Nahhas F - Search Results

1

Outcomes of individuals with profound and partial biotinidase deficiency ascertained by newborn screening in Michigan over 25 years.

Jay AM, Conway RL, Feldman GL, Nahhas F, Spencer L, Wolf B. Jay AM, et al. Among authors: nahhas f. Genet Med. 2015 Mar;17(3):205-9. doi: 10.1038/gim.2014.104. Epub 2014 Aug 21. Genet Med. 2015. PMID: 25144890 Free article.

2

Novel mutations causing biotinidase deficiency in individuals identified by newborn screening in Michigan including an unique intronic mutation that alters mRNA expression of the biotinidase gene.

Li H, Spencer L, Nahhas F, Miller J, Fribley A, Feldman G, Conway R, Wolf B. Li H, et al. Among authors: nahhas f. Mol Genet Metab. 2014 Jul;112(3):242-6. doi: 10.1016/j.ymgme.2014.04.002. Epub 2014 Apr 16. Mol Genet Metab. 2014. PMID: 24797656

3

An intergenerational contraction of a fully penetrant Huntington disease allele to a reduced penetrance allele: interpretation of results and significance for risk assessment and genetic counseling.

Nahhas F, Garbern J, Feely S, Feldman GL. Nahhas F, et al. Am J Med Genet A. 2009 Feb 15;149A(4):732-6. doi: 10.1002/ajmg.a.32720. Am J Med Genet A. 2009. PMID: 19267413

4

Three-year experience of a CAP/ACMG methods-based external proficiency testing program for laboratories offering DNA sequencing for rare inherited disorders.

Richards CS, Palomaki GE, Lacbawan FL, Lyon E, Feldman GL; CAP/ACMG Biochemical and Molecular Genetics Resource Committee. Richards CS, et al. Genet Med. 2014 Jan;16(1):25-32. doi: 10.1038/gim.2013.65. Epub 2013 May 23. Genet Med. 2014. PMID: 23703682 Free article.

5

Extra alleles in FMR1 triple-primed PCR: artifact, aneuploidy, or somatic mosaicism?

Wakeling EN, Nahhas FA, Feldman GL. Wakeling EN, et al. Among authors: nahhas fa. J Mol Diagn. 2014 Nov;16(6):689-96. doi: 10.1016/j.jmoldx.2014.06.006. J Mol Diagn. 2014. PMID: 25307758 Free article.

6

Juvenile onset Huntington disease resulting from a very large maternal expansion.

Nahhas FA, Garbern J, Krajewski KM, Roa BB, Feldman GL. Nahhas FA, et al. Am J Med Genet A. 2005 Sep 1;137A(3):328-31. doi: 10.1002/ajmg.a.30891. Am J Med Genet A. 2005. PMID: 16096998

7

Evaluation of the human fragile X mental retardation 1 polymerase chain reaction reagents to amplify the FMR1 gene: testing in a clinical diagnostic laboratory.

Nahhas FA, Monroe TJ, Prior TW, Botma PI, Fang J, Snyder PJ, Talbott SL, Feldman GL. Nahhas FA, et al. Genet Test Mol Biomarkers. 2012 Mar;16(3):187-92. doi: 10.1089/gtmb.2011.0128. Epub 2011 Oct 12. Genet Test Mol Biomarkers. 2012. PMID: 21992462

8

Diagnostic markers of ovarian cancer by high-throughput antigen cloning and detection on arrays.

Chatterjee M, Mohapatra S, Ionan A, Bawa G, Ali-Fehmi R, Wang X, Nowak J, Ye B, Nahhas FA, Lu K, Witkin SS, Fishman D, Munkarah A, Morris R, Levin NK, Shirley NN, Tromp G, Abrams J, Draghici S, Tainsky MA. Chatterjee M, et al. Among authors: nahhas fa. Cancer Res. 2006 Jan 15;66(2):1181-90. doi: 10.1158/0008-5472.CAN-04-2962. Cancer Res. 2006. PMID: 16424057 Free PMC article.

9

Mutations in SIRT2 deacetylase which regulate enzymatic activity but not its interaction with HDAC6 and tubulin.

Nahhas F, Dryden SC, Abrams J, Tainsky MA. Nahhas F, et al. Mol Cell Biochem. 2007 Sep;303(1-2):221-30. doi: 10.1007/s11010-007-9478-6. Epub 2007 May 22. Mol Cell Biochem. 2007. PMID: 17516032

10

Expression profiling identifies three pathways altered in cellular immortalization: interferon, cell cycle, and cytoskeleton.

Fridman AL, Tang L, Kulaeva OI, Ye B, Li Q, Nahhas F, Roberts PC, Land SJ, Abrams J, Tainsky MA. Fridman AL, et al. Among authors: nahhas f. J Gerontol A Biol Sci Med Sci. 2006 Sep;61(9):879-89. doi: 10.1093/gerona/61.9.879. J Gerontol A Biol Sci Med Sci. 2006. PMID: 16960018

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