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Page 1
Novel pathogenic variants in FOXP3 in fetuses with echogenic bowel and skin desquamation identified by ultrasound.
Louie RJ, Tan QK, Gilner JB, Rogers RC, Younge N, Wechsler SB, McDonald MT, Gordon B, Saski CA, Jones JR, Chapman SJ, Stevenson RE, Sleasman JW, Friez MJ. Louie RJ, et al. Among authors: friez mj. Am J Med Genet A. 2017 May;173(5):1219-1225. doi: 10.1002/ajmg.a.38144. Epub 2017 Mar 20. Am J Med Genet A. 2017. PMID: 28317311 Free PMC article.
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.
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.
105 results