Pak E - Search Results

1

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. Pathak A, et al. Among authors: pak e. Hum Genet. 2015 Jul;134(7):775-87. doi: 10.1007/s00439-015-1550-9. Epub 2015 May 5. Hum Genet. 2015. PMID: 25939664 Free PMC article. Clinical Trial.

2

A genomic map of a 6-Mb region at 13q21-q22 implicated in cancer development: identification and characterization of candidate genes.

Rozenblum E, Vahteristo P, Sandberg T, Bergthorsson JT, Syrjakoski K, Weaver D, Haraldsson K, Johannsdottir HK, Vehmanen P, Nigam S, Golberger N, Robbins C, Pak E, Dutra A, Gillander E, Stephan DA, Bailey-Wilson J, Juo SH, Kainu T, Arason A, Barkardottir RB, Nevanlinna H, Borg A, Kallioniemi OP. Rozenblum E, et al. Among authors: pak e. Hum Genet. 2002 Feb;110(2):111-21. doi: 10.1007/s00439-001-0646-6. Epub 2001 Dec 14. Hum Genet. 2002. PMID: 11935316

3

A female with complete lack of Müllerian fusion, postaxial polydactyly, and tetralogy of fallot: genetic heterogeneity of McKusick-Kaufman syndrome or a unique syndrome?

Slavotinek AM, Dutra A, Kpodzo D, Pak E, Nakane T, Turner J, Whiteford M, Biesecker LG, Stratton P. Slavotinek AM, et al. Among authors: pak e. Am J Med Genet A. 2004 Aug 15;129A(1):69-72. doi: 10.1002/ajmg.a.30071. Am J Med Genet A. 2004. PMID: 15266619

4

Chromosome 8 BAC array comparative genomic hybridization and expression analysis identify amplification and overexpression of TRMT12 in breast cancer.

Rodriguez V, Chen Y, Elkahloun A, Dutra A, Pak E, Chandrasekharappa S. Rodriguez V, et al. Among authors: pak e. Genes Chromosomes Cancer. 2007 Jul;46(7):694-707. doi: 10.1002/gcc.20454. Genes Chromosomes Cancer. 2007. PMID: 17440925

5

Genetics of carney triad: recurrent losses at chromosome 1 but lack of germline mutations in genes associated with paragangliomas and gastrointestinal stromal tumors.

Matyakhina L, Bei TA, McWhinney SR, Pasini B, Cameron S, Gunawan B, Stergiopoulos SG, Boikos S, Muchow M, Dutra A, Pak E, Campo E, Cid MC, Gomez F, Gaillard RC, Assie G, Füzesi L, Baysal BE, Eng C, Carney JA, Stratakis CA. Matyakhina L, et al. Among authors: pak e. J Clin Endocrinol Metab. 2007 Aug;92(8):2938-43. doi: 10.1210/jc.2007-0797. Epub 2007 May 29. J Clin Endocrinol Metab. 2007. PMID: 17535989

6

An unstable targeted allele of the mouse Mitf gene with a high somatic and germline reversion rate.

Bismuth K, Skuntz S, Hallsson JH, Pak E, Dutra AS, Steingrímsson E, Arnheiter H. Bismuth K, et al. Among authors: pak e. Genetics. 2008 Jan;178(1):259-72. doi: 10.1534/genetics.107.081893. Genetics. 2008. PMID: 18202372 Free PMC article.

7

Advantages of q-PCR as a method of screening for gene targeting in mammalian cells using conventional and whole BAC-based constructs.

Gómez-Rodríguez J, Washington V, Cheng J, Dutra A, Pak E, Liu P, McVicar DW, Schwartzberg PL. Gómez-Rodríguez J, et al. Among authors: pak e. Nucleic Acids Res. 2008 Oct;36(18):e117. doi: 10.1093/nar/gkn523. Epub 2008 Aug 18. Nucleic Acids Res. 2008. PMID: 18710883 Free PMC article.

8

Comparative sequence analyses reveal sites of ancestral chromosomal fusions in the Indian muntjac genome.

Tsipouri V, Schueler MG, Hu S; NISC Comparative Sequencing Program; Dutra A, Pak E, Riethman H, Green ED. Tsipouri V, et al. Among authors: pak e. Genome Biol. 2008 Oct 28;9(10):R155. doi: 10.1186/gb-2008-9-10-r155. Genome Biol. 2008. PMID: 18957082 Free PMC article.

9

DNA damage responses by human ELG1 in S phase are important to maintain genomic integrity.

Sikdar N, Banerjee S, Lee KY, Wincovitch S, Pak E, Nakanishi K, Jasin M, Dutra A, Myung K. Sikdar N, et al. Among authors: pak e. Cell Cycle. 2009 Oct 1;8(19):3199-207. doi: 10.4161/cc.8.19.9752. Epub 2009 Oct 7. Cell Cycle. 2009. PMID: 19755857 Free PMC article.

10

Nuclear bud formation: a novel manifestation of Zidovudine genotoxicity.

Dutra A, Pak E, Wincovitch S, John K, Poirier MC, Olivero OA. Dutra A, et al. Among authors: pak e. Cytogenet Genome Res. 2010;128(1-3):105-10. doi: 10.1159/000298794. Epub 2010 Apr 20. Cytogenet Genome Res. 2010. PMID: 20407220 Free PMC article.

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