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Tatton-Brown-Rahman syndrome: Six individuals with novel features.
Balci TB, Strong A, Kalish JM, Zackai E, Maris JM, Reilly A, Surrey LF, Wertheim GB, Marcadier JL, Graham GE, Carter MT. Balci TB, et al. Among authors: graham ge. Am J Med Genet A. 2020 Apr;182(4):673-680. doi: 10.1002/ajmg.a.61475. Epub 2020 Jan 21. Am J Med Genet A. 2020. PMID: 31961069
Discordant phenotypes in a mother and daughter with mosaic supernumerary ring chromosome 19 explained by a de novo 7q36.2 deletion and 7p22.1 duplication.
Argiropoulos B, Carter M, Brierley K, Hare H, Bouchard A, Al-Hertani W, Ryan SR, Reid J, Basik M, McGowan-Jordan J, Graham GE. Argiropoulos B, et al. Among authors: graham ge. Am J Med Genet A. 2011 Apr;155A(4):885-91. doi: 10.1002/ajmg.a.33918. Epub 2011 Mar 17. Am J Med Genet A. 2011. PMID: 21416596
Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.
Gripp KW, Hopkins E, Sol-Church K, Stabley DL, Axelrad ME, Doyle D, Dobyns WB, Hudson C, Johnson J, Tenconi R, Graham GE, Sousa AB, Heller R, Piccione M, Corsello G, Herman GE, Tartaglia M, Lin AE. Gripp KW, et al. Among authors: graham ge. Am J Med Genet A. 2011 Apr;155A(4):706-16. doi: 10.1002/ajmg.a.33884. Epub 2011 Mar 15. Am J Med Genet A. 2011. PMID: 21438134 Free PMC article.
Severe craniosynostosis in an infant with deletion 22q11.2 syndrome.
Al-Hertani W, Hastings VA, McGowan-Jordan J, Hurteau J, Graham GE. Al-Hertani W, et al. Among authors: graham ge. Am J Med Genet A. 2013 Jan;161A(1):153-7. doi: 10.1002/ajmg.a.35491. Epub 2012 Dec 13. Am J Med Genet A. 2013. PMID: 23239640
An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.
Gripp KW, Sol-Church K, Smpokou P, Graham GE, Stevenson DA, Hanson H, Viskochil DH, Baker LC, Russo B, Gardner N, Stabley DL, Kolbe V, Rosenberger G. Gripp KW, et al. Among authors: graham ge. Am J Med Genet A. 2015 Sep;167A(9):2085-97. doi: 10.1002/ajmg.a.37128. Epub 2015 Apr 25. Am J Med Genet A. 2015. PMID: 25914166 Free PMC article.
74 results