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Items: 1 to 20 of 222

1.
7p22.2 Microduplication: A Pathogenic CNV?
Alessia Bauleo, Alberto Montesanto, Vincenza Pace, Francesco Guarasci, Rosalbina Apa, Rossella Brando, Laura De Stefano, Simona Sestito, Daniela Concolino, Elena Falcone
Genes (Basel) 2023 Jun; 14(6): 1292. Published online 2023 Jun 19. doi: 10.3390/genes14061292
PMCID:
PMC10297997
ArticlePDF–918K
2.
ACT-Discover: identifying karyotype heterogeneity in pancreatic cancer evolution using ctDNA
Ariana Huebner, James R. M. Black, Francesca Sarno, Roberto Pazo, Ignacio Juez, Laura Medina, Rocio Garcia-Carbonero, Carmen Guillén, Jaime Feliú, Carolina Alonso, Carlota Arenillas, Ana Belén Moreno-Cárdenas, Helena Verdaguer, Teresa Macarulla, Manuel Hidalgo, Nicholas McGranahan, Rodrigo A. Toledo
Genome Med. 2023; 15: 27. Published online 2023 Apr 20. doi: 10.1186/s13073-023-01171-w
PMCID:
PMC10120117
ArticlePDF–7.4M
3.
高超二倍体核型儿童急性淋巴细胞白血病的临床特征及预后: ——福建省多中心回顾性研究
蔡 春霞, 郑 湧智, 李 健, 温 红, 翁 开枝, 庄 树铨, 吴 兴国, 乐 少华
Zhongguo Dang Dai Er Ke Za Zhi. 2023 Jan 15; 25(1): 38–45. Chinese. doi: 10.7499/j.issn.1008-8830.2208126
PMCID:
PMC9893819
ArticlePDF–790K
4.
Clinical, Histopathologic and Genetic Features of Rhabdoid Meningiomas
Patricia Alejandra Garrido Ruiz, María González-Tablas, Alejandro Pasco Peña, María Victoria Zelaya Huerta, Javier Ortiz, Álvaro Otero, Luis Antonio Corchete, María Dolores Ludeña, María Cristina Caballero Martínez, Alicia Córdoba Iturriagagoitia, Inmaculada Catalina Fernández, Joaquín González-Carreró Fojón, Aurelio Hernández Laín, Alberto Orfao, María Dolores Tabernero
Int J Mol Sci. 2023 Jan; 24(2): 1116. Published online 2023 Jan 6. doi: 10.3390/ijms24021116
PMCID:
PMC9865044
ArticlePDF–1.8M
5.
A pure de novo 16p13.3 duplication and amplification in a patient with femoral hypoplasia, psychomotor retardation, heart defect, and facial dysmorphism—a case report and literature review of the partial 16p13.3 trisomy syndrome
Magdalena Socha, Anna Szoszkiewicz, Dorota Simon, Aleksander Jamsheer
J Appl Genet. 2023; 64(1): 125–134. Published online 2022 Dec 31. doi: 10.1007/s13353-022-00743-7
PMCID:
PMC9837002
ArticlePDF–2.2M
6.
Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype–phenotype association
Maria Chiara Pelleri, Chiara Locatelli, Teresa Mattina, Maria Clara Bonaglia, Francesca Piazza, Pamela Magini, Francesca Antonaros, Giuseppe Ramacieri, Beatrice Vione, Lorenza Vitale, Marco Seri, Pierluigi Strippoli, Guido Cocchi, Allison Piovesan, Maria Caracausi
BMC Med Genomics. 2022; 15: 266. Published online 2022 Dec 21. doi: 10.1186/s12920-022-01422-6
PMCID:
PMC9768891
ArticlePDF–2.2M
7.
MEDICC2: whole-genome doubling aware copy-number phylogenies for cancer evolution
Tom L. Kaufmann, Marina Petkovic, Thomas B. K. Watkins, Emma C. Colliver, Sofya Laskina, Nisha Thapa, Darlan C. Minussi, Nicholas Navin, Charles Swanton, Peter Van Loo, Kerstin Haase, Maxime Tarabichi, Roland F. Schwarz
Genome Biol. 2022; 23: 241. Published online 2022 Nov 14. doi: 10.1186/s13059-022-02794-9
PMCID:
PMC9661799
ArticlePDF–4.2M
8.
