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Page 1
Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity.
Robertson SP, Jenkins ZA, Morgan T, Adès L, Aftimos S, Boute O, Fiskerstrand T, Garcia-Miñaur S, Grix A, Green A, Der Kaloustian V, Lewkonia R, McInnes B, van Haelst MM, Mancini G, Illés T, Mortier G, Newbury-Ecob R, Nicholson L, Scott CI, Ochman K, Brozek I, Shears DJ, Superti-Furga A, Suri M, Whiteford M, Wilkie AO, Krakow D. Robertson SP, et al. Among authors: der kaloustian v. Am J Med Genet A. 2006 Aug 15;140(16):1726-36. doi: 10.1002/ajmg.a.31322. Am J Med Genet A. 2006. PMID: 16835913
A novel phenotypic pattern in X-linked inheritance: craniofrontonasal syndrome maps to Xp22.
Feldman GJ, Ward DE, Lajeunie-Renier E, Saavedra D, Robin NH, Proud V, Robb LJ, Der Kaloustian V, Carey JC, Cohen MM Jr, Cormier V, Munnich A, Zackai EH, Wilkie AO, Price RA, Muenke M. Feldman GJ, et al. Among authors: der kaloustian v. Hum Mol Genet. 1997 Oct;6(11):1937-41. doi: 10.1093/hmg/6.11.1937. Hum Mol Genet. 1997. PMID: 9302274
Phenotypic manifestation in a child with 46,X,der(X)t(X;1)(q24;q31.1).
Collins KA, Eydoux P, Duncan AM, Ortenberg J, Silver K, Der Kaloustian VM. Collins KA, et al. Among authors: der kaloustian vm. Am J Med Genet. 2000 Apr 24;91(5):345-7. doi: 10.1002/(sici)1096-8628(20000424)91:5<345::aid-ajmg4>3.0.co;2-f. Am J Med Genet. 2000. PMID: 10766995
Genetic diseases of the skin: progress and perspectives.
Der Kaloustian VM, Happle R. Der Kaloustian VM, et al. Am J Med Genet C Semin Med Genet. 2004 Nov 15;131C(1):1-3. doi: 10.1002/ajmg.c.30028. Am J Med Genet C Semin Med Genet. 2004. PMID: 15468150 No abstract available.
137 results