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Items: 7

1.
PHF6 and DNMT3A mutations are enriched in distinct subgroups of mixed phenotype acute leukemia with T-lineage differentiation
Wenbin Xiao, Maheetha Bharadwaj, Max Levine, Noushin Farnhoud, Friederike Pastore, Bartlomiej M. Getta, Anne Hultquist, Christopher Famulare, Juan S. Medina, Minal A. Patel, Qi Gao, Natasha Lewis, Janine Pichardo, Jeeyeon Baik, Brian Shaffer, Sergio Giralt, Raajit Rampal, Sean Devlin, Robert Cimera, Yanming Zhang, Maria E. Arcila, Elli Papaemmanuil, Ross L. Levine, Mikhail Roshal
Blood Adv. 2018 Dec 11; 2(23): 3526–3539. Published online 2018 Dec 10. doi: 10.1182/bloodadvances.2018023531
Correction in:
Blood Adv. 2019 Apr 9; 3(7): 956.
PMCID:
PMC6290101
AbstractArticlePDF–1.4M
2.
Coexistence of EZH2, NOTCH1, IL7R, and PHF6 Mutations in Adult T-cell Acute Lymphoblastic Leukemia
Xilian Zhou, Yan Gu, Qi Han, Mario Soliman, Chunhua Song, Zheng Ge
Turk J Haematol. 2017 Dec; 34(4): 366–368. Published online 2017 Dec 1. doi: 10.4274/tjh.2017.0194
PMCID:
PMC5774360
ArticlePDF–439K
3.
Pathogenesis of Börjeson-Forssman-Lehmann Syndrome: Insights from PHF6 Function
Arezu Jahani-Asl, Cheng Cheng, Chi Zhang, Azad Bonni
Neurobiol Dis. Author manuscript; available in PMC 2017 Dec 1.
Published in final edited form as: Neurobiol Dis. 2016 Dec; 96: 227–235. Published online 2016 Sep 12. doi: 10.1016/j.nbd.2016.09.011
PMCID:
PMC5102843
AbstractArticlePDF–529K
4.
Novel PHF6 mutation p.D333del causes Börjeson-Forssman-Lehmann syndrome
A Baumstark, K Lower, A Sinkus, I Andriuskeviciute, L Jurkeniene, J Gecz, W Just
J Med Genet. 2003 Apr; 40(4): e50. doi: 10.1136/jmg.40.4.e50
PMCID:
PMC1735415
SummaryPDF–220K
5.
A Novel Nonsense Mutation of PHF6 in a Female with Extended Phenotypes of Borjeson-Forssman-Lehmann Syndrome
Xia Zhang, Yanjie Fan, Xiaomin Liu, Ming-Ang Zhu, Yu Sun, Hui Yan, Yunjuan He, Xiantao Ye, Xuefan Gu, Yongguo Yu
J Clin Res Pediatr Endocrinol. 2019 Dec; 11(4): 419–425. Published online 2019 Nov 22. doi: 10.4274/jcrpe.galenos.2019.2018.0220
PMCID:
PMC6878345
AbstractArticlePDF–532K
6.
Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability
Farah R. Zahir, Jill C. Mwenifumbo, Hye-Jung E. Chun, Emilia L. Lim, Clara D. M. Van Karnebeek, Madeline Couse, Karen L. Mungall, Leora Lee, Nancy Makela, Linlea Armstrong, Cornelius F. Boerkoel, Sylvie L. Langlois, Barbara M. McGillivray, Steven J. M. Jones, Jan M. Friedman, Marco A. Marra
BMC Genomics. 2017; 18: 403. Published online 2017 May 24. doi: 10.1186/s12864-017-3671-0
PMCID:
PMC5442678
AbstractArticlePDF–3.5M
7.
A cooperative microRNA-tumor suppressor gene network in acute T-cell lymphoblastic leukemia (T-ALL)
Konstantinos J Mavrakis, Joni Van Der Meulen, Andrew L Wolfe, Xiaoping Liu, Evelien Mets, Tom Taghon, Aly A Khan, Manu Setty, Pieter Rondou, Peter Vandenberghe, Eric Delabesse, Yves Benoit, Nicholas B Socci, Christina S Leslie, Pieter Van Vlierberghe, Frank Speleman, Hans-Guido Wendel
Nat Genet. Author manuscript; available in PMC 2014 Aug 5.
Published in final edited form as: Nat Genet. 2011 Jul; 43(7): 673–678. Published online 2011 Jun 5. doi: 10.1038/ng.858
Correction in:
volume 43 on page 815
PMCID:
PMC4121855
AbstractArticlePDF–1.4M

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