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Items: 1 to 20 of 94

1.

Neutrophil functions in patients with inherited bone marrow failure syndromes.

Rochowski A, Sun C, Glogauer M, Alter BP.

Pediatr Blood Cancer. 2011 Aug;57(2):306-9. doi: 10.1002/pbc.22885. Epub 2010 Nov 5.

2.

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.

3.

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.

4.

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
5.

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.

6.

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.

7.

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.

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.

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.

10.

Inherited bone marrow failure syndromes: molecular features.

Shimamura A.

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

PMID:
17124042
11.

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.

12.

Frequency and natural history of inherited bone marrow failure syndromes: the Israeli Inherited Bone Marrow Failure Registry.

Tamary H, Nishri D, Yacobovich J, Zilber R, Dgany O, Krasnov T, Aviner S, Stepensky P, Ravel-Vilk S, Bitan M, Kaplinsky C, Ben Barak A, Elhasid R, Kapelusnik J, Koren A, Levin C, Attias D, Laor R, Yaniv I, Rosenberg PS, Alter BP.

Haematologica. 2010 Aug;95(8):1300-7. doi: 10.3324/haematol.2009.018119. Epub 2010 Apr 30.

13.

Signalling defect in FMLP-induced neutrophil respiratory burst in myelodysplastic syndromes.

Nakaseko C, Asai T, Wakita H, Oh H, Saito Y.

Br J Haematol. 1996 Dec;95(3):482-8.

PMID:
8943888
14.

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
15.

Telomere length in blood, buccal cells, and fibroblasts from patients with inherited bone marrow failure syndromes.

Gadalla SM, Cawthon R, Giri N, Alter BP, Savage SA.

Aging (Albany NY). 2010 Nov;2(11):867-74.

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.

[Diagnosis and management of inherited bone marrow failure syndrome].

Yabe M, Yabe H.

Rinsho Ketsueki. 2015 Oct;56(10):1914-21. doi: 10.11406/rinketsu.56.1914. Japanese.

PMID:
26458429
18.

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
19.

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.

20.

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

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