Hoppman N - Search Results

1

A functional haplotype in EIF2AK3, an ER stress sensor, is associated with lower bone mineral density.

Liu J, Hoppman N, O'Connell JR, Wang H, Streeten EA, McLenithan JC, Mitchell BD, Shuldiner AR. Liu J, et al. Among authors: hoppman n. J Bone Miner Res. 2012 Feb;27(2):331-41. doi: 10.1002/jbmr.549. J Bone Miner Res. 2012. PMID: 22028037 Free PMC article.

2

A common variant in fibroblast growth factor binding protein 1 (FGFBP1) is associated with bone mineral density and influences gene expression in vitro.

Hoppman N, McLenithan JC, McBride DJ, Shen H, Bruder J, Bauer RL, Shaffer JR, Liu J, Streeten EA, Shuldiner AR, Kammerer CM, Mitchell BD. Hoppman N, et al. Bone. 2010 Aug;47(2):272-80. doi: 10.1016/j.bone.2010.04.607. Epub 2010 May 5. Bone. 2010. PMID: 20450993 Free PMC article.

3

Polymorphisms in both promoters of hepatocyte nuclear factor 4-alpha are associated with type 2 diabetes in the Amish.

Damcott CM, Hoppman N, Ott SH, Reinhart LJ, Wang J, Pollin TI, O'Connell JR, Mitchell BD, Shuldiner AR. Damcott CM, et al. Among authors: hoppman n. Diabetes. 2004 Dec;53(12):3337-41. doi: 10.2337/diabetes.53.12.3337. Diabetes. 2004. PMID: 15561969

4

Hepatic lipase genotype, diabetes risk, and implications for preventative medicine.

Shuldiner AR, Hoppman N, Pollin TI. Shuldiner AR, et al. Among authors: hoppman n. J Clin Endocrinol Metab. 2004 May;89(5):2015-8. doi: 10.1210/jc.2004-0521. J Clin Endocrinol Metab. 2004. PMID: 15126513 Review. No abstract available.

5

Novel t(5;11)(q32;q13.4) with NUMA1-PDGFRB fusion in a myeloid neoplasm with eosinophilia with response to imatinib mesylate.

Zou YS, Hoppman NL, Singh ZN, Sawhney S, Kotiah SD, Baer MR. Zou YS, et al. Among authors: hoppman nl. Cancer Genet. 2017 Apr;212-213:38-44. doi: 10.1016/j.cancergen.2017.03.004. Epub 2017 Mar 27. Cancer Genet. 2017. PMID: 28449810

6

Patterns of homozygosity in patients with uniparental disomy: detection rate and suggested reporting thresholds for SNP microarrays.

Hoppman N, Rumilla K, Lauer E, Kearney H, Thorland E. Hoppman N, et al. Genet Med. 2018 Dec;20(12):1522-1527. doi: 10.1038/gim.2018.24. Epub 2018 Mar 22. Genet Med. 2018. PMID: 29565418 Free article.

7

Genetic testing for hearing loss in the United States should include deletion/duplication analysis for the deafness/infertility locus at 15q15.3.

Hoppman N, Aypar U, Brodersen P, Brown N, Wilson J, Babovic-Vuksanovic D. Hoppman N, et al. Mol Cytogenet. 2013 May 6;6(1):19. doi: 10.1186/1755-8166-6-19. Mol Cytogenet. 2013. PMID: 23648117 Free PMC article.

8

Integrated genomic analysis using chromosomal microarray, fluorescence in situ hybridization and mate pair analyses: Characterization of a cryptic t(9;22)(p24.1;q11.2)/BCR-JAK2 in myeloid/lymphoid neoplasm with eosinophilia.

Snider JS, Znoyko I, Lindsey KG, Morse J, Baughn LB, Hoppman NL, Pitel BA, Pearce KE, Schandl CA, Wolff DJ. Snider JS, et al. Cancer Genet. 2020 Aug;246-247:44-47. doi: 10.1016/j.cancergen.2020.08.004. Epub 2020 Aug 7. Cancer Genet. 2020. PMID: 32827877

9

Utilizing next-generation sequencing to characterize a case of acute myeloid leukemia with t(4;12)(q12;p13) in the absence of ETV6/CHIC2 and ETV6/PDGFRA gene fusions.

Koleilat A, McGarrah PW, Olteanu H, Van Dyke DL, Smadbeck JB, Johnson SH, Vasmatzis G, Hoppman NL, Xu X, Ketterling RP, Greipp PT, Baughn LB, Patnaik MS, Peterson JF. Koleilat A, et al. Cancer Genet. 2022 Jan;260-261:1-5. doi: 10.1016/j.cancergen.2021.11.002. Epub 2021 Nov 6. Cancer Genet. 2022. PMID: 34781094

10

Characterizing false-positive fluorescence in situ hybridization results by mate-pair sequencing in a patient with chronic myeloid leukemia and progression to myeloid blast crisis.

Lopes JL, Webley M, Pitel BA, Pearce KE, Smadbeck JB, Johnson SH, Vasmatzis G, Sukov WR, Greipp PT, Hoppman NL, Ketterling RP, Baughn LB, Finn L, Peterson JF. Lopes JL, et al. Cancer Genet. 2020 May;243:48-51. doi: 10.1016/j.cancergen.2020.02.008. Epub 2020 Mar 17. Cancer Genet. 2020. PMID: 32272434

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