Genetic Counseling/ Testing/ Therapy

Contributing journals to this collection:
JAMA & Archives Journals

Citations 561-570 of 718 total displayed.

Past content

Student JAMA
ON THE COVER

JAMA 2001; 286: 1633-1634. [Extract] [Full text] [PDF]  

Special Topics
Genetics, the Facial Plastic and Reconstructive Surgeon, and the Future

Michael D. Seidman
Arch Facial Plast Surg 2001; 3: 227-229. [Abstract] [Full text] [PDF]  

Original Contributions
Hereditary Neuropathy With Liability to Pressure Palsies Is Not a Major Cause of Idiopathic Carpal Tunnel Syndrome

David W. Stockton; Ricardo A. Meade; David T. Netscher; Michael J. Epstein; Saleh M. Shenaq; Lisa G. Shaffer; James R. Lupski
Arch Neurol 2001; 58: 1635-1637. [Abstract] [Full text] [PDF]  

Original Contributions
Association of Moderate Polyglutamine Tract Expansions in the Slow Calcium-Activated Potassium Channel Type 3 With Ataxia

Karla Patricia Figueroa; Piu Chan; Ludger Schöls; Carline Tanner; Olaff Riess; Susan L. Perlman; Daniel H. Geschwind; Stefan M. Pulst
Arch Neurol 2001; 58: 1649-1653. [Abstract] [Full text] [PDF]  

Observations
Phenotypic Heterogeneity in Bullous Congenital Ichthyosiform Erythroderma: Possible Somatic Mosaicism for Keratin Gene Mutation in the Mildly Affected Mother of the Proband

Kazuo Nomura; Kaoru Umeki; Ichiro Hatayama; Tadayuki Kuronuma
Arch Dermatol 2001; 137: 1192-1195. [Abstract] [Full text] [PDF]  

Editorials
Expanding Our Concepts of Mosaic Disorders of Skin

Amy S. Paller
Arch Dermatol 2001; 137: 1236-1238. [Extract] [Full text] [PDF]  

Laboratory Sciences
Validation of a Diagnostic Multiplex Polymerase Chain Reaction Assay for Infectious Posterior Uveitis

Humeyra Dabil; Michelle L. Boley; Therese M. Schmitz; Russell N. Van Gelder
Arch Ophthalmol 2001; 119: 1315-1322. [Abstract] [Full text] [PDF]  

Original Contributions
A Novel Mutation in the Notch3 Gene in an Italian Family With Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy: Genetic and Magnetic Resonance Spectroscopic Findings

Rosario L. Oliveri; Maria Muglia; Nicole De Stefano; Rosalucia Mazzei; Angelo Labate; Francesca L. Conforti; Allessandra Patitucci; Anna L. Gabriele; Giuseppe Tagarelli; Angela Magariello; Mario Zappia; Antonio Gambardella; Antonio Federico; Aldo Quattrone
Arch Neurol 2001; 58: 1418-1422. [Abstract] [Full text] [PDF]  

Original Articles
Localization of the Gene for Familial Laryngeal Abductor Paralysis to Chromosome 6q16

Jose M. Manaligod; Jennifer Skaggs; Richard J. H. Smith
Arch Otolaryngol Head Neck Surg 2001; 127: 913-917. [Abstract] [Full text] [PDF]  

Original Articles
MYO1F as a Candidate Gene for Nonsyndromic Deafness, DFNB15

Achih H. Chen; Dietrich A. Stephan; Tama Hasson; Kunihiro Fukushima; Christiana M. Nelissen; Arthur F. Chen; Andrew I. Jun; Arabandi Ramesh; Guy Van Camp; Richard J. H. Smith
Arch Otolaryngol Head Neck Surg 2001; 127: 921-925. [Abstract] [Full text] [PDF]  

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