STAG2 Expression is Associated with Adverse Survival Outcomes and Regulates Cell Phenotype in Muscle-invasive Bladder Cancer
Sarah R. Athans, Nithya Krishnan, Swathi Ramakrishnan, Eduardo Cortes Gomez, Sofía Lage-Vickers, Monika Rak, Zara I. Kazmierczak, Joyce Ellen Ohm, Kristopher Attwood, Jianmin Wang, Anna Woloszynska
Cancer Res Commun. 2022 Oct; 2(10): 1129–1143. Published online 2022 Oct 6. doi: 10.1158/2767-9764.CRC-22-0155
PMCID:
PMC9583756
ArticlePDF–12M
9.
Pathophysiologic and clinical implications of molecular profiles resultant from deletion 5q
Vera Adema, Laura Palomo, Wencke Walter, Mar Mallo, Stephan Hutter, Thomas La Framboise, Leonor Arenillas, Manja Meggendorfer, Tomas Radivoyevitch, Blanca Xicoy, Andrea Pellagatti, Claudia Haferlach, Jacqueline Boultwood, Wolfgang Kern, Valeria Visconte, Mikkael Sekeres, John Barnard, Torsten Haferlach, Francesc Solé, Jaroslaw P. Maciejewski
eBioMedicine. 2022 Jun; 80: 104059. Published online 2022 May 23. doi: 10.1016/j.ebiom.2022.104059
PMCID:
PMC9130225
ArticlePDF–2.9M
10.
Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly
Amal M. Mohamed, Alaa K. Kamel, Maha M. Eid, Ola M. Eid, Mona Mekkawy, Shymaa H. Hussein, Maha S. Zaki, Samira Esmail, Hanan H. Afifi, Ghada Y. El‐Kamah, Ghada A. Otaify, Heba Ahmed El‐Awady, Aya Elaidy, Mahmoud Y. Essa, Mona El‐Ruby, Engy A. Ashaat, Saida A. Hammad, Inas Mazen, Ghada M. H. Abdel‐Salam, Mona Aglan, Samia Temtamy
Mol Genet Genomic Med. 2021 Nov; 9(11): e1829. Published online 2021 Oct 5. doi: 10.1002/mgg3.1829
PMCID:
PMC8606205
ArticlePDF–1.8M
11.
Defining low-risk high hyperdiploidy in patients with paediatric acute lymphoblastic leukaemia: a retrospective analysis of data from the UKALL97/99 and UKALL2003 clinical trials
Amir Enshaei, Ajay Vora, Christine J Harrison, John Moppett, Anthony V Moorman
Lancet Haematol. 2021 Nov; 8(11): e828–e839. Published online 2021 Oct 26. doi: 10.1016/S2352-3026(21)00304-5
Correction in:
Lancet Haematol. 2021 Dec; 8(12): e874.
PMCID:
PMC8567211
ArticlePDF–1.1M
12.
Chromosome 3p loss of heterozygosity and reduced H3K36me3 correlate with longer relapse free survival in sacral conventional chordoma
Guo Gord Zhu, Daniel Ramirez, Wen Chen, Chao Lu, Lu Wang, Frosina Denise, Achim Jungbluth, Peter Ntiamoah, Khedoudja Nafa, Patrick J. Boland, Meera R. Hameed
Hum Pathol. Author manuscript; available in PMC 2021 Oct 1.
Published in final edited form as: Hum Pathol. 2020 Oct; 104: 73–83. Published online 2020 Aug 12. doi: 10.1016/j.humpath.2020.07.002
PMCID:
PMC8366418
ArticlePDF–2.0M
13.
Favorable Trisomies and ETV6-RUNX1 Predict Cure in Low-Risk B-Cell Acute Lymphoblastic Leukemia: Results From Children's Oncology Group Trial AALL0331
Leonard A. Mattano, Jr, Meenakshi Devidas, Kelly W. Maloney, Cindy Wang, Alison M. Friedmann, Patrick Buckley, Michael J. Borowitz, Andrew J. Carroll, Julie M. Gastier-Foster, Nyla A. Heerema, Nina S. Kadan-Lottick, Yousif H. Matloub, David T. Marshall, Linda C. Stork, Mignon L. Loh, Elizabeth A. Raetz, Brent L. Wood, Stephen P. Hunger, William L. Carroll, Naomi J. Winick
J Clin Oncol. 2021 May 10; 39(14): 1540–1552. Published online 2021 Mar 19. doi: 10.1200/JCO.20.02370
PMCID:
PMC8274747
ArticlePDF–551K
14.
