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Unusual dicentric chromosome 22 associated with a 22q13 deletion.
Babineau T, Wilson HL, Dawson AJ, Chodirker BN, Der Kaloustian VM, Demczuk S, McDermid HE. Babineau T, et al. Among authors: der kaloustian vm. Am J Med Genet A. 2006 Dec 15;140(24):2819-23. doi: 10.1002/ajmg.a.31500. Am J Med Genet A. 2006. PMID: 17103441 No abstract available.
Deletion of 22q11 in two brothers with different phenotype.
Kasprzak L, Der Kaloustian VM, Elliott AM, Shevell M, Lejtenyi C, Eydoux P. Kasprzak L, et al. Among authors: der kaloustian vm. Am J Med Genet. 1998 Jan 23;75(3):288-91. Am J Med Genet. 1998. PMID: 9475599
An intronic mutation in DKC1 in an infant with Høyeraal-Hreidarsson syndrome.
Pearson T, Curtis F, Al-Eyadhy A, Al-Tamemi S, Mazer B, Dror Y, Abish S, Bale S, Compton J, Ray R, Scott P, Der Kaloustian VM. Pearson T, et al. Among authors: der kaloustian vm. Am J Med Genet A. 2008 Aug 15;146A(16):2159-61. doi: 10.1002/ajmg.a.32412. Am J Med Genet A. 2008. PMID: 18627054 No abstract available.
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
Phenotype of a patient with pure partial trisomy 2p(p23-->pter).
Al-Saffar M, Lemyre E, Koenekoop R, Duncan AM, Der Kaloustian VM. Al-Saffar M, et al. Among authors: der kaloustian vm. Am J Med Genet. 2000 Oct 23;94(5):428-32. doi: 10.1002/1096-8628(20001023)94:5<428::aid-ajmg16>3.0.co;2-m. Am J Med Genet. 2000. PMID: 11050631 Review.
137 results