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Results: 1 to 20 of 33

1.

Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families.

Mirabello L, Macari ER, Jessop L, Ellis SR, Myers T, Giri N, Taylor AM, McGrath KE, Humphries JM, Ballew BJ, Yeager M, Boland JF, He J, Hicks BD, Burdett L, Alter BP, Zon L, Savage SA.

Blood. 2014 Jul 3;124(1):24-32. doi: 10.1182/blood-2013-11-540278. Epub 2014 May 14.

PMID:
24829207
[PubMed - in process]
2.

Response to androgen therapy in patients with dyskeratosis congenita.

Khincha PP, Wentzensen IM, Giri N, Alter BP, Savage SA.

Br J Haematol. 2014 May;165(3):349-57. doi: 10.1111/bjh.12748. Epub 2014 Feb 12.

PMID:
24666134
[PubMed - indexed for MEDLINE]
3.

Anti-Müllerian hormone deficiency in females with Fanconi anemia.

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

J Clin Endocrinol Metab. 2014 May;99(5):1608-14. doi: 10.1210/jc.2013-3559. Epub 2014 Jan 17.

PMID:
24438373
[PubMed - indexed for MEDLINE]
4.

Antibody response to human papillomavirus vaccine in subjects with inherited bone marrow failure syndromes.

Alter BP, Giri N, Pan Y, Savage SA, Pinto LA.

Vaccine. 2014 Feb 26;32(10):1169-73. doi: 10.1016/j.vaccine.2013.11.048. Epub 2013 Dec 2.

PMID:
24295807
[PubMed - in process]
5.

GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity.

Spinner MA, Sanchez LA, Hsu AP, Shaw PA, Zerbe CS, Calvo KR, Arthur DC, Gu W, Gould CM, Brewer CC, Cowen EW, Freeman AF, Olivier KN, Uzel G, Zelazny AM, Daub JR, Spalding CD, Claypool RJ, Giri NK, Alter BP, Mace EM, Orange JS, Cuellar-Rodriguez J, Hickstein DD, Holland SM.

Blood. 2014 Feb 6;123(6):809-21. doi: 10.1182/blood-2013-07-515528. Epub 2013 Nov 13.

PMID:
24227816
[PubMed - indexed for MEDLINE]
6.

A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome.

Ballew BJ, Joseph V, De S, Sarek G, Vannier JB, Stracker T, Schrader KA, Small TN, O'Reilly R, Manschreck C, Harlan Fleischut MM, Zhang L, Sullivan J, Stratton K, Yeager M, Jacobs K, Giri N, Alter BP, Boland J, Burdett L, Offit K, Boulton SJ, Savage SA, Petrini JH.

PLoS Genet. 2013 Aug;9(8):e1003695. doi: 10.1371/journal.pgen.1003695. Epub 2013 Aug 29.

PMID:
24009516
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Cytokine production by bone marrow mononuclear cells in inherited bone marrow failure syndromes.

Matsui K, Giri N, Alter BP, Pinto LA.

Br J Haematol. 2013 Oct;163(1):81-92. doi: 10.1111/bjh.12475. Epub 2013 Jul 25.

PMID:
23889587
[PubMed - indexed for MEDLINE]
8.

Outcomes of allogeneic hematopoietic cell transplantation in patients with dyskeratosis congenita.

Gadalla SM, Sales-Bonfim C, Carreras J, Alter BP, Antin JH, Ayas M, Bodhi P, Davis J, Davies SM, Deconinck E, Deeg HJ, Duerst RE, Fasth A, Ghavamzadeh A, Giri N, Goldman FD, Kolb EA, Krance R, Kurtzberg J, Leung WH, Srivastava A, Or R, Richman CM, Rosenberg PS, Toledo Codina JS, Shenoy S, Socié G, Tolar J, Williams KM, Eapen M, Savage SA.

Biol Blood Marrow Transplant. 2013 Aug;19(8):1238-43. doi: 10.1016/j.bbmt.2013.05.021. Epub 2013 Jun 8.

PMID:
23751955
[PubMed - indexed for MEDLINE]
9.

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.

PMID:
23713742
[PubMed - indexed for MEDLINE]
10.

