Prenatal characterization of a novel inverted SMAD2 duplication by mate pair sequencing in a fetus with dextrocardia.
Autorzy:
Zepeda-Mendoza CJ; Cytogenetics and Genomic Microarray Laboratory ARUP Laboratories Salt Lake City UT USA. Essendrup A; Division of Laboratory Genetics Department of Laboratory Medicine and Pathology, Mayo Clinic Rochester MN USA. SmoleySA; Division of Laboratory Genetics Department of Laboratory Medicine and Pathology, Mayo Clinic Rochester MN USA. Johnson SH; Center for Individualized Medicine-Biomarker Discovery, Mayo Clinic Rochester MN USA. Hoppman NL; Division of Laboratory Genetics Department of Laboratory Medicine and Pathology, Mayo Clinic Rochester MN USA. Vasmatzis G; Center for Individualized Medicine-Biomarker Discovery, Mayo Clinic Rochester MN USA.; Department of Molecular Medicine Mayo Clinic Rochester MN USA. Jackson DL; Department of Obstetrics, Gynecology and Women's Health University of Missouri Health Columbia MO USA. Kearney HM; Division of Laboratory Genetics Department of Laboratory Medicine and Pathology, Mayo Clinic Rochester MN USA. Baughn LB; Division of Laboratory Genetics Department of Laboratory Medicine and Pathology, Mayo Clinic Rochester MN USA.
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Źródło:
Clinical case reports [Clin Case Rep] 2020 Dec 10; Vol. 9 (2), pp. 769-774. Date of Electronic Publication: 2020 Dec 10 (Print Publication: 2021).
Mate pair sequencing improves detection of genomic abnormalities in acute myeloid leukemia.
Autorzy:
Aypar U; Department of Laboratory Medicine and Pathology, Division of Laboratory Genetics, Mayo Clinic, Rochester, Minnesota. SmoleySA; Department of Laboratory Medicine and Pathology, Division of Laboratory Genetics, Mayo Clinic, Rochester, Minnesota. Pitel BA; Department of Laboratory Medicine and Pathology, Division of Laboratory Genetics, Mayo Clinic, Rochester, Minnesota. Pearce KE; Department of Laboratory Medicine and Pathology, Division of Laboratory Genetics, Mayo Clinic, Rochester, Minnesota. Zenka RM; Bioinformatics Systems, Mayo Clinic, Rochester, Minnesota. Vasmatzis G; Center for Individualized Medicine-Biomarker Discovery, Mayo Clinic, Rochester, Minnesota. Johnson SH; Center for Individualized Medicine-Biomarker Discovery, Mayo Clinic, Rochester, Minnesota. Smadbeck JB; Center for Individualized Medicine-Biomarker Discovery, Mayo Clinic, Rochester, Minnesota. Peterson JF; Department of Laboratory Medicine and Pathology, Division of Laboratory Genetics, Mayo Clinic, Rochester, Minnesota. Geiersbach KB; Department of Laboratory Medicine and Pathology, Division of Laboratory Genetics, Mayo Clinic, Rochester, Minnesota. Van Dyke DL; Department of Laboratory Medicine and Pathology, Division of Laboratory Genetics, Mayo Clinic, Rochester, Minnesota. Thorland EC; Department of Laboratory Medicine and Pathology, Division of Laboratory Genetics, Mayo Clinic, Rochester, Minnesota. Jenkins RB; Department of Laboratory Medicine and Pathology, Division of Laboratory Genetics, Mayo Clinic, Rochester, Minnesota. Ketterling RP; Department of Laboratory Medicine and Pathology, Division of Laboratory Genetics, Mayo Clinic, Rochester, Minnesota. Greipp PT; Department of Laboratory Medicine and Pathology, Division of Laboratory Genetics, Mayo Clinic, Rochester, Minnesota. Kearney HM; Department of Laboratory Medicine and Pathology, Division of Laboratory Genetics, Mayo Clinic, Rochester, Minnesota. Hoppman NL; Department of Laboratory Medicine and Pathology, Division of Laboratory Genetics, Mayo Clinic, Rochester, Minnesota. Baughn LB; Department of Laboratory Medicine and Pathology, Division of Laboratory Genetics, Mayo Clinic, Rochester, Minnesota.
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Źródło:
European journal of haematology [Eur J Haematol] 2019 Jan; Vol. 102 (1), pp. 87-96. Date of Electronic Publication: 2018 Nov 22.
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