Friez MJ - Search Results

1

Clinical and genetic characterization of manifesting carriers of DMD mutations.

Soltanzadeh P, Friez MJ, Dunn D, von Niederhausern A, Gurvich OL, Swoboda KJ, Sampson JB, Pestronk A, Connolly AM, Florence JM, Finkel RS, Bönnemann CG, Medne L, Mendell JR, Mathews KD, Wong BL, Sussman MD, Zonana J, Kovak K, Gospe SM Jr, Gappmaier E, Taylor LE, Howard MT, Weiss RB, Flanigan KM. Soltanzadeh P, et al. Among authors: friez mj. Neuromuscul Disord. 2010 Aug;20(8):499-504. doi: 10.1016/j.nmd.2010.05.010. Epub 2010 Jul 13. Neuromuscul Disord. 2010. PMID: 20630757 Free PMC article.

2

Novel FGFR3 mutations in exon 7 and implications for expanded screening of achondroplasia and hypochondroplasia: a response to Heuertz et al.

Friez MJ, Wilson JA. Friez MJ, et al. Eur J Hum Genet. 2008 Mar;16(3):277-8. doi: 10.1038/sj.ejhg.5201931. Epub 2007 Sep 26. Eur J Hum Genet. 2008. PMID: 17895900 No abstract available.

3

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.

4

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. 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.

5

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. Mov Disord. 2006 Mar;21(3):420-5. doi: 10.1002/mds.20753. Mov Disord. 2006. PMID: 16250026

6

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.

7

Gene symbol: ARX. Disease: Mental retardation.

Dasouki M, Friez MJ. Dasouki M, et al. Among authors: friez mj. Hum Genet. 2008 Jun;123(5):549. Hum Genet. 2008. PMID: 20960639 No abstract available.

8

X-Linked intellectual disability update 2022.

Schwartz CE, Louie RJ, Toutain A, Skinner C, Friez MJ, Stevenson RE. Schwartz CE, et al. Among authors: friez mj. Am J Med Genet A. 2023 Jan;191(1):144-159. doi: 10.1002/ajmg.a.63008. Epub 2022 Oct 27. Am J Med Genet A. 2023. PMID: 36300573

9

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. Genet Med. 2004 Sep-Oct;6(5):421-5. doi: 10.1097/01.GIM.0000139507.20179.3A. Genet Med. 2004. PMID: 15371907 Free article.

10

X chromosome-inactivation patterns of 1,005 phenotypically unaffected females.

Amos-Landgraf JM, Cottle A, Plenge RM, Friez M, Schwartz CE, Longshore J, Willard HF. Amos-Landgraf JM, et al. Am J Hum Genet. 2006 Sep;79(3):493-9. doi: 10.1086/507565. Epub 2006 Jul 27. Am J Hum Genet. 2006. PMID: 16909387 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

103 results

Search Page