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Pediatric spinal ependymoma with chromothripsis of chromosome 6: a case report and review of the literature.

• Authors : Scott KR; Department of Pathology & Anatomical Sciences, University of Missouri-Columbia, 1 Hospital Drive M263, MSB, Columbia, MO, 65212, USA. .; Gener MA

Subjects: Chromothripsis* ; Spinal Cord Neoplasms*/Spinal Cord Neoplasms*/Spinal Cord Neoplasms*/diagnosis ; Spinal Cord Neoplasms*/Spinal Cord Neoplasms*/Spinal Cord Neoplasms*/genetics Familial ependymoma

• Source: Journal of medical case reports [J Med Case Rep] 2024 Feb 14; Vol. 18 (1), pp. 95. Date of Electronic Publication: 2024 Feb 14.Publisher: BioMed Central Country of Publication: England NLM ID: 101293382 Publication Model: Electronic Cited Medium: Internet ISSN: 1752-1947

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Chromothripsis is a novel biomarker for prognosis and differentiation diagnosis of pancreatic neuroendocrine neoplasms

• Authors : Ming‐Yi Zhang; Du He; Yi Zhang

Subjects: chromothripsis; DDR gene; differentiation diagnosis

• Source: MedComm, Vol 5, Iss 7, Pp n/a-n/a (2024)

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Pediatric spinal ependymoma with chromothripsis of chromosome 6: a case report and review of the literature

• Authors : Keela R. Scott; Melissa A. Gener; Elena A. Repnikova

Subjects: Spinal ependymoma; Ependymoma; Pediatrics

• Source: Journal of Medical Case Reports, Vol 18, Iss 1, Pp 1-6 (2024)

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Non-homologous end joining shapes the genomic rearrangement landscape of chromothripsis from mitotic errors

• Authors : Qing Hu; Jose Espejo Valle-Inclán; Rashmi Dahiya

Subjects: Science

• Source: Nature Communications, Vol 15, Iss 1, Pp 1-13 (2024)

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Chromothripsis in lipoblastoma: second reported case with complex PLAG1 rearrangement.

• Authors : Lanceta, Joel¹ (AUTHOR) ; Tripodi, Joseph² (AUTHOR); Karp, Lynne^1,3 (AUTHOR)

• Source: Molecular Cytogenetics (17558166). 11/27/2023, Vol. 16 Issue 1, p1-7. 7p.

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Chromothripsis in lipoblastoma: second reported case with complex PLAG1 rearrangement

• Authors : Joel Lanceta; Joseph Tripodi; Lynne Karp

Subjects: Chromothripsis; Lipoblastoma (LPB); FISH

• Source: Molecular Cytogenetics, Vol 16, Iss 1, Pp 1-7 (2023)

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Constitutional Chromothripsis on Chromosome 2: A Rare Case with Severe Presentation.

• Authors : Hasnain, Afia¹ (AUTHOR); Thompson, Laura L.² (AUTHOR); Hoppman, Nicole L.² (AUTHOR)

• Source: Case Reports in Genetics. 1/30/2024, p1-6. 6p.

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Long-read sequencing reveals chromothripsis in a molecularly unsolved case of Cornelia de Lange syndrome

• Authors : Ilaria Bestetti; Milena Crippa; Alessandra Sironi

Subjects: long-read sequencing; NIPBL; Cornelia de Lange syndrome

• Source: Frontiers in Genetics, Vol 15 (2024)

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Chromosomal Rearrangements and Chromothripsis: The Alternative End Generation Model.

• Authors : de Groot D; Division of Tumor Biology and Immunology, The Netherlands Cancer Institute, Plesmanlaan 121, 1066 CX Amsterdam, The Netherlands.; Spanjaard A

Subjects: Chromothripsis*; Humans ; Chromosome Aberrations

• Source: International journal of molecular sciences [Int J Mol Sci] 2023 Jan 02; Vol. 24 (1). Date of Electronic Publication: 2023 Jan 02.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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染色体碎裂与肿瘤发生的研究进展.

• Authors : 孟环亮¹; 穆浩然¹; 姜亚飞¹

• Source: China Oncology. Apr2023, Vol. 33 Issue 4, p388-396. 9p.

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