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Academic Journal

Allele-specific transcriptional effects of subclonal copy number alterations enable genotype-phenotype mapping in cancer cells.

  • Authors : Shi H; Computational Oncology, Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Gerstner Sloan Kettering Graduate School of Biomedical Sciences, New York, NY, USA.

Subjects: DNA Copy Number Variations*/DNA Copy Number Variations*/DNA Copy Number Variations*/genetics ; Neoplasms*/Neoplasms*/Neoplasms*/genetics ; Neoplasms*/Neoplasms*/Neoplasms*/pathology

  • Source: Nature communications [Nat Commun] 2024 Mar 20; Vol. 15 (1), pp. 2482. Date of Electronic Publication: 2024 Mar 20.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

Implementation of an ISO15189 accredited next-generation sequencing service with the fully automated Ion Torrent Genexus: the experience of a clinical diagnostic laboratory.

  • Authors : Werner R; Pathology Department, Cork University Hospital, Cork, Ireland .; Department of Pathology, School of Medicine, University College Cork, Cork, Ireland.

Subjects: DNA Copy Number Variations* ; Neoplasms*/Neoplasms*/Neoplasms*/diagnosis ; Neoplasms*/Neoplasms*/Neoplasms*/genetics

  • Source: Journal of clinical pathology [J Clin Pathol] 2024 Mar 20; Vol. 77 (4), pp. 278-283. Date of Electronic Publication: 2024 Mar 20.Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 0376601 Publication Model: Electronic Cited Medium: Internet ISSN: 1472-4146

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Academic Journal

A germline chimeric KANK1-DMRT1 transcript derived from a complex structural variant is associated with a congenital heart defect segregating across five generations.

  • Authors : da Costa SS; Human Genome and Stem-Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil.; Fishman V

Subjects: DNA Copy Number Variations* ; Chromosomes*; Humans

  • Source: Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology [Chromosome Res] 2024 Mar 19; Vol. 32 (2), pp. 6. Date ofPublisher: Kluwer Academic Publishers Country of Publication: Netherlands NLM ID: 9313452 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

Phenotypic Patterning through Copy Number Adaptation to Environmental Gradients.

  • Authors : Steppe P; Department of Bioengineering, University of California San Diego, La Jolla, California 92093, United States.; Rey-Bedón C

Subjects: DNA Copy Number Variations*/DNA Copy Number Variations*/DNA Copy Number Variations*/genetics ; Bacteria*/Bacteria*/Bacteria*/genetics; Plasmids/Plasmids/Plasmids/genetics

  • Source: ACS synthetic biology [ACS Synth Biol] 2024 Mar 15; Vol. 13 (3), pp. 728-735. Date of Electronic Publication: 2024 Feb 08.Publisher: American Chemical Society Country of Publication: United States NLM ID: 101575075 Publication Model: Print-Electronic Cited Medium: Internet

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Academic Journal

[Analysis of X chromosome inactivation and prenatal diagnosis for a Chinese pedigree with loss of heterozygosity at Xq22.1q22.3].

  • Authors : Chen X; Reproductive Center of Taizhou Hospital, Taizhou, Zhejiang 317000, China. .; Zhang W

Subjects: X Chromosome Inactivation* ; DNA Copy Number Variations*; Female

  • Source: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2024 Mar 10; Vol. 41 (3), pp. 326-330.Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print)

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Academic Journal

[Clinical features and genetic analysis of three children with β-ketothiolase deficiency].

  • Authors : Wu X; Department of Endocrinology and Inborn Error of Genetic Metabolism, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, Henan 450053, China. .; Li Y

Subjects: DNA Copy Number Variations* ; Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/genetics; Acetyl-CoA C-Acyltransferase/Acetyl-CoA C-Acyltransferase/Acetyl-CoA C-Acyltransferase/*deficiencyBeta ketothiolase deficiency

  • Source: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2024 Mar 10; Vol. 41 (3), pp. 289-293.Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print)

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Academic Journal

Correlation between large rearrangements and patient phenotypes in NF1 deletion syndrome: an update and review.

  • Authors : Pacot L; Fédération de Génétique et Médecine Génomique, Hôpital Cochin, DMU BioPhyGen, AP-HP, Centre-Université Paris Cité, Paris, France.; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France.

Subjects: DNA Copy Number Variations* ; Skin Neoplasms*; Humans

  • Source: BMC medical genomics [BMC Med Genomics] 2024 Mar 06; Vol. 17 (1), pp. 73. Date of Electronic Publication: 2024 Mar 06.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794

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Academic Journal

Evolving copy number gains promote tumor expansion and bolster mutational diversification.

  • Authors : Wang Z; Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN, USA.; Masonic Cancer Center, University of Minnesota, Minneapolis, MN, USA.

Subjects: DNA Copy Number Variations*/DNA Copy Number Variations*/DNA Copy Number Variations*/genetics ; Point Mutation*; Humans

  • Source: Nature communications [Nat Commun] 2024 Mar 06; Vol. 15 (1), pp. 2025. Date of Electronic Publication: 2024 Mar 06.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

Genome copy number predicts extreme evolutionary rate variation in plant mitochondrial DNA.

  • Authors : Zwonitzer KD; Department of Integrative Biology, The University of Texas at Austin, Austin, TX 78712.; Tressel LG

Subjects: DNA Copy Number Variations*/DNA Copy Number Variations*/DNA Copy Number Variations*/genetics ; Genome*; Animals

  • Source: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2024 Mar 05; Vol. 121 (10), pp. e2317240121. Date of Electronic Publication: Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print-Electronic Cited Medium: Internet

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Academic Journal

A genome-wide study of gastric intramucosal neoplasia based on somatic copy number alterations, gene mutations, and mRNA expression patterns.

  • Authors : Koike Y; Department of Molecular Diagnostic Pathology, School of Medicine, Iwate Medical University, Shiwagun'yahabachou, Japan.; Osakabe M

Subjects: DNA Copy Number Variations*/DNA Copy Number Variations*/DNA Copy Number Variations*/genetics ; Stomach Neoplasms*/Stomach Neoplasms*/Stomach Neoplasms*/genetics ; Stomach Neoplasms*/Stomach Neoplasms*/Stomach Neoplasms*/pathology

  • Source: The journal of pathology. Clinical research [J Pathol Clin Res] 2024 Mar; Vol. 10 (2), pp. e12368.Publisher: Wiley Blackwell Country of Publication: England NLM ID: 101658534 Publication Model: Print Cited Medium: Internet ISSN: 2056-4538

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  • 1-10 of  21,276 results for ""DNA copy number variations""