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检索条件"主题词=single nucleotide polymorphism array"
121 条 记 录,以下是71-80 订阅
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Mutational profiling of acute myeloid leukemia with normal cytogenetics in Brazilian patients: the value of next-generation sequencing for genomic classification
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JOURNAL OF INVESTIGATIVE MEDICINE 2017年 第8期65卷 1155-1158页
作者: de Noronha, Thiago Rodrigo Mitne-Neto, Miguel Chauffaille, Maria de Lourdes Univ Fed Sao Paulo Div Hematol BR-4037002 Sao Paulo Brazil Fleury Grp Res & Dev Sao Paulo Brazil
Karyotype (KT) aberrations are important prognostic factors for acute myeloid leukemia (AML);however, around 50% of cases present normal results. single nucleotide polymorphism array can detect chromosomal gains, loss... 详细信息
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Landscape of somatic allelic imbalances and copy number alterations in HER2-amplified breast cancer
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BREAST CANCER RESEARCH 2011年 第6期13卷 1-15页
作者: Staaf, Johan Jonsson, Goran Ringner, Markus Baldetorp, Bo Borg, Ake Lund Univ Dept Oncol SE-22185 Lund Sweden Skane Univ Hosp SE-22185 Lund Sweden Lund Univ CREATE Hlth Strateg Ctr Translat Canc Res SE-22184 Lund Sweden Lund Univ Biomed Ctr Lund Strateg Res Ctr Stem Cell Biol & Cell Therap SE-22184 Lund Sweden
Introduction: Human epidermal growth factor receptor 2 (HER2)-amplified breast cancer represents a clinically well-defined subgroup due to availability of targeted treatment. However, HER2-amplified tumors have been s... 详细信息
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Maternally inherited deletion encompassing the RTL1as and MEG8 genes of the human 14q32 imprinted region in a patient with a mild Kagami-Ogata syndrome phenotype
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AMERICAN JOURNAL OF MEDICAL GENETICS PART A 2023年 第8期191卷 2225-2231页
作者: Sirera, Paula Sirera Garcia-Paya, Elena Garcia, Julia Olivas Rodriguez, Rocio Jadraque Romero, Sofia Daniela Hernandez Hosp Gen Univ Dr Balmis Alicante Lab Mol Cytogenet Inst Invest Sanitaria & Biomed Alicante ISABIAL Alicante Spain Hosp Gen Univ Dr Balmis Alicante Dept Pediat Inst Invest Sanitaria & Biomed Alicante ISABIAL Alicante Spain
Kagami-Ogata syndrome and Temple syndrome are imprinting disorders caused by the abnormal expression of genes in an imprinted cluster on chromosome 14q32. Here, we report a female with mild features of the Kagami-Ogat... 详细信息
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Copy number variation and genomic alterations in health and disease
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GENOME MEDICINE 2009年 第2期1卷 1-4页
作者: Patrinos, George P. Petersen, Michael B. Erasmus MC Dept Cell Biol & Genet Ctr Med Genet Fac Med & Hlth Sci NL-3000 CA Rotterdam Netherlands Univ Patras Fac Hlth Sci Dept Pharm GR-26504 Patras Greece Inst Child Hlth Dept Genet Athens 11526 Greece
A report of the 1st GOLDEN HELIX Symposium 'Copy number variation and genomic alterations in health and disease', Athens, Greece, 28-29 November 2008.
