Friez M - Search Results

1

Genotype-phenotype correlation and frequency of the 3199del6 cystic fibrosis mutation among I148T carriers: results from a collaborative study.

Monaghan KG, Highsmith WE, Amos J, Pratt VM, Roa B, Friez M, Pike-Buchanan LL, Buyse IM, Redman JB, Strom CM, Young AL, Sun W. Monaghan KG, et al. Among authors: friez m. Genet Med. 2004 Sep-Oct;6(5):421-5. doi: 10.1097/01.GIM.0000139507.20179.3A. Genet Med. 2004. PMID: 15371907 Free article.

2

Chromatin structure of the simian virus 40 late promoter: a deletional analysis.

Friez M, Hermansen R, Milavetz B. Friez M, et al. J Virol. 1999 Mar;73(3):1990-7. doi: 10.1128/JVI.73.3.1990-1997.1999. J Virol. 1999. PMID: 9971779 Free PMC article.

3

Whole-Genome and Segmental Homozygosity Confirm Errors in Meiosis as Etiology of Struma Ovarii.

Henderson BB, Chaubey A, Roth LM, Robboy SJ, Tarasidis G, Jones JR, Sundermann JM, Chou J, Craddock AL, Stevenson L, Friez MJ, Kincaid EH, Stevenson RE. Henderson BB, et al. Among authors: friez mj. Cytogenet Genome Res. 2020;160(1):2-10. doi: 10.1159/000504908. Epub 2019 Dec 20. Cytogenet Genome Res. 2020. PMID: 31865307 Free article.

4

Early progressive encephalopathy in boys and MECP2 mutations.

Kankirawatana P, Leonard H, Ellaway C, Scurlock J, Mansour A, Makris CM, Dure LS 4th, Friez M, Lane J, Kiraly-Borri C, Fabian V, Davis M, Jackson J, Christodoulou J, Kaufmann WE, Ravine D, Percy AK. Kankirawatana P, et al. Among authors: friez m. Neurology. 2006 Jul 11;67(1):164-6. doi: 10.1212/01.wnl.0000223318.28938.45. Neurology. 2006. PMID: 16832102

5

Identification of Simian virus 40 promoter DNA sequences capable of conferring restriction endonuclease hypersensitivity.

Hermansen R, Sierra MA, Johnson J, Friez M, Milavetz B. Hermansen R, et al. Among authors: friez m. J Virol. 1996 Jun;70(6):3416-22. doi: 10.1128/JVI.70.6.3416-3422.1996. J Virol. 1996. PMID: 8648673 Free PMC article.

6

Parkinsonism, dysautonomia, and intranuclear inclusions in a fragile X carrier: a clinical-pathological study.

Louis E, Moskowitz C, Friez M, Amaya M, Vonsattel JP. Louis E, et al. Among authors: friez m. Mov Disord. 2006 Mar;21(3):420-5. doi: 10.1002/mds.20753. Mov Disord. 2006. PMID: 16250026

7

Correction: Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711.

Wang J, Foroutan A, Richardson E, Skinner SA, Reilly J, Kerkhof J, Curry CJ, Tarpey PS, Robertson SP, Maystadt I, Keren B, Dixon JW, Skinner C, Stapleton R, Ruaud L, Gumus E, Lakeman P, Alders M, Tedder ML, Schwartz CE, Friez MJ, Sadikovic B, Stevenson RE. Wang J, et al. Among authors: friez mj. Eur J Hum Genet. 2023 Dec 1. doi: 10.1038/s41431-023-01499-2. Online ahead of print. Eur J Hum Genet. 2023. PMID: 38040915 No abstract available.

8

Transcriptional regulation of the MET receptor tyrosine kinase gene by MeCP2 and sex-specific expression in autism and Rett syndrome.

Plummer JT, Evgrafov OV, Bergman MY, Friez M, Haiman CA, Levitt P, Aldinger KA. Plummer JT, et al. Among authors: friez m. Transl Psychiatry. 2013 Oct 22;3(10):e316. doi: 10.1038/tp.2013.91. Transl Psychiatry. 2013. PMID: 24150225 Free PMC article.

9

Bioelectronic sensor technology for detection of cystic fibrosis and hereditary hemochromatosis mutations.

Bernacki SH, Farkas DH, Shi W, Chan V, Liu Y, Beck JC, Bailey KS, Pratt VM, Monaghan KG, Matteson KJ, Schaefer FV, Friez M, Shrimpton AE, Stenzel TT. Bernacki SH, et al. Among authors: friez m. Arch Pathol Lab Med. 2003 Dec;127(12):1565-72. doi: 10.5858/2003-127-1565-BSTFDO. Arch Pathol Lab Med. 2003. PMID: 14632577 Free article.

10

Genetically characterized positive control cell lines derived from residual clinical blood samples.

Bernacki SH, Beck JC, Stankovic AK, Williams LO, Amos J, Snow-Bailey K, Farkas DH, Friez MJ, Hantash FM, Matteson KJ, Monaghan KG, Muralidharan K, Pratt VM, Prior TW, Richie KL, Levin BC, Rohlfs EM, Schaefer FV, Shrimpton AE, Spector EB, Stolle CA, Strom CM, Thibodeau SN, Cole EC, Goodman BK, Stenzel TT. Bernacki SH, et al. Among authors: friez mj. Clin Chem. 2005 Nov;51(11):2013-24. doi: 10.1373/clinchem.2005.048694. Epub 2005 Sep 15. Clin Chem. 2005. PMID: 16166172

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