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Items: 1 to 20 of 111

1.

Genomic characterization of the inherited bone marrow failure syndromes.

Khincha PP, Savage SA.

Semin Hematol. 2013 Oct;50(4):333-47. doi: 10.1053/j.seminhematol.2013.09.002. Review.

2.

Inherited bone marrow failure syndromes in adolescents and young adults.

Wilson DB, Link DC, Mason PJ, Bessler M.

Ann Med. 2014 Sep;46(6):353-63. doi: 10.3109/07853890.2014.915579. Epub 2014 Jun 3. Review.

3.

Telomere length in inherited bone marrow failure syndromes.

Alter BP, Giri N, Savage SA, Rosenberg PS.

Haematologica. 2015 Jan;100(1):49-54. doi: 10.3324/haematol.2014.114389. Epub 2014 Oct 10.

4.

Inherited bone marrow failure syndromes in 2012.

Sakaguchi H, Nakanishi K, Kojima S.

Int J Hematol. 2013 Jan;97(1):20-9. doi: 10.1007/s12185-012-1249-9. Epub 2012 Dec 28. Review.

PMID:
23271412
5.

[Molecular diagnosis and hematopoietic stem cell transplantation in 17 children with inherited bone marrow failure syndrome].

Li Q, Li B, Luo C, Wang J, Luo C, Ding L, Chen J.

Zhonghua Er Ke Za Zhi. 2015 Nov;53(11):817-23. Chinese.

PMID:
26758319
6.

Recent advances in inherited bone marrow failure syndrome research.

Ito E, Toki T, Terui K.

Rinsho Ketsueki. 2016 Jul;57(7):882-90. doi: 10.11406/rinketsu.57.882.

PMID:
27498735
7.

Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study.

Alter BP, Giri N, Savage SA, Peters JA, Loud JT, Leathwood L, Carr AG, Greene MH, Rosenberg PS.

Br J Haematol. 2010 Jul;150(2):179-88. doi: 10.1111/j.1365-2141.2010.08212.x. Epub 2010 Apr 30.

8.

Ocular and orbital manifestations of the inherited bone marrow failure syndromes: Fanconi anemia and dyskeratosis congenita.

Tsilou ET, Giri N, Weinstein S, Mueller C, Savage SA, Alter BP.

Ophthalmology. 2010 Mar;117(3):615-22. doi: 10.1016/j.ophtha.2009.08.023. Epub 2009 Dec 22.

9.

Inherited bone marrow failure syndromes: molecular features.

Shimamura A.

Hematology Am Soc Hematol Educ Program. 2006:63-71. Review.

PMID:
17124042
10.

Current insights into inherited bone marrow failure syndromes.

Chung NG, Kim M.

Korean J Pediatr. 2014 Aug;57(8):337-44. doi: 10.3345/kjp.2014.57.8.337. Epub 2014 Aug 25. Review.

11.

Genetic regulation of fetal haemoglobin in inherited bone marrow failure syndromes.

Alter BP, Rosenberg PS, Day T, Menzel S, Giri N, Savage SA, Thein SL.

Br J Haematol. 2013 Aug;162(4):542-6. doi: 10.1111/bjh.12399. Epub 2013 May 29.

12.

[Inherited bone marrow failure syndromes].

Okuno Y.

Rinsho Ketsueki. 2016 Feb;57(2):98-103. doi: 10.11406/rinketsu.57.98. Review. Japanese.

PMID:
26935625
13.

Fanconi's anaemia and related bone marrow failure syndromes.

Dokal I.

Br Med Bull. 2006;77-78:37-53. Epub 2006 Sep 11. Review.

PMID:
16968690
14.

Reduced serum levels of anti-Müllerian hormone in females with inherited bone marrow failure syndromes.

Sklavos MM, Stratton P, Giri N, Alter BP, Savage SA, Pinto LA.

J Clin Endocrinol Metab. 2015 Feb;100(2):E197-203. doi: 10.1210/jc.2014-2838. Epub 2014 Nov 18.

15.

Genetic Information-Seeking Behaviors and Knowledge among Family Members and Patients with Inherited Bone Marrow Failure Syndromes.

Hamilton JG, Hutson SP, Frohnmayer AE, Han PK, Peters JA, Carr AG, Alter BP.

J Genet Couns. 2015 Oct;24(5):760-70. doi: 10.1007/s10897-014-9807-3. Epub 2014 Dec 27.

PMID:
25540896
16.

The inherited bone marrow failure syndromes.

Chirnomas SD, Kupfer GM.

Pediatr Clin North Am. 2013 Dec;60(6):1291-310. doi: 10.1016/j.pcl.2013.09.007. Review.

17.

Recent insights into inherited bone marrow failure syndromes.

Parikh S, Bessler M.

Curr Opin Pediatr. 2012 Feb;24(1):23-32. doi: 10.1097/MOP.0b013e32834eca77. Review.

18.

Inherited aplastic anaemias/bone marrow failure syndromes.

Dokal I, Vulliamy T.

Blood Rev. 2008 May;22(3):141-53. doi: 10.1016/j.blre.2007.11.003. Epub 2007 Dec 31. Review.

PMID:
18164793
19.

Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations.

Tsangaris E, Klaassen R, Fernandez CV, Yanofsky R, Shereck E, Champagne J, Silva M, Lipton JH, Brossard J, Michon B, Abish S, Steele M, Ali K, Dower N, Athale U, Jardine L, Hand JP, Odame I, Canning P, Allen C, Carcao M, Beyene J, Roifman CM, Dror Y.

J Med Genet. 2011 Sep;48(9):618-28. doi: 10.1136/jmg.2011.089821. Epub 2011 Jun 9. Erratum in: J Med Genet. 2012 Sep;49(9):597.

PMID:
21659346
20.

Otologic manifestations of Fanconi anemia and other inherited bone marrow failure syndromes.

Kalejaiye A, Giri N, Brewer CC, Zalewski CK, King KA, Adams CD, Rosenberg PS, Kim HJ, Alter BP.

Pediatr Blood Cancer. 2016 Jul 18. doi: 10.1002/pbc.26155. [Epub ahead of print]

PMID:
27428025
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