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Select item 97935301.

Prenatal diagnosis of distal 13q deletion syndrome in a fetus with esophageal atresia: a case report and review of the literature

Tomomi Kotani, Hiroyuki Tsuda, Yumiko Ito, Noriyuki Nakamura, Takafumi Ushida, Kenji Imai, Yukako Iitani, Kazuya Fuma, Yukako Muramatsu, Masahiro Hayakawa, Hiroaki Kajiyama

J Med Case Rep. 2022; 16: 481. Published online 2022 Dec 27. doi: 10.1186/s13256-022-03713-z

PMCID:: PMC9793530

Abstract Article PDF–1.1M

Select item 93168272.

Retinoblastoma Management in 13q Deletion Syndrome Patients Using Super-Selective Chemotherapies and Other Cancer-Directed Interventions

Lucy V. Cobbs, Jasmine H. Francis, Ira J. Dunkel, Y Pierre Gobin, Scott E. Brodie, David H. Abramson

Pediatr Blood Cancer. Author manuscript; available in PMC 2022 Jul 26.

Published in final edited form as: Pediatr Blood Cancer. 2021 May; 68(5): e28845. Published online 2020 Dec 23. doi: 10.1002/pbc.28845

PMCID:: PMC9316827

Abstract Article PDF–173K

Select item 84714433.

13q Deletion Syndrome Involving RB1: Characterization of a New Minimal Critical Region for Psychomotor Delay

Flavia Privitera, Arianna Calonaci, Gabriella Doddato, Filomena Tiziana Papa, Margherita Baldassarri, Anna Maria Pinto, Francesca Mari, Ilaria Longo, Mauro Caini, Daniela Galimberti, Theodora Hadjistilianou, Sonia De Francesco, Alessandra Renieri, Francesca Ariani

Genes (Basel) 2021 Sep; 12(9): 1318. Published online 2021 Aug 26. doi: 10.3390/genes12091318

PMCID:: PMC8471443

Abstract Article PDF–4.5M

Select item 73798294.

13q deletion syndrome resulting from balanced chromosomal rearrangement in father: the significance of parental karyotyping

Sabine Dittner-Moormann, Madlen Reschke, Eva Biewald, Alma Kuechler, Barbara Klein, Beate Timmermann, Dietmar Lohmann, Petra Ketteler, Deniz Kanber

Mol Cytogenet. 2020; 13: 31. Published online 2020 Jul 23. doi: 10.1186/s13039-020-00500-7

PMCID:: PMC7379829

Abstract Article PDF–948K

Select item 70087715.

Recurrent Sporadic Bilateral Retinoblastoma in a Child with 13q Deletion Syndrome

Laila Tul Qadar, Syed Ali Shazif Baqari, Hira Maab, Sarrah Ali Asghar, Muhammad Saad Hafeez

Cureus. 2020 Jan; 12(1): e6618. Published online 2020 Jan 10. doi: 10.7759/cureus.6618

PMCID:: PMC7008771

Abstract Article PDF–515K

Select item 54362996.

Chromosome 13q deletion syndrome involving 13q31-qter: A case report

Yue-Ping Wang, Da-Jia Wang, Zhi-Bin Niu, Wan-Ting Cui

Mol Med Rep. 2017 Jun; 15(6): 3658–3664. Published online 2017 Apr 3. doi: 10.3892/mmr.2017.6425

PMCID:: PMC5436299

Abstract Article PDF–1.1M

Select item 42285777.

Phenotypical characterization of 13q deletion syndrome: Report of two cases

Eiman Bagherizadeh, Yousef Shafaghati, Fatemeh Hadipour, Farkhondeh Behjati

Indian J Hum Genet. 2014 Apr-Jun; 20(2): 203–205. doi: 10.4103/0971-6866.142912

PMCID:: PMC4228577

Abstract Article PDF–700K

Select item 111961548.

Cytogenetic Alterations and Correlation with Age and Gender in Patients of Multiple Myeloma: A Study from a Tertiary Care Center in Eastern India

Karuna Jha, Sandeep Saha, Maitreyee Bhattacharyya

South Asian J Cancer. 2024 Apr; 13(2): 126–131. Published online 2024 Feb 12. doi: 10.1055/s-0043-1761441

PMCID:: PMC11196154

Abstract Article PDF–268K

Select item 108313309.