Optimizing the Diagnostic Strategy to Identify Genetic Abnormalities in Miscarriage
Jong-Mi Lee, So Young Shin, Guk Won Kim, Woo Jeng Kim, Jeong Ha Wie, Subeen Hong, Dain Kang, Hayoung Choi, Jisook Yim, Yonggoo Kim, Myungshin Kim, In Yang Park
Mol Diagn Ther. 2021; 25(3): 351–359. Published online 2021 Apr 1. doi: 10.1007/s40291-021-00523-9
PMCID:
PMC8139896
ArticlePDF–910K
15.
Ethnic-specific reference range affects the efficacy of quadruple test as a universal screening for Down syndrome in a developing country
Savitree Pranpanus, Ounjai Kor-anantakul, Thitima Suntharasaj, Chitkasaem Suwanrath, Tharangrut Hanprasertpong, Ninlapa Pruksanusak, Chusana Petpichetchian, Manaphat Suksai, Natthicha Chainarong, Rapphon Sawaddisan
PLoS One. 2021; 16(5): e0251381. Published online 2021 May 13. doi: 10.1371/journal.pone.0251381
PMCID:
PMC8118253
ArticlePDF–2.2M
16.
Hemophagocytic lymphohistiocytosis and myelodysplastic syndrome: a case report and review of the literature
Y. Sun, C. Blieden, B. Y. Merritt, R. Sosa, Gustavo Rivero
J Med Case Rep. 2021; 15: 98. Published online 2021 Mar 1. doi: 10.1186/s13256-020-02623-2
PMCID:
PMC7919086
ArticlePDF–993K
17.
Tumor-intrinsic and -extrinsic determinants of response to blinatumomab in adults with B-ALL
Yaqi Zhao, Ibrahim Aldoss, Chunxu Qu, Jeremy Chase Crawford, Zhaohui Gu, Emma K. Allen, Anthony E. Zamora, Thomas B. Alexander, Jeremy Wang, Hiroaki Goto, Toshihiko Imamura, Koshi Akahane, Guido Marcucci, Anthony S. Stein, Ravi Bhatia, Paul G. Thomas, Stephen J. Forman, Charles G. Mullighan, Kathryn G. Roberts
Blood. 2021 Jan 28; 137(4): 471–484. Prepublished online 2020 Sep 3. doi: 10.1182/blood.2020006287
PMCID:
PMC7845009
Article
18.
Partial pathogenicity chromosomes in Fusarium oxysporum are sufficient to cause disease and can be horizontally transferred
Jiming Li, Like Fokkens, Lee James Conneely, Martijn Rep
Environ Microbiol. 2020 Dec; 22(12): 4985–5004. Published online 2020 Jun 14. doi: 10.1111/1462-2920.15095
PMCID:
PMC7818268
ArticlePDF–4.5M
19.
Daratumumab, lenalidomide, and dexamethasone in relapsed/refractory myeloma: a cytogenetic subgroup analysis of POLLUX
Jonathan L. Kaufman, Meletios A. Dimopoulos, Darrell White, Lotfi Benboubker, Gordon Cook, Merav Leiba, James Morton, P. Joy Ho, Kihyun Kim, Naoki Takezako, Philippe Moreau, Heather J. Sutherland, Hila Magen, Shinsuke Iida, Jin Seok Kim, H. Miles Prince, Tara Cochrane, Albert Oriol, Nizar J. Bahlis, Ajai Chari, Lisa O’Rourke, Sonali Trivedi, Tineke Casneuf, Maria Krevvata, Jon Ukropec, Rachel Kobos, Hervé Avet-Loiseau, Saad Z. Usmani, Jesus San-Miguel
Blood Cancer J. 2020 Nov; 10(11): 111. Published online 2020 Nov 3. doi: 10.1038/s41408-020-00375-2
PMCID:
PMC7643179
ArticlePDF–668K
20.
Frequent Aneuploidy in Primary Human T Cells after CRISPR-Cas9 cleavage
A.D. Nahmad, E. Reuveni, E. Goldschmidt, T. Tenne, M. Liberman, M. Horovitz-Fried, R. Khosravi, H. Kobo, E. Reinstein, A. Madi, U. Ben-David, A. Barzel
Nat Biotechnol. Author manuscript; available in PMC 2022 Dec 30.
Published in final edited form as: Nat Biotechnol. 2022 Dec; 40(12): 1807–1813. Published online 2022 Jun 30. doi: 10.1038/s41587-022-01377-0
PMCID:
PMC7613940
ArticlePDF–6.1M

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