Savage SA - Search Results

1

Identification of biallelic POLA2 variants in two families with an autosomal recessive telomere biology disorder.

Kvarnung M, Pettersson M, Chun-On P, Rafati M, McReynolds LJ, Norberg A, Moura PL, Pesonen I, Chaireti R, Grönros Söderholm B, Burlin J, Rydén J, Lindberg EH, Giri N, Savage SA, Agarwal S, Nordgren A, Tesi B. Kvarnung M, et al. Among authors: savage sa. Eur J Hum Genet. 2024 Nov 30. doi: 10.1038/s41431-024-01722-8. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39616267

2

Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita.

Alter BP, Baerlocher GM, Savage SA, Chanock SJ, Weksler BB, Willner JP, Peters JA, Giri N, Lansdorp PM. Alter BP, et al. Among authors: savage sa. Blood. 2007 Sep 1;110(5):1439-47. doi: 10.1182/blood-2007-02-075598. Epub 2007 Apr 27. Blood. 2007. PMID: 17468339 Free PMC article. Clinical Trial.

3

TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita.

Savage SA, Giri N, Baerlocher GM, Orr N, Lansdorp PM, Alter BP. Savage SA, et al. Am J Hum Genet. 2008 Feb;82(2):501-9. doi: 10.1016/j.ajhg.2007.10.004. Epub 2008 Jan 31. Am J Hum Genet. 2008. PMID: 18252230 Free PMC article.

4

Cancer in dyskeratosis congenita.

Alter BP, Giri N, Savage SA, Rosenberg PS. Alter BP, et al. Among authors: savage sa. Blood. 2009 Jun 25;113(26):6549-57. doi: 10.1182/blood-2008-12-192880. Epub 2009 Mar 12. Blood. 2009. PMID: 19282459 Free PMC article. Review.

5

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. Alter BP, et al. Among authors: savage sa. Br J Haematol. 2010 Jul;150(2):179-88. doi: 10.1111/j.1365-2141.2010.08212.x. Epub 2010 Apr 30. Br J Haematol. 2010. PMID: 20507306 Free PMC article.

6

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. Gadalla SM, et al. Among authors: savage sa. Aging (Albany NY). 2010 Nov;2(11):867-74. doi: 10.18632/aging.100235. Aging (Albany NY). 2010. PMID: 21113082 Free PMC article.

7

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. Savage SA, et al. J Med Genet. 2011 Apr;48(4):285-8. doi: 10.1136/jmg.2010.082727. Epub 2011 Jan 5. J Med Genet. 2011. PMID: 21209122

8

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. Giri N, et al. Among authors: savage sa. BMC Blood Disord. 2011 Jun 15;11:3. doi: 10.1186/1471-2326-11-3. BMC Blood Disord. 2011. PMID: 21676225 Free PMC article.

9

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

Gadalla SM, Katki HA, Shebl FM, Giri N, Alter BP, Savage SA. Gadalla SM, et al. Among authors: savage sa. Aging Cell. 2012 Feb;11(1):24-8. doi: 10.1111/j.1474-9726.2011.00755.x. Epub 2011 Nov 15. Aging Cell. 2012. PMID: 21981348 Free PMC article.

10

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. Alter BP, et al. Among authors: savage sa. Haematologica. 2012 Mar;97(3):353-9. doi: 10.3324/haematol.2011.055269. Epub 2011 Nov 4. Haematologica. 2012. PMID: 22058220 Free PMC article. Clinical Trial.

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