PMC Articles for MedGen (Select 1711283) - PMC

Select item 58303701.

Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7

Victor B. Pastor, Sushree S. Sahoo, Jessica Boklan, Georg C. Schwabe, Ebru Saribeyoglu, Brigitte Strahm, Dirk Lebrecht, Matthias Voss, Yenan T. Bryceson, Miriam Erlacher, Gerhard Ehninger, Marena Niewisch, Brigitte Schlegelberger, Irith Baumann, John C. Achermann, Akiko Shimamura, Jochen Hochrein, Ulf Tedgård, Lars Nilsson, Henrik Hasle, Melanie Boerries, Hauke Busch, Charlotte M. Niemeyer, Marcin W. Wlodarski

Haematologica. 2018 Mar; 103(3): 427–437. Prepublished online 2017 Dec 7. doi: 10.3324/haematol.2017.180778

PMCID:: PMC5830370

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Select item 57746362.

Familial myelodysplastic syndrome/acute myeloid leukemia

Jane E. Churpek

Best Pract Res Clin Haematol. Author manuscript; available in PMC 2018 Dec 1.

Published in final edited form as: Best Pract Res Clin Haematol. 2017 Dec; 30(4): 287–289. Published online 2017 Oct 4. doi: 10.1016/j.beha.2017.10.002

PMCID:: PMC5774636

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Select item 39615193.

Familial myelodysplastic syndrome/acute leukemia syndromes: a review and utility for translational investigations

Allison H. West, Lucy A. Godley, Jane E. Churpek

Ann N Y Acad Sci. Author manuscript; available in PMC 2015 Mar 1.

Published in final edited form as: Ann N Y Acad Sci. 2014 Mar; 1310(1): 111–118. Published online 2014 Jan 27. doi: 10.1111/nyas.12346

PMCID:: PMC3961519

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Select item 33666554.

Germ-line GATA2 p.THR354MET mutation in familial myelodysplastic syndrome with acquired monosomy 7 and ASXL1 mutation demonstrating rapid onset and poor survival

Csaba Bödör, Aline Renneville, Matthew Smith, Aurélie Charazac, Sameena Iqbal, Pascaline Étancelin, Jamie Cavenagh, Michael J Barnett, Karolina Kramarzová, Biju Krishnan, András Matolcsy, Claude Preudhomme, Jude Fitzgibbon, Carolyn Owen

Haematologica. 2012 Jun; 97(6): 890–894. doi: 10.3324/haematol.2011.054361

PMCID:: PMC3366655

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Select item 31842045.

Heritable GATA2 Mutations Associated with Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia

Christopher N. Hahn, Chan-Eng Chong, Catherine L. Carmichael, Ella J. Wilkins, Peter J. Brautigan, Xiao-Chun Li, Milena Babic, Ming Lin, Amandine Carmagnac, Young K. Lee, Chung H. Kok, Lucia Gagliardi, Kathryn L. Friend, Paul G. Ekert, Carolyn M. Butcher, Anna L. Brown, Ian D. Lewis, L. Bik To, Andrew E. Timms, Jan Storek, Sarah Moore, Meryl Altree, Robert Escher, Peter G. Bardy, Graeme K. Suthers, Richard J. D’Andrea, Marshall S. Horwitz, Hamish S. Scott

Nat Genet. Author manuscript; available in PMC 2012 Apr 1.

Published in final edited form as: Nat Genet. 2011 Oct; 43(10): 1012–1017. Published online 2011 Sep 4. doi: 10.1038/ng.913

PMCID:: PMC3184204

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Select item 53994826.

Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms

Bianca Tesi, Josef Davidsson, Matthias Voss, Elisa Rahikkala, Tim D. Holmes, Samuel C. C. Chiang, Jonna Komulainen-Ebrahim, Sorina Gorcenco, Alexandra Rundberg Nilsson, Tim Ripperger, Hannaleena Kokkonen, David Bryder, Thoas Fioretos, Jan-Inge Henter, Merja Möttönen, Riitta Niinimäki, Lars Nilsson, Cornelis Jan Pronk, Andreas Puschmann, Hong Qian, Johanna Uusimaa, Jukka Moilanen, Ulf Tedgård, Jörg Cammenga, Yenan T. Bryceson

Blood. 2017 Apr 20; 129(16): 2266–2279. Prepublished online 2017 Feb 15. doi: 10.1182/blood-2016-10-743302

PMCID:: PMC5399482

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Select item 42818307.

GATA2 deficiency-associated bone marrow disorder differs from idiopathic aplastic anemia

Karthik A. Ganapathi, Danielle M. Townsley, Amy P. Hsu, Diane C. Arthur, Christa S. Zerbe, Jennifer Cuellar-Rodriguez, Dennis D. Hickstein, Sergio D. Rosenzweig, Raul C. Braylan, Neal S. Young, Steven M. Holland, Katherine R. Calvo

Blood. 2015 Jan 1; 125(1): 56–70. Prepublished online 2014 Oct 30. doi: 10.1182/blood-2014-06-580340

PMCID:: PMC4281830

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Select item 32773598.

Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature

Jan Kazenwadel, Genevieve A. Secker, Yajuan J. Liu, Jill A. Rosenfeld, Robert S. Wildin, Jennifer Cuellar-Rodriguez, Amy P. Hsu, Sarah Dyack, Conrad V. Fernandez, Chan-Eng Chong, Milena Babic, Peter G. Bardy, Akiko Shimamura, Michael Y. Zhang, Tom Walsh, Steven M. Holland, Dennis D. Hickstein, Marshall S. Horwitz, Christopher N. Hahn, Hamish S. Scott, Natasha L. Harvey

Blood. 2012 Feb 2; 119(5): 1283–1291. Prepublished online 2011 Dec 6. doi: 10.1182/blood-2011-08-374363

PMCID:: PMC3277359

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Select item 31863169.

Familial myelodysplastic syndromes: a review of the literature

Elena Liew, Carolyn Owen

Haematologica. 2011 Oct; 96(10): 1536–1542. Published online 2011 May 23. doi: 10.3324/haematol.2011.043422

PMCID:: PMC3186316

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Select item 580997910.

Acute myeloid leukemia in a father and son with a germline mutation of ASXL1

Karen Seiter, Kyaw Htun, Paul Baskind, Zach Liu

Biomark Res. 2018; 6: 7. Published online 2018 Feb 13. doi: 10.1186/s40364-018-0121-3

PMCID:: PMC5809979

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Select item 373490111.

Recognizing familial myeloid leukemia in adults

Eric M. Nickels, Jesse Soodalter, Jane E. Churpek, Lucy A. Godley

Ther Adv Hematol. 2013 Aug; 4(4): 254–269. doi: 10.1177/2040620713487399

PMCID:: PMC3734901

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