Absence of BTK, BCL2, and PLCG2 Mutations in Chronic Lymphocytic Leukemia Relapsing after First-Line Treatment with Fixed-Duration Ibrutinib plus Venetoclax

Nitin Jain, Lisa J. Croner, John N. Allan, Tanya Siddiqi, Alessandra Tedeschi, Xavier C. Badoux, Karl Eckert, Leo W.K. Cheung, Anwesha Mukherjee, James P. Dean, Edith Szafer-Glusman, John F. Seymour

Clin Cancer Res. 2024 Feb 1; 30(3): 498–505. Published online 2023 Nov 13. doi: 10.1158/1078-0432.CCR-22-3934

PMCID:: PMC10831330

Abstract Article PDF–599K

Select item 1077253610.

DIS3 depletion in multiple myeloma causes extensive perturbation in cell cycle progression and centrosome amplification

Vanessa K. Favasuli, Domenica Ronchetti, Ilaria Silvestris, Noemi Puccio, Giuseppina Fabbiano, Valentina Traini, Katia Todoerti, Silvia Erratico, Alessia Ciarrocchi, Valentina Fragliasso, Domenica Giannandrea, Francesca Tumiatti, Raffaella Chiaramonte, Yvan Torrente, Palma Finelli, Eugenio Morelli, Nikhil C. Munshi, Niccolò Bolli, Antonino Neri, Elisa Taiana

Haematologica. 2024 Jan 1; 109(1): 231–244. Published online 2023 Jul 13. doi: 10.3324/haematol.2023.283274

PMCID:: PMC10772536

Abstract Article PDF–2.8M

Select item 1049930111.

From Genes to Ambiguity: A Case Study Exploring the Enigmatic Connection Between Chromosome 13q Deletion Syndrome and Ambiguous Genitalia

McKenna Yost, Terry Johnson, Jacob Kaiser, Connor Yost

Cureus. 2023 Sep; 15(9): e45168. Published online 2023 Sep 13. doi: 10.7759/cureus.45168

PMCID:: PMC10499301

Abstract Article PDF–273K

Select item 1045527312.

Copy Number Variations and Gene Mutations Identified by Multiplex Ligation-Dependent Probe Amplification in Romanian Chronic Lymphocytic Leukemia Patients

Beata Balla, Florin Tripon, Marcela Candea, Claudia Banescu

J Pers Med. 2023 Aug; 13(8): 1239. Published online 2023 Aug 9. doi: 10.3390/jpm13081239

PMCID:: PMC10455273

Abstract Article PDF–621K

Select item 1013405313.

Digital Gangrene and Antiphospholipid Syndrome in a Retinoblastoma Patient with Chromosome 13q Deletion: A Case Report

Nutsuchar Wangtiraumnuay, Supawan Surakrattanaskul, Chonthida Wangkittikul

Case Rep Oncol. 2023 Jan-Dec; 16(1): 293–299. Published online 2023 Apr 27. doi: 10.1159/000530182

PMCID:: PMC10134053

Abstract Article PDF–905K

Select item 1012080114.

Genotoxic colibactin mutational signature in colorectal cancer is associated with clinicopathological features, specific genomic alterations and better survival

Peter Georgeson, Robert S. Steinfelder, Tabitha A. Harrison, Bernard J. Pope, Syed H. Zaidi, Conghui Qu, Yi Lin, Jihoon E. Joo, Khalid Mahmood, Mark Clendenning, Romy Walker, Elom K Aglago, Sonja I. Berndt, Hermann Brenner, Peter T. Campbell, Yin Cao, Andrew T. Chan, Jenny Chang-Claude, Niki Dimou, Kimberly F. Doheny, David A. Drew, Jane C. Figueiredo, Amy J. French, Steven Gallinger, Marios Giannakis, Graham G. Giles, Ellen L Goode, Stephen B Gruber, Andrea Gsur, Marc J. Gunter, Sophia Harlid, Michael Hoffmeister, Li Hsu, Wen-Yi Huang, Jeroen R Huyghe, JoAnn E. Manson, Victor Moreno, Neil Murphy, Rami Nassir, Christina C. Newton, Jonathan A. Nowak, Mireia Obón-Santacana, Shuji Ogino, Rish K. Pai, Nikos Papadimitrou, John D. Potter, Robert E. Schoen, Mingyang Song, Wei Sun, Amanda E. Toland, Quang M. Trinh, Kostas Tsilidis, Tomotaka Ugai, Caroline Y Um, Finlay A. Macrae, Christophe Rosty, Thomas J. Hudson, Ingrid M. Winship, Amanda I. Phipps, Mark A. Jenkins, Ulrike Peters, Daniel D. Buchanan

Version 2. medRxiv. Preprint. 2023 Mar 12 [revised 2024 Jan 30]. doi: 10.1101/2023.03.10.23287127

PMCID:: PMC10120801

Abstract Article PDF–6.8M

Select item 1008099615.

