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Identification of biallelic POLA2 variants in two families with an autosomal recessive telomere biology disorder.
Kvarnung M, Pettersson M, Chun-On P, Rafati M, McReynolds LJ, Norberg A, Moura PL, Pesonen I, Chaireti R, Grönros Söderholm B, Burlin J, Rydén J, Lindberg EH, Giri N, Savage SA, Agarwal S, Nordgren A, Tesi B. Kvarnung M, et al. Among authors: mcreynolds lj. Eur J Hum Genet. 2024 Nov 30. doi: 10.1038/s41431-024-01722-8. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39616267
Dyskeratosis congenita with a novel genetic variant in the DKC1 gene: a case report.
Ratnasamy V, Navaneethakrishnan S, Sirisena ND, Grüning NM, Brandau O, Thirunavukarasu K, Dagnall CL, McReynolds LJ, Savage SA, Dissanayake VHW. Ratnasamy V, et al. Among authors: mcreynolds lj. BMC Med Genet. 2018 May 25;19(1):85. doi: 10.1186/s12881-018-0584-y. BMC Med Genet. 2018. PMID: 29801475 Free PMC article.
Understanding the evolving phenotype of vascular complications in telomere biology disorders.
Higgs C, Crow YJ, Adams DM, Chang E, Hayes D Jr, Herbig U, Huang JN, Himes R, Jajoo K, Johnson FB, Reynolds SD, Yonekawa Y, Armanios M, Boulad F, DiNardo CD, Dufour C, Goldman FD, Khan S, Kratz C, Myers KC, Raghu G, Alter BP, Aubert G, Bhala S, Cowen EW, Dror Y, El-Youssef M, Friedman B, Giri N, Helms Guba L, Khincha PP, Lin TF, Longhurst H, McReynolds LJ, Nelson A, Olson T, Pariser A, Perona R, Sasa G, Schratz K, Simonetto DA, Townsley D, Walsh M, Stevens K, Agarwal S, Bertuch AA, Savage SA; Clinical Care Consortium for Telomere-associated Ailments (CCCTAA). Higgs C, et al. Among authors: mcreynolds lj. Angiogenesis. 2019 Feb;22(1):95-102. doi: 10.1007/s10456-018-9640-7. Epub 2018 Aug 25. Angiogenesis. 2019. PMID: 30168024 Free article. Review.
Pre-transplant short telomeres are associated with high mortality risk after unrelated donor haematopoietic cell transplant for severe aplastic anaemia.
Wang Y, McReynolds LJ, Dagnall C, Katki HA, Spellman SR, Wang T, Hicks B, Freedman ND, Jones K, Lee SJ, Savage SA, Gadalla SM. Wang Y, et al. Among authors: mcreynolds lj. Br J Haematol. 2020 Jan;188(2):309-316. doi: 10.1111/bjh.16153. Epub 2019 Aug 19. Br J Haematol. 2020. PMID: 31426123 Free PMC article.
Population Frequency of Fanconi Pathway Gene Variants and Their Association with Survival After Hematopoietic Cell Transplantation for Severe Aplastic Anemia.
McReynolds LJ, Wang Y, Thompson AS, Ballew BJ, Kim J, Alter BP, Hicks B, Zhu B, Jones K, Spellman SR, Wang T, Lee SJ, Savage SA, Gadalla SM. McReynolds LJ, et al. Biol Blood Marrow Transplant. 2020 May;26(5):817-822. doi: 10.1016/j.bbmt.2020.01.011. Epub 2020 Jan 23. Biol Blood Marrow Transplant. 2020. PMID: 31982544 Free PMC article.
Gastrointestinal Hemorrhage: A Manifestation of the Telomere Biology Disorders.
Himes RW, Chiou EH, Queliza K, Shouval DS, Somech R, Agarwal S, Jajoo K, Ziegler DS, Kratz CP, Huang J, Lucas TL, Myers KC, Nelson AS, DiNardo CD, Alter BP, Giri N, Khincha PP, McReynolds LJ, Dufour C, Pierri F, Goldman FD, Sherif Y, Savage SA, Miloh T, Bertuch AA. Himes RW, et al. Among authors: mcreynolds lj. J Pediatr. 2021 Mar;230:55-61.e4. doi: 10.1016/j.jpeds.2020.09.038. Epub 2020 Sep 21. J Pediatr. 2021. PMID: 32971146
The causes of Fanconi anemia in South Asia and the Middle East: A case series and review of the literature.
Thompson AS, Saba N, McReynolds LJ, Munir S, Ahmed P, Sajjad S, Jones K, Yeager M, Donovan FX, Chandrasekharappa SC, Alter BP, Savage SA, Rehman S. Thompson AS, et al. Among authors: mcreynolds lj. Mol Genet Genomic Med. 2021 Jul;9(7):e1693. doi: 10.1002/mgg3.1693. Epub 2021 May 7. Mol Genet Genomic Med. 2021. PMID: 33960719 Free PMC article. Review.
52 results