Genetic Disorders

Contributing journals to this collection:
JAMA & Archives Journals

Citations 121-130 of 1368 total displayed.

Past content

Observations
Phylloid Hypomelanosis and Mosaic Partial Trisomy 13: Two Cases That Provide Further Evidence of a Distinct Clinicogenetic Entity

M. Antonia González-Enseñat; Asunción Vicente; Pilar Poo; Vicenç Catalá; M. Mar Pérez-Iribarne; Carme Fuster; Esther Geán; Rudolf Happle
Arch Dermatol 2009; 145: 576-578. [Abstract] [Full text] [PDF]  

Original Contributions
Association of Glucocerebrosidase Mutations With Dementia With Lewy Bodies

Lorraine N. Clark; Lykourgos A. Kartsaklis; Rebecca Wolf Gilbert; Beatriz Dorado; Barbara M. Ross; Sergey Kisselev; Miguel Verbitsky; Helen Mejia-Santana; Lucien J. Cote; Howard Andrews; Jean-Paul Vonsattel; Stanley Fahn; Richard Mayeux; Lawrence S. Honig; Karen Marder
Arch Neurol 2009; 66: 578-583. [Abstract] [Full text] [PDF]  

Editorials
Melanomas Reveal Their Nakedness: Uncovered by Interferon Alfa

Jack L. Arbiser; Michael Y. Bonner
Arch Dermatol 2009; 145: 587-588. [Extract] [Full text] [PDF]  

Correspondence
Trichoscopy Using a Handheld Dermoscope: An In-Office Technique to Diagnose Genetic Disease of the Hair

Nanette B. Silverberg; Jonathan I. Silverberg; Mary L. Wong
Arch Dermatol 2009; 145: 600-a-601-a. [Extract] [Full text] [PDF]  

Clinical Sciences
Assessment of 193 Candidate Genes for Retinopathy in African Americans With Type 1 Diabetes

Monique S. Roy; D. Michael Hallman; Yi-Ping Fu; Mirta Machado; Craig L. Hanis
Arch Ophthalmol 2009; 127: 605-612. [Abstract] [Full text] [PDF]  

Correspondence
Epidermolytic Palmoplantar Keratoderma With Constriction Bands on Bilateral Fifth Toes

Naoko Funakushi; Nobuyasu Mayuzumi; Ryohei Sugimura; Shigaku Ikeda
Arch Dermatol 2009; 145: 609-610. [Extract] [Full text] [PDF]  

Correspondence
Efficacy of Adalimumab in the Treatment of Generalized Granuloma Annulare in Monozygotic Twins Carrying the 8.1 Ancestral Haplotype

Keith Allen Knoell
Arch Dermatol 2009; 145: 610-611. [Extract] [Full text] [PDF]  

Original Contributions
Association of Prior Stroke With Cognitive Function and Cognitive Impairment: A Population-Based Study

David S. Knopman; Rosebud O. Roberts; Yonas E. Geda; Bradley F. Boeve; V. Shane Pankratz; Ruth H. Cha; Eric G. Tangalos; Robert J. Ivnik; Ronald C. Petersen
Arch Neurol 2009; 66: 614-619. [Abstract] [Full text] [PDF]  

Ophthalmic Molecular Genetics
Arg124Cys Mutation of the TGFBI Gene in 2 Chinese Families With Thiel-Behnke Corneal Dystrophy

Liu Chang; Wang Zhiqun; Deng Shijing; Zhang Chen; Liang Qingfeng; Li Li; Sun Xuguang
Arch Ophthalmol 2009; 127: 641-644. [Abstract] [Full text] [PDF]  

Epidemiology
Heritability Analysis of Spherical Equivalent, Axial Length, Corneal Curvature, and Anterior Chamber Depth in the Beaver Dam Eye Study

Alison P. Klein; Bhoom Suktitipat; Priya Duggal; Kristine E. Lee; Ronald Klein; Joan E. Bailey-Wilson; Barbara E. K. Klein
Arch Ophthalmol 2009; 127: 649-655. [Abstract] [Full text] [PDF]  

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