Genetic Disorders

Contributing journals to this collection:
JAMA & Archives Journals

Citations 351-360 of 1368 total displayed.

Past content

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]  

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]  

Ophthalmic Molecular Genetics
New Mutation, P575L, in the GUCY2D Gene in a Family With Autosomal Dominant Progressive Cone Degeneration

Kent W. Small; Rosamaria Silva-Garcia; Nitin Udar; Eddy V. Nguyen; John R. Heckenlively
Arch Ophthalmol 2008; 126: 397-403. [Abstract] [Full text] [PDF]  

Controversies
Cytogenetics in the Management of Uveal Melanoma: Are We There Yet?

Dennis M. Robertson
Arch Ophthalmol 2008; 126: 409-410. [Extract] [Full text] [PDF]  

Observations
Mosaicism for Trisomy 21 in a Patient With Young-Onset Dementia: A Case Report and Brief Literature Review

John M. Ringman; P. Nagesh Rao; Po H. Lu; Stephen Cederbaum
Arch Neurol 2008; 65: 412-415. [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]  

Controversies
The Future Promise and the Current Reality of Genetic Prognostication in Patients With Uveal Melanoma

Tony Tsai; Joan M. O’Brien
Arch Ophthalmol 2008; 126: 413-415. [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]  

Controversies
Role of Cytogenetics in Management of Uveal Melanoma

Jerry A. Shields; Carol L. Shields; Miguel Materin; Takami Sato; Arupa Ganguly
Arch Ophthalmol 2008; 126: 416-419. [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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