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Items: 1 to 20 of 32

1.

Flow cytometry and FISH to measure the average length of telomeres (flow FISH).

Baerlocher GM, Vulto I, de Jong G, Lansdorp PM.

Nat Protoc. 2006;1(5):2365-76.

PMID:
17406480
2.

Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure.

Savage SA, Stewart BJ, Weksler BB, Baerlocher GM, Lansdorp PM, Chanock SJ, Alter BP.

Blood Cells Mol Dis. 2006 Sep-Oct;37(2):134-6. Epub 2006 Aug 23. No abstract available.

PMID:
16934504
3.

Intensive immunosuppression therapy for aplastic anemia associated with dyskeratosis congenita.

Al-Rahawan MM, Giri N, Alter BP.

Int J Hematol. 2006 Apr;83(3):275-6. No abstract available.

PMID:
16720563
4.

Natural gene therapy in monozygotic twins with Fanconi anemia.

Mankad A, Taniguchi T, Cox B, Akkari Y, Rathbun RK, Lucas L, Bagby G, Olson S, D'Andrea A, Grompe M.

Blood. 2006 Apr 15;107(8):3084-90. Epub 2006 Jan 5.

5.

Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation.

Vulliamy TJ, Marrone A, Knight SW, Walne A, Mason PJ, Dokal I.

Blood. 2006 Apr 1;107(7):2680-5. Epub 2005 Dec 6.

6.

Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita.

Armanios M, Chen JL, Chang YP, Brodsky RA, Hawkins A, Griffin CA, Eshleman JR, Cohen AR, Chakravarti A, Hamosh A, Greider CW.

Proc Natl Acad Sci U S A. 2005 Nov 1;102(44):15960-4. Epub 2005 Oct 24.

7.

Fanconi anemia: adult head and neck cancer and hematopoietic mosaicism.

Alter BP, Joenje H, Oostra AB, Pals G.

Arch Otolaryngol Head Neck Surg. 2005 Jul;131(7):635-9. No abstract available.

PMID:
16027289
8.

Major cutbacks at chromosome ends.

Lansdorp PM.

Trends Biochem Sci. 2005 Jul;30(7):388-95. Review.

PMID:
15936947
9.

Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia.

Yamaguchi H, Calado RT, Ly H, Kajigaya S, Baerlocher GM, Chanock SJ, Lansdorp PM, Young NS.

N Engl J Med. 2005 Apr 7;352(14):1413-24.

10.

Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC.

Vulliamy T, Marrone A, Szydlo R, Walne A, Mason PJ, Dokal I.

Nat Genet. 2004 May;36(5):447-9. Epub 2004 Apr 18.

PMID:
15098033
11.

Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA.

Fogarty PF, Yamaguchi H, Wiestner A, Baerlocher GM, Sloand E, Zeng WS, Read EJ, Lansdorp PM, Young NS.

Lancet. 2003 Nov 15;362(9396):1628-30.

PMID:
14630445
12.

Severe telomere shortening in patients with paroxysmal nocturnal hemoglobinuria affects both GPI- and GPI+ hematopoiesis.

Karadimitris A, Araten DJ, Luzzatto L, Notaro R.

Blood. 2003 Jul 15;102(2):514-6. Epub 2003 Mar 6.

13.

Mutations in SBDS are associated with Shwachman-Diamond syndrome.

Boocock GR, Morrison JA, Popovic M, Richards N, Ellis L, Durie PR, Rommens JM.

Nat Genet. 2003 Jan;33(1):97-101. Epub 2002 Dec 23.

PMID:
12496757
14.

Telomeres in T and B cells.

Hodes RJ, Hathcock KS, Weng NP.

Nat Rev Immunol. 2002 Sep;2(9):699-706. Review.

PMID:
12209138
15.

Shwachman-Diamond syndrome: report from an international conference.

Rothbaum R, Perrault J, Vlachos A, Cipolli M, Alter BP, Burroughs S, Durie P, Elghetany MT, Grand R, Hubbard V, Rommens J, Rossi T.

J Pediatr. 2002 Aug;141(2):266-70. Review. No abstract available.

PMID:
12183725
16.

Abnormal telomere shortening in leucocytes of children with Shwachman-Diamond syndrome.

Thornley I, Dror Y, Sung L, Wynn RF, Freedman MH.

Br J Haematol. 2002 Apr;117(1):189-92.

PMID:
11918553
17.

Telomerase in the human organism.

Collins K, Mitchell JR.

Oncogene. 2002 Jan 21;21(4):564-79. Review.

18.

The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita.

Vulliamy T, Marrone A, Goldman F, Dearlove A, Bessler M, Mason PJ, Dokal I.

Nature. 2001 Sep 27;413(6854):432-5.

PMID:
11574891
19.

Telomere length changes in patients with aplastic anaemia.

Lee JJ, Kook H, Chung IJ, Na JA, Park MR, Hwang TJ, Kwak JY, Sohn SK, Kim HJ.

Br J Haematol. 2001 Mar;112(4):1025-30.

PMID:
11298602
20.

Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p disease.

Gazda H, Lipton JM, Willig TN, Ball S, Niemeyer CM, Tchernia G, Mohandas N, Daly MJ, Ploszynska A, Orfali KA, Vlachos A, Glader BE, Rokicka-Milewska R, Ohara A, Baker D, Pospisilova D, Webber A, Viskochil DH, Nathan DG, Beggs AH, Sieff CA.

Blood. 2001 Apr 1;97(7):2145-50.

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