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Appendix 3

  1. Uhrhammer N, Fritz E, Meyn MS: Expression of an ATM antisense vector in normal human fibroblasts recreates the ataxia-telangiectasia phenotype. International Journal of Molecular Medicine 4: 43-47 (1999)
  2. Quesnel S, Verselis S, Portwine C, Garber J, White M, Feunteun J, Malkin D, Li FP: p53 compound heterozygosity in a severely affected child with Li-Fraumeni syndrome. Oncogene 1999: 18: pp 3970-3978. [Res] SRI
  3. Hisama FM, Chen Y-H, Meyn MS, Oshima J, Weissman SH: Expression of telomerase or WRN reverses the 4NQO sensitivity of Werner syndrome fibroblasts. Cancer Research 60: 2372-2376 (2000)
  4. Fritz E, Friedl AA, Eckardt-Schupp F, Meyn MS: The yeast TEL1 gene partially substitutes for human ATM in suppressing hyperrecombination, radiation-duced apoptosis and telomere shortening in A-T cells. Molecular Biology of the Cell 11: 2605-2616 (2000)
  5. Fritz E, Friedl AA, Meyn MS, Eckardt-Schupp F: Pleiotrope Funktionen von ATM und homologen Hefeproteinen. Medizinische Genetik 1: 31-33 (2000)
  6. Portwine C, Lees J, Verselis S, Li FP, Malkin D: Role of germline p16 alterations in Li-Fraumeni syndrome patients who lack detectable germline p53. Journal of Medical Genetics 2000: 37: pp e13. [Res] SRI
  7. Portwine C, Lees J, Verselis S, Li FP, Malkin D: Absence of germline p16(INK4a) alterations in p53 wild type Li-Fraumeni syndrome families. Journal of Medical Genetics 2000: 37(8): pp E13. [Res] SRI
  8. Brown LT, Sexsmith E, Malkin D: Identification of a novel PTEN itronic deletion in Li-Fraumeni syndrome and its effect on RNA processing. Cancer Genetics Cytogenetics 2000: 123(1): pp 65-68. [Res] SRI
  9. Malkin D: The role of p53 in human cancer. Journal of Neuro-Oncology 2001: 51(3): pp 231-243. [Res Rev] SRI
  10. Nichols KE, Malkin D, Garber JE, Fraumeni JF Jr, Li FP: Germ-line p53 mutations predispose to a wide spectrum of early-onset cancers. Cancer Epidemology, Biomarkers and Prevention 2001: 10(2): pp 83-87. [Res] CPA
  11. Portwine C, Chilton-MacNeill S, Brown C, Sexsmith E, McLaughlin J, Malkin D: Absence of germline and somatic p53 alterations in children with sporadic brain tumors. Journal of Neuro-Oncology 2001: 52(3): pp 227-235. [Res] SRI
  12. Malkin D, Chilton-MacNeill S, Meister LA, Sexsmith E, Diller L, Garcea RL: Tissue-specific expression of SV40 in tumors associated with the Li-Fraumeni syndrome. Oncogene 2001: 20(33): pp 4441-4449. [Res] SRI
  13. Wyatt-Ashmead J, Kleinschmidt-DeMasters B, Mierau GW, Malkin D, Orsini E, Foreman NK, McGavran L: Choroid plexus carcinomas and rhabdoid tumors: phenotypic and genotypic overlap. Pediatric and Developmental Pathology 2001: 4(6): pp 545-549. [Res] C
  14. Garcia-Higuera I, Taniguchi T, Ganesan S, Meyn MS, Timmers C, Hejna J, Grompe M, D'Andrea AD: Interaction of the Fanconi anemia proteins and BRCA1 in a common pathway. Molecular Cell 7: 249-262 (2001)
  15. Cao JP, Hamm U, Meyn MS, Eckardt-Schupp F, Fritz E: TEL1 from S. cerevisiae suppresses ionizing radiation-induced chromosome aberrations in ataxia-telangiectasia cells without affecting cell cycle checkpoints. Rad.Env.Biophys 40: 309-315 (2001)
  16. Clarkson B, Pavenski K, Dupuis L, Kennedy S. Meyn S, Nezarati MM, Nie G, Weksberg R, Withers S, Quercia N, Teebi AS, Teshima I: Detecting rearrangements in children using subtelomeric FISH and SKY. American Journal of Medical Genetics 107: 267-274 (2002)
  17. Kolomietz E, Meyn MS, Pandita A, Squire JA: The role of Alu repeat clusters as mediators of recurrent chromosomal aberrations in tumors. Genes, Chromo. Cancer 35: 97-112 (2002)
  18. Stavropoulos DJ, Bradshaw PS, Li X. Pasic I, Truong K, Ikura M, Ungrin M and Meyn MS: The Bloom syndrome helicase BLM interacts with TRF2 at telomeres in ALT cells and promotes telomere lengthening. Hum Mol Genet 11:3135-3144 (2002)
  19. Malkin D: Simian virus 40 and non-Hodgkin lymphoma. Lancet 2002: 359(9309): pp 812-813. [Res] SRI
