Publications:

Spectrum and clinical features of gene mutations in Chinese pediatric acute lymphoblastic leukemia.

Bmc Pediatrics

Shen, Diying D; Liu, Lixia L; Xu, Xiaojun X; Song, Hua H; Zhang, Jingying J; Xu, Weiqun W; Zhao, Fenying F; Liang, Juan J; Liao, Chan C; Wang, Yan Y; Xia, Tian T; Wang, Chengcheng C; Lou, Feng F; Cao, Shanbo S; Qin, Jiayue J; Tang, Yongmin Y

Publication Date: 2023-02-04

Variant appearance in text: NOTCH1: 7470C>A; Y2490X

PubMed Link: 36739388

Variant Present in the following documents:

• 12887_2023_3856_MOESM2_ESM.xlsx, sheet 1

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Chromothripsis is a frequent event and underlies typical genetic changes in early T-cell precursor lymphoblastic leukemia in adults.

Leukemia

Arniani, Silvia S; Pierini, Valentina V; Pellanera, Fabrizia F; Matteucci, Caterina C; Di Giacomo, Danika D; Bardelli, Valentina V; Quintini, Martina M; Mavridou, Elena E; Lema Fernandez, Anair Graciela AG; Nardelli, Carlotta C; Moretti, Martina M; Gorello, Paolo P; Crescenzi, Barbara B; Romoli, Silvia S; Beacci, Donatella D; Cerrano, Marco M; Fracchiolla, Nicola N; Sica, Simona S; Forghieri, Fabio F; Giglio, Fabio F; Dargenio, Michela M; Elia, Loredana L; La Starza, Roberta R; Mecucci, Cristina C

Publication Date: 2022-11

Variant appearance in text: NOTCH1: 7470C>A; Y2490*

PubMed Link: 35974102

Variant Present in the following documents:

• Main text
• 41375_2022_Article_1671.pdf

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<i>SF3B1</i>-mutated chronic lymphocytic leukemia shows evidence of NOTCH1 pathway activation including CD20 downregulation

Haematologica

Pozzo, Federico F; Bittolo, Tamara T; Tissino, Erika E; Vit, Filippo F; Vendramini, Elena E; Laurenti, Luca L; D'Arena, Giovanni G; Olivieri, Jacopo J; Pozzato, Gabriele G; Zaja, Francesco F; Chiarenza, Annalisa A; Di Raimondo, Francesco F; Zucchetto, Antonella A; Bomben, Riccardo R; Rossi, Francesca Maria FM; Del Poeta, Giovanni G; Dal Bo, Michele M; Gattei, Valter V

Publication Date: 2021-12-01

Variant appearance in text: NOTCH1: Y2490*

PubMed Link: 33121237

Variant Present in the following documents:

• 2020_261891_POZZO_SUPPL.pdf

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Design and MinION testing of a nanopore targeted gene sequencing panel for chronic lymphocytic leukemia.

Scientific Reports

Orsini, Paola P; Minervini, Crescenzio F CF; Cumbo, Cosimo C; Anelli, Luisa L; Zagaria, Antonella A; Minervini, Angela A; Coccaro, Nicoletta N; Tota, Giuseppina G; Casieri, Paola P; Impera, Luciana L; Parciante, Elisa E; Brunetti, Claudia C; Giordano, Annamaria A; Specchia, Giorgina G; Albano, Francesco F

Publication Date: 2018-08-07

Variant appearance in text: NOTCH1: Y2490X

PubMed Link: 30087429

Variant Present in the following documents:

• Main text
• 41598_2018_Article_30330.pdf
• 41598_2018_30330_MOESM4_ESM.xlsx, sheet 1

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Identification of a genetically defined ultra-high-risk group in relapsed pediatric T-lymphoblastic leukemia.

Blood Cancer Journal

Richter-Pechańska, P P; Kunz, J B JB; Hof, J J; Zimmermann, M M; Rausch, T T; Bandapalli, O R OR; Orlova, E E; Scapinello, G G; Sagi, J C JC; Stanulla, M M; Schrappe, M M; Cario, G G; Kirschner-Schwabe, R R; Eckert, C C; Benes, V V; Korbel, J O JO; Muckenthaler, M U MU; Kulozik, A E AE

Publication Date: 2017-02-03

Variant appearance in text: NOTCH1: Y2490X

PubMed Link: 28157215

Variant Present in the following documents:

• bcj20173x11.xlsx, sheet 1

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