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Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1.
Kocak H, Ballew BJ, Bisht K, Eggebeen R, Hicks BD, Suman S, O'Neil A, Giri N; NCI DCEG Cancer Genomics Research Laboratory; NCI DCEG Cancer Sequencing Working Group; Maillard I, Alter BP, Keegan CE, Nandakumar J, Savage SA. Kocak H, et al. Among authors: alter bp. Genes Dev. 2014 Oct 1;28(19):2090-102. doi: 10.1101/gad.248567.114. Epub 2014 Sep 18. Genes Dev. 2014. PMID: 25233904 Free PMC article.
Cancer incidence in persons with Fanconi anemia.
Rosenberg PS, Greene MH, Alter BP. Rosenberg PS, et al. Among authors: alter bp. Blood. 2003 Feb 1;101(3):822-6. doi: 10.1182/blood-2002-05-1498. Epub 2002 Sep 5. Blood. 2003. PMID: 12393424 Free article.
Cancer survivorship--genetic susceptibility and second primary cancers: research strategies and recommendations.
Travis LB, Rabkin CS, Brown LM, Allan JM, Alter BP, Ambrosone 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, Offit K, Pui CH, Robison LL, Rothman N, Shields PG, Strong L, Taniguchi T, Tucker MA, Greene MH. Travis LB, et al. Among authors: alter bp. J Natl Cancer Inst. 2006 Jan 4;98(1):15-25. doi: 10.1093/jnci/djj001. J Natl Cancer Inst. 2006. PMID: 16391368 Review.
Endocrine abnormalities in patients with Fanconi anemia.
Giri N, Batista DL, Alter BP, Stratakis CA. Giri N, et al. Among authors: alter bp. J Clin Endocrinol Metab. 2007 Jul;92(7):2624-31. doi: 10.1210/jc.2007-0135. Epub 2007 Apr 10. J Clin Endocrinol Metab. 2007. PMID: 17426088
310 results