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3. Mutations in TOP3A Cause a Bloom Syndrome-like Disorder. Martin CA; Sarlós K; Logan CV; Thakur RS; Parry DA; Bizard AH; Leitch A; Cleal L; Ali NS; Al-Owain MA; Allen W; Altmüller J; Aza-Carmona M; Barakat BAY; Barraza-García J; Begtrup A; Bogliolo M; Cho MT; Cruz-Rojo J; Mundi Dhahrabi HA; Elcioglu NH; GOSgene ; Gorman GS; Jobling R; Kesterton I; Kishita Y; Kohda M; Le Quesne Stabej P; Malallah AJ; Nürnberg P; Ohtake A; Okazaki Y; Pujol R; Ramirez MJ; Revah-Politi A; Shimura M; Stevens P; Taylor RW; Turner L; Williams H; Wilson C; Yigit G; Zahavich L; Alkuraya FS; Surralles J; Iglesias A; Murayama K; Wollnik B; Dattani M; Heath KE; Hickson ID; Jackson AP Am J Hum Genet; 2024 May; 111(5):996. PubMed ID: 38701747 [No Abstract] [Full Text] [Related]
4. Developing T lymphocytes are uniquely sensitive to a lack of topoisomerase III alpha. Mönnich M; Hess I; Wiest W; Bachrati C; Hickson ID; Schorpp M; Boehm T Eur J Immunol; 2010 Sep; 40(9):2379-84. PubMed ID: 20623552 [TBL] [Abstract][Full Text] [Related]
5. Clinical features of Bloom syndrome and function of the causative gene, BLM helicase. Kaneko H; Kondo N Expert Rev Mol Diagn; 2004 May; 4(3):393-401. PubMed ID: 15137905 [TBL] [Abstract][Full Text] [Related]
6. The X chromosome: does it have a role in Bloom syndrome, a genomic instability disorder? Aslan D Turk J Pediatr; 2014; 56(3):327-9. PubMed ID: 25341612 [TBL] [Abstract][Full Text] [Related]
7. Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome. Lindor NM; Furuichi Y; Kitao S; Shimamoto A; Arndt C; Jalal S Am J Med Genet; 2000 Jan; 90(3):223-8. PubMed ID: 10678659 [TBL] [Abstract][Full Text] [Related]
8. Sensitivity of Bloom syndrome fibroblasts to mitomycin C. Hook GJ; Kwok E; Heddle JA Mutat Res; 1984; 131(5-6):223-30. PubMed ID: 6429525 [TBL] [Abstract][Full Text] [Related]
9. Bloom syndrome: multiple retinopathies in a chromosome breakage disorder. Bhisitkul RB; Rizen M Br J Ophthalmol; 2004 Mar; 88(3):354-7. PubMed ID: 14977768 [TBL] [Abstract][Full Text] [Related]
10. Lupus-like histopathology in bloom syndrome: reexamining the clinical and histologic implications of photosensitivity. McGowan J; Maize J; Cook J Am J Dermatopathol; 2009 Dec; 31(8):786-91. PubMed ID: 19820394 [TBL] [Abstract][Full Text] [Related]
11. [Clinical and molecular analysis of two Chinese siblings with Bloom syndrome]. Wu ML; Wang XM; Li J; Ding Y; Chen Y; Chang GY; Wang J; Shen YP Zhonghua Er Ke Za Zhi; 2018 May; 56(5):373-376. PubMed ID: 29783825 [No Abstract] [Full Text] [Related]
12. Ashkenazi Jewish population frequency of the Bloom syndrome gene 2281 delta 6ins7 mutation. Roa BB; Savino CV; Richards CS Genet Test; 1999; 3(2):219-21. PubMed ID: 10464671 [TBL] [Abstract][Full Text] [Related]
13. Bloom syndrome does not always present with sun-sensitive facial erythema. Bouman A; van Koningsbruggen S; Karakullukcu MB; Schreuder WH; Lakeman P Eur J Med Genet; 2018 Feb; 61(2):94-97. PubMed ID: 29056561 [TBL] [Abstract][Full Text] [Related]
14. Successful pregnancy in a woman with Bloom syndrome. Chisholm CA; Bray MJ; Karns LB Am J Med Genet; 2001 Aug; 102(2):136-8. PubMed ID: 11477604 [TBL] [Abstract][Full Text] [Related]
15. Cancer predisposition caused by elevated mitotic recombination in Bloom mice. Luo G; Santoro IM; McDaniel LD; Nishijima I; Mills M; Youssoufian H; Vogel H; Schultz RA; Bradley A Nat Genet; 2000 Dec; 26(4):424-9. PubMed ID: 11101838 [TBL] [Abstract][Full Text] [Related]
16. Protein kinase A subunit expression is altered in Bloom syndrome fibroblasts and the BLM protein is increased in adrenocortical hyperplasias: inverse findings for BLM and PRKAR1A. Heyerdahl SL; Boikos S; Horvath A; Giatzakis C; Bossis I; Stratakis CA Horm Metab Res; 2008 Jun; 40(6):391-7. PubMed ID: 18401830 [TBL] [Abstract][Full Text] [Related]
17. Spontaneous and induced chromosomal damage and mutations in Bloom Syndrome mice. Wang Y; Heddle JA Mutat Res; 2004 Oct; 554(1-2):131-7. PubMed ID: 15450411 [TBL] [Abstract][Full Text] [Related]
18. Telomere shortening exposes functions for the mouse Werner and Bloom syndrome genes. Du X; Shen J; Kugan N; Furth EE; Lombard DB; Cheung C; Pak S; Luo G; Pignolo RJ; DePinho RA; Guarente L; Johnson FB Mol Cell Biol; 2004 Oct; 24(19):8437-46. PubMed ID: 15367665 [TBL] [Abstract][Full Text] [Related]
19. Elevated spontaneous mutation rate in Bloom syndrome fibroblasts. Warren ST; Schultz RA; Chang CC; Wade MH; Trosko JE Proc Natl Acad Sci U S A; 1981 May; 78(5):3133-7. PubMed ID: 6942420 [TBL] [Abstract][Full Text] [Related]
20. Expression of BLM (the causative gene for Bloom syndrome) and screening of Bloom syndrome. Morimoto W; Kaneko H; Isogai K; Kasahara K; Kondo N Int J Mol Med; 2002 Jul; 10(1):95-9. PubMed ID: 12060858 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]