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Academic Journal

Clonal architecture and evolutionary history of Waldenström's macroglobulinemia at the single-cell level.

  • Authors : García-Sanz R; Hematology Department, University Hospital of Salamanca (HUS/IBSAL), CIBERONC and Cancer Research Institute of Salamanca-IBMCC (USAL-CSIC), Salamanca 37007, Spain.; García-Álvarez M

Subjects: Waldenstrom Macroglobulinemia*/Waldenstrom Macroglobulinemia*/Waldenstrom Macroglobulinemia*/diagnosis ; Waldenstrom Macroglobulinemia*/Waldenstrom Macroglobulinemia*/Waldenstrom Macroglobulinemia*/genetics ; Clonal Evolution*

  • Source: Disease models & mechanisms [Dis Model Mech] 2023 Aug 01; Vol. 16 (8). Date of Electronic Publication: 2023 Aug 23.Publisher: Company of Biologists Ltd Country of Publication: England NLM ID: 101483332 Publication Model: Print-Electronic Cited Medium: Internet

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Academic Journal

Establishing the Mutational Spectrum of Hungarian Patients with Familial Hypercholesterolemia.

  • Authors : Madar L; Division of Clinical Genetics, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary.; Doctoral School of Molecular Cell and Immune Biology, University of Debrecen, 4032 Debrecen, Hungary.

Subjects: DNA Copy Number Variations* ; Genetic Markers* ; Genetic Predisposition to Disease*

  • Source: Genes [Genes (Basel)] 2022 Jan 15; Vol. 13 (1). Date of Electronic Publication: 2022 Jan 15.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425

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Academic Journal

The Somatic Mutation Paradigm in Congenital Malformations: Hirschsprung Disease as a Model.

  • Authors : MacKenzie KC; Department of Clinical Genetics, Erasmus University Medical Center-Sophia Children's Hospital, 3000 CA Rotterdam, The Netherlands.; Garritsen R

Subjects: DNA Copy Number Variations* ; Mutation*; Enteric Nervous System/Enteric Nervous System/Enteric Nervous System/*metabolism

  • Source: International journal of molecular sciences [Int J Mol Sci] 2021 Nov 16; Vol. 22 (22). Date of Electronic Publication: 2021 Nov 16.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Academic Journal

Creation of an Expert Curated Variant List for Clinical Genomic Test Development and Validation: A ClinGen and GeT-RM Collaborative Project.

Subjects: DNA Copy Number Variations* ; Gene Rearrangement* ; Genome, Human*

  • Source: The Journal of molecular diagnostics : JMD [J Mol Diagn] 2021 Nov; Vol. 23 (11), pp. 1500-1505. Date of Electronic Publication: 2021 Aug 09.Publisher: Elsevier Country of Publication: United States NLM ID: 100893612 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Molecular profiling of osteosarcoma in children and adolescents from different age groups using a next-generation sequencing panel.

  • Authors : Guimarães GM; Pediatrics Department, Pediatric Oncology Institute/GRAACC (Grupo de Apoio ao Adolescente e à Criança com Câncer), Federal University of Sao Paulo, Sao Paulo, SP, Brazil; Morphology and Genetics Department, Genetics Discipline, Federal University of São Paulo, Sao Paulo, SP, Brazil.

Subjects: DNA Copy Number Variations* ; Genetic Predisposition to Disease* ; Mutation*

  • Source: Cancer genetics [Cancer Genet] 2021 Nov; Vol. 258-259, pp. 85-92. Date of Electronic Publication: 2021 Oct 05.Publisher: Elsevier Country of Publication: United States NLM ID: 101539150 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Human Complement C4B Allotypes and Deficiencies in Selected Cases With Autoimmune Diseases.

  • Authors : Zhou D; Center for Microbial Pathogenesis, Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, OH, United States.; Division of Rheumatology, Nationwide Children's Hospital, Columbus, OH, United States.

Subjects: DNA Copy Number Variations* ; Gene Dosage* ; Mutation*

  • Source: Frontiers in immunology [Front Immunol] 2021 Oct 26; Vol. 12, pp. 739430. Date of Electronic Publication: 2021 Oct 26 (Print Publication: 2021).Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101560960 Publication Model: eCollection Cited Medium: Internet

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Academic Journal

Genomic characterization of rare molecular subclasses of hepatocellular carcinoma.

  • Authors : Damrauer JS; Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Smith MA

Subjects: DNA Copy Number Variations* ; Mutation* ; Transcription, Genetic*

  • Source: Communications biology [Commun Biol] 2021 Oct 04; Vol. 4 (1), pp. 1150. Date of Electronic Publication: 2021 Oct 04.Publisher: Nature Publishing Group UK Country of Publication: England NLM ID: 101719179 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

Identification of putative actionable alterations in clinically relevant genes in breast cancer.

  • Authors : Kaur P; Department of Surgery, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.; Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, CA, USA.

Subjects: DNA Copy Number Variations* ; Gene Regulatory Networks* ; Mutation*

  • Source: British journal of cancer [Br J Cancer] 2021 Oct; Vol. 125 (9), pp. 1270-1284. Date of Electronic Publication: 2021 Aug 28.Publisher: Nature Publishing Group on behalf of Cancer Research UK Country of Publication: England NLM ID: 0370635 Publication Model: Print-Electronic Cited

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Academic Journal

The "Burkitt-like" immunophenotype and genotype is rarely encountered in diffuse large B cell lymphoma and high-grade B cell lymphoma, NOS.

  • Authors : Hüttl KS; Department of Clinical Pathology, Robert-Bosch-Krankenhaus, Auerbachstrasse 110, 70376, Stuttgart, Germany.; Staiger AM

Subjects: Biomarkers, Tumor*/Biomarkers, Tumor*/Biomarkers, Tumor*/analysis ; Biomarkers, Tumor*/Biomarkers, Tumor*/Biomarkers, Tumor*/genetics ; DNA Copy Number Variations*

  • Source: Virchows Archiv : an international journal of pathology [Virchows Arch] 2021 Sep; Vol. 479 (3), pp. 575-583. Date of Electronic Publication: 2021 Mar 02.Publisher: Springer International Country of Publication: Germany NLM ID: 9423843 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Liquid biopsy uncovers distinct patterns of DNA methylation and copy number changes in NSCLC patients with different EGFR-TKI resistant mutations.

  • Authors : Nguyen HN; University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam. .; Cao NT

Subjects: DNA Copy Number Variations* ; DNA Methylation* ; Mutation*

  • Source: Scientific reports [Sci Rep] 2021 Aug 12; Vol. 11 (1), pp. 16436. Date of Electronic Publication: 2021 Aug 12.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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  • 1-10 of  873 results for ""DNA copy number variations""