Squamous cell carcinomas in patients with Fanconi anemia and dyskeratosis congenita: a search for human papillomavirus.

Alter BP, Giri N, Savage SA, Quint WG, de Koning MN, Schiffman M.

Int J Cancer. 2013 Sep 15;133(6):1513-5. doi: 10.1002/ijc.28157. Epub 2013 Apr 5.

PMID:
23558727
[PubMed - indexed for MEDLINE]
11.

Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita.

Ballew BJ, Yeager M, Jacobs K, Giri N, Boland J, Burdett L, Alter BP, Savage SA.

Hum Genet. 2013 Apr;132(4):473-80. doi: 10.1007/s00439-013-1265-8. Epub 2013 Jan 18.

PMID:
23329068
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia.

Fargo JH, Kratz CP, Giri N, Savage SA, Wong C, Backer K, Alter BP, Glader B.

Br J Haematol. 2013 Feb;160(4):547-54. doi: 10.1111/bjh.12167. Epub 2012 Dec 17.

PMID:
23252420
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Neuropsychiatric conditions among patients with dyskeratosis congenita: a link with telomere biology?

Rackley S, Pao M, Seratti GF, Giri N, Rasimas JJ, Alter BP, Savage SA.

Psychosomatics. 2012 May-Jun;53(3):230-5. doi: 10.1016/j.psym.2011.09.003. Epub 2012 Mar 27.

PMID:
22458992
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

The accumulation and not the specific activity of telomerase ribonucleoprotein determines telomere maintenance deficiency in X-linked dyskeratosis congenita.

Zeng XL, Thumati NR, Fleisig HB, Hukezalie KR, Savage SA, Giri N, Alter BP, Wong JM.

Hum Mol Genet. 2012 Feb 15;21(4):721-9. doi: 10.1093/hmg/ddr504. Epub 2011 Nov 4.

PMID:
22058290
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Telomere length is associated with disease severity and declines with age in dyskeratosis congenita.

Alter BP, Rosenberg PS, Giri N, Baerlocher GM, Lansdorp PM, Savage SA.

Haematologica. 2012 Mar;97(3):353-9. doi: 10.3324/haematol.2011.055269. Epub 2011 Nov 4.

PMID:
22058220
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

The relationship between DNA methylation and telomere length in dyskeratosis congenita.

Gadalla SM, Katki HA, Shebl FM, Giri N, Alter BP, Savage SA.

Aging Cell. 2012 Feb;11(1):24-8. doi: 10.1111/j.1474-9726.2011.00755.x. Epub 2011 Nov 15.

PMID:
21981348
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Lung transplantation for pulmonary fibrosis in dyskeratosis congenita: Case Report and systematic literature review.

Giri N, Lee R, Faro A, Huddleston CB, White FV, Alter BP, Savage SA.

BMC Blood Disord. 2011 Jun 15;11:3. doi: 10.1186/1471-2326-11-3.

PMID:
21676225
[PubMed]
Free PMC Article
18.

Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells.

Batista LF, Pech MF, Zhong FL, Nguyen HN, Xie KT, Zaug AJ, Crary SM, Choi J, Sebastiano V, Cherry A, Giri N, Wernig M, Alter BP, Cech TR, Savage SA, Reijo Pera RA, Artandi SE.

Nature. 2011 May 22;474(7351):399-402. doi: 10.1038/nature10084.

PMID:
21602826
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Sequence analysis of the shelterin telomere protection complex genes in dyskeratosis congenita.

Savage SA, Giri N, Jessop L, Pike K, Plona T, Burdett L, Alter BP.

J Med Genet. 2011 Apr;48(4):285-8. doi: 10.1136/jmg.2010.082727. Epub 2011 Jan 5.

PMID:
21209122
[PubMed - indexed for MEDLINE]
20.

Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita.

Zhong F, Savage SA, Shkreli M, Giri N, Jessop L, Myers T, Chen R, Alter BP, Artandi SE.

Genes Dev. 2011 Jan 1;25(1):11-6. doi: 10.1101/gad.2006411.

PMID:
21205863
[PubMed - indexed for MEDLINE]
Free PMC Article

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