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Interpretation of custom designed Illumina genotype cluster plots for targeted association studies and next-generation sequence validation
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BMC Research Notes 2010年 第1期3卷 1-6页
作者: Tindall, Elizabeth A Petersen, Desiree C Nikolaysen, Stina Miller, Webb Schuster, Stephan C Hayes, Vanessa M Cancer Genetics Group Children's Cancer Institute Australia for Medical Research Sydney Children's Hospital Randwick NSW 2031 High Street Australia Faculty of Medicine University of New South Wales Randwick NSW 2031 Australia Faculty of Science University of New South Wales Randwick NSW 2031 Australia Pennsylvania State University Center for Comparative Genomics and Bioinformatics University Park PA 16802 United States
Background. High-throughput custom designed genotyping arrays are a valuable resource for biologically focused research studies and increasingly for validation of variation predicted by next-generation sequencing (NGS... 详细信息
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Laser capture microdissection (LCM) and whole genome amplification (WGA) of DNA from normal breast tissue - Optimization for genome wide array analyses
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BMC Research Notes 2011年 第1期4卷 1-7页
作者: Aaltonen, Kristina E. Ebbesson, Anna Wigerup, Caroline Hedenfalk, Ingrid Department of Oncology Clinical Sciences Lund Lund University Barngatan 2B Lund SE-221 85 Sweden Department of Laboratory Medicine Center for Molecular Pathology Lund University University Hospital MAS Malmö SE-20502 Sweden
Background: Laser capture microdissection (LCM) can be applied to tissues where cells of interest are distinguishable from surrounding cell populations. Here, we have optimized LCM for fresh frozen normal breast tissu... 详细信息
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Genomic study of the response of chicken to highly pathogenic avian influenza virus
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BMC Proceedings 2011年 第4期5卷 1-4页
作者: Sironi, Laura Williams, John L. Stella, Alessandra Minozzi, Giulietta Moreno, Ana Ramelli, Paola Han, Jianlin Weigend, Steffen Wan, Junxing Lombardi, Guerino Cordioli, Paolo Mariani, Paola Parco Tecnologico Padano Lodi 26900 Italy Animal Health Department Istituto Zooprofilattico Sperimentale della Lombardia e dell'Emilia Romagna Bruno Ubertini Brescia 25124 Italy CAAS-ILRI Joint Laboratory on Livestock and Forage Genetic Resources Institute of Animal Science Chinese Academy of Agricultural Sciences (CAAS) Beijing 100193 China Institute of Farm Animal Genetics Friedrich Loeffler Institut Mariensee D-31535 Germany DIPAV Università degli Studi di Milano Milano 20133 Italy IBBACNR Lodi 26900 Italy
Background: The host mounts an immune response to pathogens, but few data are currently available on the role of host genetics in variation in response to avian influenza (AI). The study presented here investigated th... 详细信息
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Small Intestinal Neuroendocrine Tumor: A Rare Malignancy with Favorable Outcome
Small Intestinal Neuroendocrine Tumor: A Rare Malignancy wit...
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作者: OLOV NORLEN Uppsala University
学位级别:博士
Small intestinal neuroendocrine tumor (SI-NET) is the most common small bowel tumor in Europe and USA, with an annual incidence of around 0.3-1.3/100000 persons. SI-NETs are the most common type of gastroenteropancrea... 详细信息
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Analysis and visualization of chromosomal abnormalities in SNP data with SNPscan
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BMC BIOINFORMATICS 2006年 第1期7卷 25-25页
作者: Ting, JC Ye, Y Thomas, GH Ruczinski, I Pevsner, J Kennedy Krieger Inst Dept Neurol Baltimore MD 21205 USA Johns Hopkins Sch Med Pathobiol Grad Program Baltimore MD 21205 USA Johns Hopkins Sch Med Dept Pediat Baltimore MD 21205 USA Johns Hopkins Sch Med Dept Pathol Baltimore MD 21205 USA Kennedy Krieger Inst Dept Genet Baltimore MD 21205 USA Johns Hopkins Bloomberg Sch Publ Hlth Dept Biostat Baltimore MD 21205 USA Johns Hopkins Sch Med Dept Neurosci Baltimore MD 21205 USA
Background: A variety of diseases are caused by chromosomal abnormalities such as aneuploidies ( having an abnormal number of chromosomes), microdeletions, microduplications, and uniparental disomy. High density singl... 详细信息
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Comparison of genotype clustering tools with rare variants
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BMC BIOINFORMATICS 2014年 第1期15卷 1-12页
作者: Perreault, Louis-Philippe Lemieux Legault, Marc-Andre Barhdadi, Amina Provost, Sylvie Normand, Valerie Tardif, Jean-Claude Dube, Marie-Pierre Beaulieu Saucier Univ Montreal Pharmacogen Ctr Montreal Heart Inst Res Ctr Montreal PQ Canada Univ Montreal Fac Med Montreal PQ H3C 3J7 Canada
Background: Along with the improvement of high throughput sequencing technologies, the genetics community is showing marked interest for the rare variants/common diseases hypothesis. While sequencing can still be proh... 详细信息
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