Genetic Counseling/ Testing/ Therapy

Contributing journals to this collection:
JAMA & Archives Journals

Citations 581-590 of 718 total displayed.

Past content

Observations
An Apparently Sporadic Case With Parkin Gene Mutation in a Korean Woman

Beom S. Jeon; Jong-Min Kim; Dong-Soo Lee; Nobutaka Hattori; Yoshikuni Mizuno
Arch Neurol 2001; 58: 988-989. [Abstract] [Full text] [PDF]  

Observations
A Family With X-linked Dystonia-Deafness Syndrome With a Novel Mutation of the DDP Gene

Hiroshi Ujike; Yasuyuki Tanabe; Yasushi Takehisa; Toshiyuki Hayabara; Shigetoshi Kuroda
Arch Neurol 2001; 58: 1004-1007. [Abstract] [Full text] [PDF]  

Original Contributions
Prevalence of C282Y and H63D Mutations in the Hemochromatosis (HFE) Gene in the United States

Karen K. Steinberg; Mary E. Cogswell; Joy C. Chang; Samuel P. Caudill; Geraldine M. McQuillan; Barbara A. Bowman; Laurence M. Grummer-Strawn; Eric J. Sampson; Muin J. Khoury; Margaret L. Gallagher
JAMA 2001; 285: 2216-2222. [Abstract] [Full text] [PDF]  

Studies
Factor V Leiden Mutation in Postthrombotic and Non-postthrombotic Venous Ulcers

Jürg Hafner; Andreas Kühne; Beatrice Schär; Thomas Bombeli; Markus Hauser; René Lüthi; Edgar Hänseler
Arch Dermatol 2001; 137: 599-603. [Abstract] [Full text] [PDF]  

Clinical Sciences
Assessment of Visual Function in Patients With Gyrate Atrophy Who Are Considered Candidates for Gene Replacement

Rafael C. Caruso; Robert B. Nussenblatt; Karl G. Csaky; David Valle; Muriel I. Kaiser-Kupfer
Arch Ophthalmol 2001; 119: 667-669. [Abstract] [Full text] [PDF]  

Basic Science Seminars in Neurology
Therapeutic Interventions Following Mammalian Spinal Cord Injury

Alexander G. Rabchevsky; George M. Smith
Arch Neurol 2001; 58: 721-726. [Extract] [Full text] [PDF]  

Original Contributions
Familial Amyotrophic Lateral Sclerosis With a Novel Leu126Ser Mutation in the Copper/Zinc Superoxide Dismutase Gene Showing Mild Clinical Features and Lewy Body–Like Hyaline Inclusions

Yasushi Takehisa; Hiroshi Ujike; Hideki Ishizu; Seishi Terada; Takashi Haraguchi; Yuji Tanaka; Tetsuya Nishinaka; Keigo Nobukuni; Yuetsu Ihara; Reiko Namba; Takeshi Yasuda; Masahiro Nishibori; Toshiyuki Hayabara; Shigetoshi Kuroda
Arch Neurol 2001; 58: 736-740. [Abstract] [Full text] [PDF]  

Ophthalmic Molecular Genetics
Variation of Codons 1961 and 2177 of the Stargardt Disease Gene Is Not Associated With Age-Related Macular Degeneration

Robyn H. Guymer; Elise Héon; Andrew J. Lotery; Francis L. Munier; Daniel F. Schorderet; Paul N. Baird; Robyn J. McNeil; Heidi Haines; Val C. Sheffield; Edwin M. Stone
Arch Ophthalmol 2001; 119: 745-751. [Abstract] [Full text] [PDF]  

Original Contributions
Neurologic and Psychiatric Manifestations in a Family With a Mutation in Exon 2 of the Guanosine Triphosphate–Cyclohydrolase Gene

Heidi Hahn; Melissa R. Trant; Michael J. Brownstein; R. Andrew Harper; Sheldon Milstien; Ian J. Butler
Arch Neurol 2001; 58: 749-755. [Abstract] [Full text] [PDF]  

Original Contributions
Improvement in Chronic Ischemic Neuropathy After Intramuscular phVEGF₁₆₅ Gene Transfer in Patients With Critical Limb Ischemia

Drasko Simovic; Jeffrey M. Isner; Allan H. Ropper; Ann Pieczek; David H. Weinberg
Arch Neurol 2001; 58: 761-768. [Abstract] [Full text] [PDF]  

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