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Items: 1 to 20 of 26

1.

Hereditary Predispositions to Myelodysplastic Syndrome.

Bannon SA, DiNardo CD.

Int J Mol Sci. 2016 May 30;17(6). pii: E838. doi: 10.3390/ijms17060838. Review.

2.

Dyskeratosis Congenita.

Savage SA.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2009 Nov 12 [updated 2016 May 26].

3.

The shelterin complex and hematopoiesis.

Jones M, Bisht K, Savage SA, Nandakumar J, Keegan CE, Maillard I.

J Clin Invest. 2016 May 2;126(5):1621-9. doi: 10.1172/JCI84547. Epub 2016 May 2. Review.

4.

Diamond-Blackfan Anemia.

Clinton C, Gazda HT.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2009 Jun 25 [updated 2016 Apr 7].

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.

Predicting Risk at the End of the End: Telomere G-tail as a Biomarker.

Seimiya H.

EBioMedicine. 2015 Jul 4;2(8):804-5. doi: 10.1016/j.ebiom.2015.07.006. eCollection 2015 Aug. Review. No abstract available.

7.

The short and long telomere syndromes: paired paradigms for molecular medicine.

Stanley SE, Armanios M.

Curr Opin Genet Dev. 2015 Aug;33:1-9. doi: 10.1016/j.gde.2015.06.004. Epub 2015 Jul 29. Review.

8.

Missing Cells: Pathophysiology, Diagnosis, and Management of (Pan)Cytopenia in Childhood.

Erlacher M, Strahm B.

Front Pediatr. 2015 Jul 13;3:64. doi: 10.3389/fped.2015.00064. eCollection 2015. Review.

9.

Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder.

Glousker G, Touzot F, Revy P, Tzfati Y, Savage SA.

Br J Haematol. 2015 Aug;170(4):457-71. doi: 10.1111/bjh.13442. Epub 2015 May 4. Review.

10.

The role of telomeres and vitamin D in cellular aging and age-related diseases.

Pusceddu I, Farrell CJ, Di Pierro AM, Jani E, Herrmann W, Herrmann M.

Clin Chem Lab Med. 2015 Oct;53(11):1661-78. doi: 10.1515/cclm-2014-1184. Review.

11.

Genetic predisposition syndromes: when should they be considered in the work-up of MDS?

Babushok DV, Bessler M.

Best Pract Res Clin Haematol. 2015 Mar;28(1):55-68. doi: 10.1016/j.beha.2014.11.004. Epub 2014 Nov 12. Review.

12.

RNA-guided isomerization of uridine to pseudouridine--pseudouridylation.

Yu YT, Meier UT.

RNA Biol. 2014;11(12):1483-94. doi: 10.4161/15476286.2014.972855. Review.

13.

Ribosomopathies: mechanisms of disease.

Nakhoul H, Ke J, Zhou X, Liao W, Zeng SX, Lu H.

Clin Med Insights Blood Disord. 2014 Aug 14;7:7-16. doi: 10.4137/CMBD.S16952. eCollection 2014. Review.

14.

Marrow failure: a window into ribosome biology.

Ruggero D, Shimamura A.

Blood. 2014 Oct 30;124(18):2784-92. doi: 10.1182/blood-2014-04-526301. Epub 2014 Sep 18. Review.

15.

Bone marrow failure and the telomeropathies.

Townsley DM, Dumitriu B, Young NS.

Blood. 2014 Oct 30;124(18):2775-83. doi: 10.1182/blood-2014-05-526285. Epub 2014 Sep 18. Review.

16.

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.

17.

The diagnosis and treatment of dyskeratosis congenita: a review.

Fernández García MS, Teruya-Feldstein J.

J Blood Med. 2014 Aug 21;5:157-67. doi: 10.2147/JBM.S47437. eCollection 2014. Review.

18.

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.

19.

[RTEL1 (regulator of telomere elongation helicase 1), a DNA helicase essential for genome stability].

Le Guen T, Jullien L, Schertzer M, Lefebvre A, Kermasson L, de Villartay JP, Londoño-Vallejo A, Revy P.

Med Sci (Paris). 2013 Dec;29(12):1138-44. doi: 10.1051/medsci/20132912018. Epub 2013 Dec 20. Review. French.

20.

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.

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