K
Karen Snow
Researcher at Mayo Clinic
Publications - 41
Citations - 2203
Karen Snow is an academic researcher from Mayo Clinic. The author has contributed to research in topics: Fragile X syndrome & Population. The author has an hindex of 21, co-authored 41 publications receiving 2137 citations. Previous affiliations of Karen Snow include University of Rochester.
Papers
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Book ChapterDOI
Extreme expansion detection in spinocerebellar ataxia type 2 and type 7.
Karen Snow,Rong Mao +1 more
Journal ArticleDOI
THREE NEW VARIANTS OF THE α1-GLOBIN GENE WITHOUT CLINICAL OR HEMATOLOGIC EFFECTS: Hb HAGERSTOWN [α44(CE2)Pro→Ala (α1)]; Hb BUFFALO [α89(FG1)His→Gln (α1)], A HEMOGLOBIN VARIANT FROM SOMALIA AND YEMEN; Hb WICHITA [α95(G2)Pro→Gln (α1)]; AND A SECOND, UNRELATED, CASE OF Hb ROUBAIX [α55(E4)Val→Leu (α1)]
James D. Hoyer,Daniel J. McCormick,Karen Snow,Jack Lawler,Melissa Jadick,Renee Grageda,James L. Early,Carol Ball,Paula Skarda,Kathleen S. Kubik,Michael W. Holmes,Virgil F. Fairbanks +11 more
TL;DR: In this paper, preliminary data for three previously unrecognized hemoglobin (Hb) variants due to mutations of the α1-globin gene, that were initially ascertained by either chromatographic, electrophore, or electrophoresis, were reported.
Journal ArticleDOI
The polymerase chain reaction : applications in dermatology
TL;DR: This review aims to describe the methodology and medical applications of this powerful technique with special consideration to the increasing role PCR may have on dermatologic research and practice.
Journal ArticleDOI
Genetic testing for Niemann-Pick Type C disease
Karen Snow,Walter D. Park,Patrick A. Lundquist,C Walsh Vockley,Marc C. Patterson,Pamela S. Karnes,John F. O'Brien +6 more
TL;DR: The finding of a high degree of mutation heterogeneity with many missense alterations creates difficulties for the clinical application of mutation testing in NPC, and DNA alterations identified in affected patients can be used as linkage markers to determine carrier status of at risk relatives.
Journal ArticleDOI
DNA sequence analysis of Hb Leiden [beta6(A3) or beta7(A4) Glu-->0].
TL;DR: The DNA sequencing results on a patient heterozygous for Hb Leiden are reported, which show the deletion of a glutamic acid residue at either position 6 or 7 of the β chain.