Precision diagnostics in chronic lymphocytic leukemia: Past, present and future

John Mollstedt, Larry Mansouri, Richard Rosenquist

Front Oncol. 2023; 13: 1146486. Published online 2023 Mar 21. doi: 10.3389/fonc.2023.1146486

PMCID:: PMC10080996

Abstract Article PDF–4.0M

Select item 1003890916.

Pathologic, Cytogenetic, and Molecular Features of Acute Myeloid Leukemia with Megakaryocytic Differentiation: a Report from the Children’s Oncology Group

Karen M. Chisholm, Jenny Smith, Amy E. Heerema-McKenney, John K. Choi, Rhonda E. Ries, Betsy A. Hirsch, Susana C. Raimondi, Yi-Cheng Wang, Alice Dang, Todd A. Alonzo, Lillian Sung, Richard Aplenc, Alan S. Gamis, Soheil Meshinchi, Samir B. Kahwash

Pediatr Blood Cancer. Author manuscript; available in PMC 2024 May 1.

Published in final edited form as: Pediatr Blood Cancer. 2023 May; 70(5): e30251. Published online 2023 Feb 15. doi: 10.1002/pbc.30251

PMCID:: PMC10038909

Abstract Article PDF–1.1M

Select item 995958117.

Genetic and Clinical Characteristics of Korean Chronic Lymphocytic Leukemia Patients with High Frequencies of MYD88 Mutations

Ari Ahn, Hoon Seok Kim, Tong-Yoon Kim, Jong-Mi Lee, Dain Kang, Haein Yu, Chae Yeon Lee, Yonggoo Kim, Ki-Seong Eom, Myungshin Kim

Int J Mol Sci. 2023 Feb; 24(4): 3177. Published online 2023 Feb 6. doi: 10.3390/ijms24043177

PMCID:: PMC9959581

Abstract Article PDF–2.5M

Select item 993453418.

MGA deletion leads to Richter’s transformation via modulation of mitochondrial OXPHOS

Prajish Iyer, Bo Zhang, Tingting Liu, Meiling Jin, Kevyn Hart, Jibin Zhang, Joo Song, Wing C. Chan, Tanya Siddiqi, Steven T. Rosen, Alexey Danilov, Lili Wang

Version 1. bioRxiv. Preprint. 2023 Feb 8. doi: 10.1101/2023.02.07.527502

Published in:: Sci Transl Med. 2024 Jul 31; 16(758): eadg7915.

PMCID:: PMC9934534

Abstract Article

Select item 992915719.

T cell receptor gene repertoire profiles in subgroups of patients with chronic lymphocytic leukemia bearing distinct genomic aberrations

Elisavet Vlachonikola, Nikolaos Pechlivanis, Georgios Karakatsoulis, Electra Sofou, Glykeria Gkoliou, Sabine Jeromin, Niki Stavroyianni, Pamela Ranghetti, Lydia Scarfo, Cecilia Österholm, Larry Mansouri, Sofia Notopoulou, Alexandra Siorenta, Achilles Anagnostopoulos, Paolo Ghia, Claudia Haferlach, Richard Rosenquist, Fotis Psomopoulos, Anastasia Kouvatsi, Panagiotis Baliakas, Kostas Stamatopoulos, Anastasia Chatzidimitriou

Front Oncol. 2023; 13: 1097942. Published online 2023 Feb 1. doi: 10.3389/fonc.2023.1097942

PMCID:: PMC9929157

Abstract Article PDF–2.4M

Select item 986677720.

Prognostic Value of the miR-17~92 Cluster in Chronic Lymphocytic Leukemia

Sylwia Chocholska, Michał Zarobkiewicz, Agata Szymańska, Natalia Lehman, Justyna Woś, Agnieszka Bojarska-Junak

Int J Mol Sci. 2023 Jan; 24(2): 1705. Published online 2023 Jan 15. doi: 10.3390/ijms24021705

PMCID:: PMC9866777

Abstract Article PDF–5.1M

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