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Items: 14


Whole-exome sequencing reveals a C-terminal germline variant in CEBPA-associated acute myeloid leukemia: 45-year follow-up of a large family.

Pathak A, Seipel K, Pemov A, Dewan R, Brown C, Ravichandran S, Luke BT, Malasky M, Suman S, Yeager M, Cancer GenomicsResearch Laboratory ND, Cancer Sequencing Working Group ND, Parry DM, Gatti RA, Caporaso NE, Mulvihill J, Goldin LR, Pabst T, McMaster ML, Stewart DR.

Haematologica. 2015 Dec 31. pii: haematol.2015.130799. [Epub ahead of print]


Juvenile myelomonocytic leukemia due to a germline CBL Y371C mutation: 35-year follow-up of a large family.

Pathak A, Pemov A, McMaster ML, Dewan R, Ravichandran S, Pak E, Dutra A, Lee HJ, Vogt A, Zhang X, Yeager M, Anderson S, Kirby M; NCI DCEG Cancer Genomics Research Laboratory; NCI DCEG Cancer Sequencing Working Group, Caporaso N, Greene MH, Goldin LR, Stewart DR.

Hum Genet. 2015 Jul;134(7):775-87. doi: 10.1007/s00439-015-1550-9. Epub 2015 May 5.


Evidence of polyclonality in neurofibromatosis type 2-associated multilobulated vestibular schwannomas.

Dewan R, Pemov A, Kim HJ, Morgan KL, Vasquez RA, Chittiboina P, Wang X, Chandrasekharappa SC, Ray-Chaudhury A, Butman JA, Stewart DR, Asthagiri AR.

Neuro Oncol. 2015 Apr;17(4):566-73. doi: 10.1093/neuonc/nou317. Epub 2014 Dec 1.


Genetic modifiers of neurofibromatosis type 1-associated café-au-lait macule count identified using multi-platform analysis.

Pemov A, Sung H, Hyland PL, Sloan JL, Ruppert SL, Baldwin AM, Boland JF, Bass SE, Lee HJ, Jones KM, Zhang X; NISC Comparative Sequencing Program, Mullikin JC, Widemann BC, Wilson AF, Stewart DR.

PLoS Genet. 2014 Oct 16;10(10):e1004575. doi: 10.1371/journal.pgen.1004575. eCollection 2014 Oct.


Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders.

Stewart DR, Pemov A, Johnston JJ, Sapp JC, Yeager M, He J, Boland JF, Burdett L, Brown C, Gatti RA, Alter BP, Biesecker LG, Savage SA.

PLoS One. 2014 Jun 3;9(6):e98686. doi: 10.1371/journal.pone.0098686. eCollection 2014.


Mitotic recombination of chromosome arm 17q as a cause of loss of heterozygosity of NF1 in neurofibromatosis type 1-associated glomus tumors.

Stewart DR, Pemov A, Van Loo P, Beert E, Brems H, Sciot R, Claes K, Pak E, Dutra A, Lee CC, Legius E.

Genes Chromosomes Cancer. 2012 May;51(5):429-37. doi: 10.1002/gcc.21928. Epub 2012 Jan 17.


Evidence of perturbations of cell cycle and DNA repair pathways as a consequence of human and murine NF1-haploinsufficiency.

Pemov A, Park C, Reilly KM, Stewart DR.

BMC Genomics. 2010 Mar 22;11:194. doi: 10.1186/1471-2164-11-194.


Glomus tumors in neurofibromatosis type 1: genetic, functional, and clinical evidence of a novel association.

Brems H, Park C, Maertens O, Pemov A, Messiaen L, Upadhyaya M, Claes K, Beert E, Peeters K, Mautner V, Sloan JL, Yao L, Lee CC, Sciot R, De Smet L, Legius E, Stewart DR.

Cancer Res. 2009 Sep 15;69(18):7393-401. doi: 10.1158/0008-5472.CAN-09-1752. Epub 2009 Sep 8. Erratum in: Cancer Res. 2009 Oct 15;69(20):8216. Messia, Ludwine [corrected to Messiaen, Ludwine].


A quantitative assessment of the burden and distribution of Lisch nodules in adults with neurofibromatosis type 1.

Boley S, Sloan JL, Pemov A, Stewart DR.

Invest Ophthalmol Vis Sci. 2009 Nov;50(11):5035-43. doi: 10.1167/iovs.09-3650. Epub 2009 Jun 10.


DNA analysis with multiplex microarray-enhanced PCR.

Pemov A, Modi H, Chandler DP, Bavykin S.

Nucleic Acids Res. 2005 Jan 20;33(2):e11.


A potential role for mini-chromosome maintenance (MCM) proteins in initiation at the dihydrofolate reductase replication origin.

Alexandrow MG, Ritzi M, Pemov A, Hamlin JL.

J Biol Chem. 2002 Jan 25;277(4):2702-8. Epub 2001 Nov 26.


Attachment to the nuclear matrix mediates specific alterations in chromatin structure.

Pemov A, Bavykin S, Hamlin JL.

Proc Natl Acad Sci U S A. 1998 Dec 8;95(25):14757-62.

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