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Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X).
Basehore MJ, Michaelson-Cohen R, Levy-Lahad E, Sismani C, Bird LM, Friez MJ, Walsh T, Abidi F, Holloway L, Skinner C, McGee S, Alexandrou A, Syrrou M, Patsalis PC, Raymond G, Wang T, Schwartz CE, King MC, Stevenson RE. Basehore MJ, et al. Among authors: friez mj. Clin Genet. 2015 May;87(5):461-6. doi: 10.1111/cge.12420. Epub 2014 May 30. Clin Genet. 2015. PMID: 24805811 Review.
Expanding the phenotypic spectrum of L1CAM-associated disease.
Basel-Vanagaite L, Straussberg R, Friez MJ, Inbar D, Korenreich L, Shohat M, Schwartz CE. Basel-Vanagaite L, et al. Among authors: friez mj. Clin Genet. 2006 May;69(5):414-9. doi: 10.1111/j.1399-0004.2006.00607.x. Clin Genet. 2006. PMID: 16650080
A previously unreported mutation in a Currarino syndrome kindred.
Wang RY, Jones JR, Chen S, Rogers RC, Friez MJ, Schwartz CE, Graham JM Jr. Wang RY, et al. Among authors: friez mj. Am J Med Genet A. 2006 Sep 15;140(18):1923-30. doi: 10.1002/ajmg.a.31420. Am J Med Genet A. 2006. PMID: 16906559
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
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.
104 results