Friez MJ - Search Results

1

A novel intermediate mucolipidosis II/IIIαβ caused by GNPTAB mutation in the cytosolic N-terminal domain.

Leroy JG, Sillence D, Wood T, Barnes J, Lebel RR, Friez MJ, Stevenson RE, Steet R, Cathey SS. Leroy JG, et al. Among authors: friez mj. Eur J Hum Genet. 2014 May;22(5):594-601. doi: 10.1038/ejhg.2013.207. Epub 2013 Sep 18. Eur J Hum Genet. 2014. PMID: 24045841 Free PMC article.

2

Evidence that a dodecamer duplication in the gene HOPA in Xq13 is not associated with mental retardation.

Friez MJ, Essop FB, Krause A, Castiglia L, Ragusa A, Sossey-Alaoui K, Nelson RL, May MM, Michaelis RC, Srivastava AK, Schwartz CE, Stevenson RE, Goldman A, Villard L, Longshore JW. Friez MJ, et al. Hum Genet. 2000 Jan;106(1):36-9. doi: 10.1007/s004390051006. Hum Genet. 2000. PMID: 10982179

3

The HOPA gene dodecamer duplication is not a significant etiological factor in autism.

Michaelis RC, Copeland-Yates SA, Sossey-Alaoui K, Skinner C, Friez MJ, Longshore JW, Simensen RJ, Schroer RJ, Stevenson RE. Michaelis RC, et al. Among authors: friez mj. J Autism Dev Disord. 2000 Aug;30(4):355-8. doi: 10.1023/a:1005583517994. J Autism Dev Disord. 2000. PMID: 11039861

4

Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28.

Friez MJ, Jones JR, Clarkson K, Lubs H, Abuelo D, Bier JA, Pai S, Simensen R, Williams C, Giampietro PF, Schwartz CE, Stevenson RE. Friez MJ, et al. Pediatrics. 2006 Dec;118(6):e1687-95. doi: 10.1542/peds.2006-0395. Epub 2006 Nov 6. Pediatrics. 2006. PMID: 17088400

5

A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome.

Risheg H, Graham JM Jr, Clark RD, Rogers RC, Opitz JM, Moeschler JB, Peiffer AP, May M, Joseph SM, Jones JR, Stevenson RE, Schwartz CE, Friez MJ. Risheg H, et al. Among authors: friez mj. Nat Genet. 2007 Apr;39(4):451-3. doi: 10.1038/ng1992. Epub 2007 Mar 4. Nat Genet. 2007. PMID: 17334363

6

The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene.

Schwartz CE, Tarpey PS, Lubs HA, Verloes A, May MM, Risheg H, Friez MJ, Futreal PA, Edkins S, Teague J, Briault S, Skinner C, Bauer-Carlin A, Simensen RJ, Joseph SM, Jones JR, Gecz J, Stratton MR, Raymond FL, Stevenson RE. Schwartz CE, et al. Among authors: friez mj. J Med Genet. 2007 Jul;44(7):472-7. doi: 10.1136/jmg.2006.048637. Epub 2007 Mar 16. J Med Genet. 2007. PMID: 17369503 Free PMC article.

7

Hypothesis: dysregulation of methylation of brain-expressed genes on the X chromosome and autism spectrum disorders.

Jones JR, Skinner C, Friez MJ, Schwartz CE, Stevenson RE. Jones JR, et al. Among authors: friez mj. Am J Med Genet A. 2008 Sep 1;146A(17):2213-20. doi: 10.1002/ajmg.a.32396. Am J Med Genet A. 2008. PMID: 18698615 Review.

8

Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome.

Lyons MJ, Graham JM Jr, Neri G, Hunter AG, Clark RD, Rogers RC, Moscarda M, Boccuto L, Simensen R, Dodd J, Robertson S, DuPont BR, Friez MJ, Schwartz CE, Stevenson RE. Lyons MJ, et al. Among authors: friez mj. J Med Genet. 2009 Jan;46(1):9-13. doi: 10.1136/jmg.2008.060509. Epub 2008 Sep 19. J Med Genet. 2009. PMID: 18805826

9

Fragile X syndrome detection in newborns-pilot study.

Saul RA, Friez M, Eaves K, Stapleton GA, Collins JS, Schwartz CE, Stevenson RE. Saul RA, et al. Genet Med. 2008 Oct;10(10):714-9. doi: 10.1097/GIM.0b013e3181862a76. Genet Med. 2008. PMID: 18813135 Free article.

10

Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 gene.

Graham JM Jr, Visootsak J, Dykens E, Huddleston L, Clark RD, Jones KL, Moeschler JB, Opitz JM, Morford J, Simensen R, Rogers RC, Schwartz CE, Friez MJ, Stevenson RE. Graham JM Jr, et al. Among authors: friez mj. Am J Med Genet A. 2008 Dec 1;146A(23):3011-7. doi: 10.1002/ajmg.a.32553. Am J Med Genet A. 2008. PMID: 18973276 Free PMC article.

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