richard; Fernando Scaglia; Albert C. Yan; Moise L. Levy
Arch Dermatol 2008; 144: 351-356. [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]  

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]  

Research Letters
MBL2 Functional Allelic Variants and Increased Risk for the Development of Atopic Dermatitis in Brazilian Children

Lucas A. C. Brandão; Rafael L. Guimarães; Matilde Carrera; Michele Milanese; Ludovica Segat; José Luiz de Lima-Filho; Luiz Claudio Arraes; Sergio Crovella
Arch Dermatol 2008; 144: 412-413. [Extract] [Full text] [PDF]  

Correspondence
Linear and Whorled Nevoid Hypermelanosis: Unique Clinical Presentations and Their Possible Association With Chromosomal Abnormality inv(9)

Seung Phil Hong; Seok-Yong Ahn; Won-Soo Lee
Arch Dermatol 2008; 144: 415-416. [Extract] [Full text] [PDF]  

Correspondence
Amelanotic Melanoma in a Patient With Rothmund-Thomson Syndrome

Sarah M. Howell; David W. Bray
Arch Dermatol 2008; 144: 416-417. [Extract] [Full text] [PDF]  

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