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Items: 1 to 20 of 111

1.

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.

2.

The genomics of inherited bone marrow failure: from mechanism to the clinic.

Wegman-Ostrosky T, Savage SA.

Br J Haematol. 2017 May;177(4):526-542. doi: 10.1111/bjh.14535. Epub 2017 Feb 17. Review.

PMID:
28211564
3.

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
4.

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.

5.

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.

6.

Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype-phenotype correlation.

Hashmi SK, Allen C, Klaassen R, Fernandez CV, Yanofsky R, Shereck E, Champagne J, Silva M, Lipton JH, Brossard J, Samson Y, Abish S, Steele M, Ali K, Dower N, Athale U, Jardine L, Hand JP, Beyene J, Dror Y.

Clin Genet. 2011 May;79(5):448-58. doi: 10.1111/j.1399-0004.2010.01468.x.

PMID:
20569259
7.

Neonatal manifestations of inherited bone marrow failure syndromes.

Khincha PP, Savage SA.

Semin Fetal Neonatal Med. 2016 Feb;21(1):57-65. doi: 10.1016/j.siny.2015.12.003. Epub 2015 Dec 24. Review.

8.

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.

9.

[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
10.

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 Dec;63(12):2139-2145. doi: 10.1002/pbc.26155. Epub 2016 Jul 18.

PMID:
27428025
11.

Comparison of chromosome breakage in non-mosaic and mosaic patients with Fanconi anemia, relatives, and patients with other inherited bone marrow failure syndromes.

Fargo JH, Rochowski A, Giri N, Savage SA, Olson SB, Alter BP.

Cytogenet Genome Res. 2014;144(1):15-27. doi: 10.1159/000366251. Epub 2014 Sep 11.

12.

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.

13.

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. Japanese.

PMID:
27498735
14.

Detection of paroxysmal nocturnal hemoglobinuria clones to exclude inherited bone marrow failure syndromes.

DeZern AE, Symons HJ, Resar LS, Borowitz MJ, Armanios MY, Brodsky RA.

Eur J Haematol. 2014 Jun;92(6):467-70. doi: 10.1111/ejh.12299. Epub 2014 Mar 18.

15.

Bone marrow cell cycle markers in inherited bone marrow failure syndromes.

Al-Rahawan MM, Alter BP, Bryant BJ, Elghetany MT.

Leuk Res. 2008 Dec;32(12):1793-9. doi: 10.1016/j.leukres.2008.05.020. Epub 2008 Jul 7.

16.

Breast cancer in a case of Shwachman Diamond syndrome.

Singh SA, Vlachos A, Morgenstern NJ, Ouansafi I, Ip W, Rommens JM, Durie P, Shimamura A, Lipton JM.

Pediatr Blood Cancer. 2012 Nov;59(5):945-6. doi: 10.1002/pbc.24052. Epub 2011 Dec 27.

PMID:
22213587
17.

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
18.

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.

19.

Immune status of patients with inherited bone marrow failure syndromes.

Giri N, Alter BP, Penrose K, Falk RT, Pan Y, Savage SA, Williams M, Kemp TJ, Pinto LA.

Am J Hematol. 2015 Aug;90(8):702-8. doi: 10.1002/ajh.24046. Epub 2015 May 28.

20.

Allogeneic hematopoietic stem cell transplantation for inherited bone marrow failure syndromes.

Dalle JH, Peffault de Latour R.

Int J Hematol. 2016 Apr;103(4):373-9. doi: 10.1007/s12185-016-1951-0. Epub 2016 Feb 12. Review.

PMID:
26872907

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