  20. Leonard DGB, Travis LB, Addya K, Dores GM, Holowaty EJ, Bergfeldt K, Malkin D, Kohler BA, Lynch CF, Wiklund T, Stovall M, Hall P, Pukkala E, Slater DJ, Felix CA: p53 mutations in leukemia and myelodysplastic syndrome after ovarian cancer. Clinical Cancer Research 2002: 8: pp 973-985. [Res] C
  21. Ganjavi H, Malkin D: Genetics of childhood cancer. Clinical Orthopaedics and Related Research 2002: 401: pp 75-87. [Res Rev] SRI
  22. Malkin D: p53: an old dog begins to learn new tricks. Drug Discovery Today 2003: 8(13): pp 574-575. [Res Rev] PA
  23. Barrera M, Wayland LA, Mammon D'Agostino N, Gibson J, Weksberg R, Malkin D: Developmental differences in psychological adjustment and health-related quality of life in pediatric cancer patients. Children's Health Care 2003: 32(3): pp 215-231. [Res] SRI
  24. Houghtaling S, Timmers C, Noll M, Finegold M, Jones, SN, Meyn MS, and Grompe M: Fanconi anemia complementation group D2 (Fancd2) knockout mice display microphthalmia and an increased susceptibility to epithelial cancers Genes Dev 17: 2021-2035 (2003)
  25. Wong JCY, Alon N, McKerlie C, Huang JR, Meyn MS, and Buchwald M: Targeted disruption of exons 1 to 6 of the Fanconi Anemia group A gene leads to growth retardation, strain-dependent microphthalmia, meiotic defects and primordial germ cell hypoplasia. Hum Mol Genet 12:2063-2076 (2003)
  26. Barlow JW, Mous M, Wiley JC, Varley JM, Lozano G, Strong LC, Malkin D. Germline BAX alterations are infrequent in Li-Fraumeni syndrome. Cancer Epidem Biomarkers Prevention 2004; 13(8): 1403-1406. [Res] SRI
  27. Malkin D. Predictive genetic testing for childhood cancer: taking the road less traveled by. J Pediat Hematol Oncol 2004; 26 (9): 546-548. [Res Rev] SRI
  28. Barrera M, D’Agostino N, Gibson J, Gilbert T, Weksberg R, Malkin D. Predictors and mediators of psychological adjustment in mothers of children newly diagnosed with cancer. Psycho-oncology 2004; 13: 630-641. [Res] SRI
  29. Valenzuela A, Druker H, Malkin D, Gallie B, Héon E. Unusual ocular presentation of von Hippel-Lindau Disease. Canadian Journal of Ophthalmolgy, 2005; 40, No.5:593-7.
  30. Bradshaw PS, Stavropoulos DJ, Meyn, MS: Human telomeric protein TRF2 associates with genomic double-strand breaks as an early response to DNA damage. Nature Genetics 37: 193-198 (2005).
  31. Young DB, Jonnalagadda J, Gatei M, Jans DA, Meyn MS, Khanna KK: Amino terminal regulation of ATM function. J Biol Chem 280: 27587-95 (2005).
  32. Tanaka H, Mendonca MS, Bradshaw PS, Hoelz DJ, Malkas LH, Meyn MS, Gilley D: DNA damage induced phosphorylation of the human telomere associated protein TRF2. Proc Natl Acad Sci, USA 102: 15539-44 (2005)
  33. Strahm B, Malkin D. Hereditary cancer predisposition in children: molecular basis and clinical implications. International J Cancer 2006: 119: 2001-2006. [Res] SRI
  34. Travis LB, RabkinCS, Brown LM, Allan JM, Alter BP, Ambrosome CB, Begg CB, Caporaso N, Chanock S, DeMichele A, Figg WD, Gospodarowicz MK, Hall EJ, Hisada M, Inskip P, Kleinerman R, Little JB, Malkin D, Ng AK, Offitt K, Pui C-H, Robison LL, Rothman N, Shields PG, Strong L, Taniguchi T, Tucker MA, Greene MH. Cancer survivorship – genetic susceptibility and second primary cancers: research strategies and recommendations. J National Cancer Inst 2006; 98 (1): 15-25. [Res] C
  35. Tabori U, Lees J, Druker H, Nanda S, Malkin D. Telomere shortening and early cancer development in Li-Fraumeni syndrome. Cancer Research 2007 67(4): 1415-1418.[Featured Article]. [Res] SRI
  36. Weksberg, R, Stachon AC, Squire JA, Moldovan L, Bayani J, Meyn MS, Chow E, Bassett AS: Molecular characterization of deletion breakpoints in adults with 22q11 deletion syndrome. Hum Mol Genet 120: 837-45 (2007)
  37. Demuth I, Jost A, Bradshaw PS, Anders M, Heinrich S, Digweed M, Meyn MS, Concannon P. hSM1B/Apollo cooperates with TRF2 and stimulates ATM activation in response to ionizing radiation. DNA Repair (2008)
  38. Tabori U, Malkin D. Risk stratification in cancer predisposition syndromes: Lessons learned from novel molecular developments in Li-Fraumeni syndrome. Cancer Res 68(7): 2053-2057, 2008. [Res] SRI