Der Kaloustian VM - Search Results

1

Prenatal diagnosis of monosomy 1p36: a focus on brain abnormalities and a review of the literature.

Campeau PM, Ah Mew N, Cartier L, Mackay KL, Shaffer LG, Der Kaloustian VM, Thomas MA. Campeau PM, et al. Among authors: der kaloustian vm. Am J Med Genet A. 2008 Dec 1;146A(23):3062-9. doi: 10.1002/ajmg.a.32563. Am J Med Genet A. 2008. PMID: 19006213 Review.

2

Connexin mutation testing of children with nonsyndromic, autosomal recessive sensorineural hearing loss.

Thomas MA, Der Kaloustian VM, Tewfik TL. Thomas MA, et al. Among authors: der kaloustian vm. J Otolaryngol. 2004 Jun;33(3):189-92. doi: 10.2310/7070.2004.00189. J Otolaryngol. 2004. PMID: 15841999

3

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.

4

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

5

A presumptive translocation 1p;2q resulting in duplication 1p and deletion 2q.

Halal F, Vekemans M, Der Kaloustian VM. Halal F, et al. Among authors: der kaloustian vm. Am J Med Genet. 1989 Mar;32(3):376-9. doi: 10.1002/ajmg.1320320322. Am J Med Genet. 1989. PMID: 2658588 Review.

6

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

7

A de novo 2.1-Mb deletion of 13q12.11 in a child with developmental delay and minor dysmorphic features.

Der Kaloustian VM, Russell L, Aradhya S, Richard G, Rosenblatt B, Melançon S. Der Kaloustian VM, et al. Am J Med Genet A. 2011 Oct;155A(10):2538-42. doi: 10.1002/ajmg.a.34198. Am J Med Genet A. 2011. PMID: 22043489

8

Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype.

Al-Thihli K, Rudkin T, Carson N, Poulin C, Melançon S, Der Kaloustian VM. Al-Thihli K, et al. Among authors: der kaloustian vm. Am J Med Genet A. 2008 Sep 15;146A(18):2412-6. doi: 10.1002/ajmg.a.32456. Am J Med Genet A. 2008. PMID: 18698610

9

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.

10

Aminopterin-like syndrome sine aminopterin associated with translocation involving chromosomes 5 and 10.

Chen MF, Vekemans M, Meagher-Villemure K, Outerbridge E, Fraser FC, Der Kaloustian VM. Chen MF, et al. Among authors: der kaloustian vm. Am J Med Genet. 1990 Dec;37(4):478-81. doi: 10.1002/ajmg.1320370411. Am J Med Genet. 1990. PMID: 2260592

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