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Amplification-free long-read sequencing of TCF4 expanded trinucleotide repeats in Fuchs Endothelial Corneal Dystrophy.

Autor: Wieben ED; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, Minnesota, United States of America., Aleff RA; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, Minnesota, United States of America., Basu S; Division of Biostatistics and Bioinformatics and Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America., Sarangi V; Division of Biostatistics and Bioinformatics and Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America., Bowman B; Pacific Biosciences of California, Inc., Menlo Park, CA, United States of America., McLaughlin IJ; Pacific Biosciences of California, Inc., Menlo Park, CA, United States of America., Mills JR; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States of America., Butz ML; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States of America., Highsmith EW; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States of America., Ida CM; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States of America., Ekholm JM; Pacific Biosciences of California, Inc., Menlo Park, CA, United States of America., Baratz KH; Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota, United States of America., Fautsch MP; Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota, United States of America.

Publikováno v: PloS one [PLoS One] 2019 Jul 05; Vol. 14 (7), pp. e0219446. Date of Electronic Publication: 2019 Jul 05 (Print Publication: 2019).

Real-Time Methylation-Specific Polymerase Chain Reaction for MGMT Promoter Methylation Clinical Testing in Glioblastoma: An Alternative Detection Method for a Heterogeneous Process.

Autor: Ida CM; Departments of Laboratory Medicine and Pathology., Butz ML; Departments of Laboratory Medicine and Pathology., Jenkins RB; Departments of Laboratory Medicine and Pathology.; Biochemistry and Molecular Biology., Sarkaria JN; Radiation Oncology, Mayo Clinic, Rochester, MN., Kitange GJ; Radiation Oncology, Mayo Clinic, Rochester, MN., Giannini C; Departments of Laboratory Medicine and Pathology., Kipp BR; Departments of Laboratory Medicine and Pathology.; Clinical Genomics.

Publikováno v: American journal of clinical pathology [Am J Clin Pathol] 2017 Oct 01; Vol. 148 (4), pp. 296-307.

SERPINA1 Full-Gene Sequencing Identifies Rare Mutations Not Detected in Targeted Mutation Analysis.

Autor: Graham RP; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Dina MA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Howe SC; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Butz ML; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Willkomm KS; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Murray DL; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Snyder MR; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Rumilla KM; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota; Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota., Halling KC; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Highsmith WE Jr; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota; Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota. Electronic address: highsmith.w@mayo.edu.

Publikováno v: The Journal of molecular diagnostics : JMD [J Mol Diagn] 2015 Nov; Vol. 17 (6), pp. 689-94. Date of Electronic Publication: 2015 Aug 28.

Trinucleotide Repeat Expansion in the TCF4 Gene in Fuchs' Endothelial Corneal Dystrophy in Japanese.

Autor: Nakano M; Department of Genomic Medical Sciences Kyoto Prefectural University of Medicine, Kyoto, Japan., Okumura N; Department of Biomedical Engineering, Faculty of Life and Medical Sciences, Doshisha University, Kyotanabe, Japan 3Department of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan., Nakagawa H; Department of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan., Koizumi N; Department of Biomedical Engineering, Faculty of Life and Medical Sciences, Doshisha University, Kyotanabe, Japan., Ikeda Y; Department of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan., Ueno M; Department of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan., Yoshii K; Department of Medical Statistics, Kyoto Prefectural University of Medicine, Kyoto, Japan., Adachi H; Department of Genomic Medical Sciences Kyoto Prefectural University of Medicine, Kyoto, Japan., Aleff RA; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, Minnesota, United States., Butz ML; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, United States., Highsmith WE; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, United States., Tashiro K; Department of Genomic Medical Sciences Kyoto Prefectural University of Medicine, Kyoto, Japan., Wieben ED; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, Minnesota, United States., Kinoshita S; Department of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan., Baratz KH; Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota, United States.

Publikováno v: Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2015 Jul; Vol. 56 (8), pp. 4865-9.