Der Kaloustian VM - Search Results

1

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

2

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

3

Molecular analysis of Gaucher disease: screening of patients in the Montreal/Quebec region.

Choy FY, Woo M, Der Kaloustian VM. Choy FY, et al. Among authors: der kaloustian vm. Am J Med Genet. 1991 Dec 15;41(4):469-74. doi: 10.1002/ajmg.1320410418. Am J Med Genet. 1991. PMID: 1776640

4

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.

5

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.

6

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.

7

Molecular analysis of Gaucher disease in a Vietnamese-Czechoslovak patient with high residual glucocerebrosidase activity.

Choy FY, Woo M, Der Kaloustian VM. Choy FY, et al. Among authors: der kaloustian vm. Am J Med Genet. 1991 Jun 15;39(4):466-71. doi: 10.1002/ajmg.1320390419. Am J Med Genet. 1991. PMID: 1877626

8

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

9

King syndrome: further clinical variability and review of the literature.

Graham GE, Silver K, Arlet V, Der Kaloustian VM. Graham GE, et al. Among authors: der kaloustian vm. Am J Med Genet. 1998 Jul 7;78(3):254-9. doi: 10.1002/(sici)1096-8628(19980707)78:3<254::aid-ajmg9>3.0.co;2-p. Am J Med Genet. 1998. PMID: 9677061 Review.

10

Unilateral radio-ulnar synostosis, generalized hypotonia, developmental retardation, and a characteristic facial appearance in sibs: a new syndrome.

Der Kaloustian VM, McIntosh N, Silver K, Blaichman S, Halal F. Der Kaloustian VM, et al. Am J Med Genet. 1992 Aug 1;43(6):942-5. doi: 10.1002/ajmg.1320430607. Am J Med Genet. 1992. PMID: 1384331

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