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Page 1
Fanconi anaemia: A syndrome with distinct subgroups.
Alter BP, Giri N, McReynolds LJ, Altintas B. Alter BP, et al. Br J Haematol. 2022 May;197(4):467-474. doi: 10.1111/bjh.18091. Epub 2022 Feb 22. Br J Haematol. 2022. PMID: 35191533
Telomere length in inherited bone marrow failure syndromes.
Alter BP, Giri N, Savage SA, Rosenberg PS. Alter BP, et al. Haematologica. 2015 Jan;100(1):49-54. doi: 10.3324/haematol.2014.114389. Epub 2014 Oct 10. Haematologica. 2015. PMID: 25304614 Free PMC article.
Novel FANCI mutations in Fanconi anemia with VACTERL association.
Savage SA, Ballew BJ, Giri N; NCI DCEG Cancer Genomics Research Laboratory; Chandrasekharappa SC, Ameziane N, de Winter J, Alter BP; NCI DCEG Cancer Sequencing Working Group. Savage SA, et al. Am J Med Genet A. 2016 Feb;170A(2):386-391. doi: 10.1002/ajmg.a.37461. Epub 2015 Nov 21. Am J Med Genet A. 2016. PMID: 26590883 Free PMC article.
Genotype-phenotype association and variant characterization in Diamond-Blackfan anemia caused by pathogenic variants in RPL35A.
Gianferante MD, Wlodarski MW, Atsidaftos E, Da Costa L, Delaporta P, Farrar JE, Goldman FD, Hussain M, Kattamis A, Leblanc T, Lipton JM, Niemeyer CM, Pospisilova D, Quarello P, Ramenghi U, Sankaran VG, Vlachos A, Volejnikova J, Alter BP, Savage SA, Giri N. Gianferante MD, et al. Haematologica. 2021 May 1;106(5):1303-1310. doi: 10.3324/haematol.2020.246629. Haematologica. 2021. PMID: 32241839 Free PMC article.
Serum alpha fetoprotein levels in Fanconi anaemia.
Alter BP, Giri N. Alter BP, et al. Br J Haematol. 2019 Mar;184(6):1074-1076. doi: 10.1111/bjh.15517. Epub 2018 Aug 20. Br J Haematol. 2019. PMID: 30125993 Free PMC article. No abstract available.
Expansion of germline RPS20 mutation phenotype to include Diamond-Blackfan anemia.
Bhar S, Zhou F, Reineke LC, Morris DK, Khincha PP, Giri N, Mirabello L, Bergstrom K, Lemon LD, Williams CL, Toh Y, Elghetany MT, Lloyd RE, Alter BP, Savage SA, Bertuch AA. Bhar S, et al. Hum Mutat. 2020 Nov;41(11):1918-1930. doi: 10.1002/humu.24092. Epub 2020 Aug 30. Hum Mutat. 2020. PMID: 32790018 Free PMC article.
11 results