Der Kaloustian VM - Search Results

1

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

2

Costello syndrome.

Der Kaloustian VM, Moroz B, McIntosh N, Watters AK, Blaichman S. Der Kaloustian VM, et al. Am J Med Genet. 1991 Oct 1;41(1):69-73. doi: 10.1002/ajmg.1320410118. Am J Med Genet. 1991. PMID: 1951465

3

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.

4

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.

5

Translocation between chromosomes 6 and 15 (45,XX,t(6;15)(q25;q11.2)) with further evidence for lack of imprinting of the insulin-like growth factor II/mannose-6-phosphate receptor in humans.

Treacy E, Polychronakos C, Vekemans M, Eydoux P, Blaichman S, Scarpelli H, Ross M, Xu Y, Der Kaloustian VM. Treacy E, et al. Among authors: der kaloustian vm. J Med Genet. 1996 Jan;33(1):42-6. doi: 10.1136/jmg.33.1.42. J Med Genet. 1996. PMID: 8825047 Free PMC article.

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

Pelizaeus-Merzbacher disease in a family of Portuguese origin caused by a point mutation in exon 5 of the proteolipid protein gene.

Pratt VM, Boyadjiev S, Dlouhy SR, Silver K, Der Kaloustian VM, Hodes ME. Pratt VM, et al. Among authors: der kaloustian vm. Am J Med Genet. 1995 Feb 13;55(4):402-4. doi: 10.1002/ajmg.1320550403. Am J Med Genet. 1995. PMID: 7539212

8

Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations.

Di Donato N, Rump A, Koenig R, Der Kaloustian VM, Halal F, Sonntag K, Krause C, Hackmann K, Hahn G, Schrock E, Verloes A. Di Donato N, et al. Among authors: der kaloustian vm. Eur J Hum Genet. 2014 Feb;22(2):179-83. doi: 10.1038/ejhg.2013.130. Epub 2013 Jun 12. Eur J Hum Genet. 2014. PMID: 23756437 Free PMC article.

9

Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems.

Williams SR, Aldred MA, Der Kaloustian VM, Halal F, Gowans G, McLeod DR, Zondag S, Toriello HV, Magenis RE, Elsea SH. Williams SR, et al. Among authors: der kaloustian vm. Am J Hum Genet. 2010 Aug 13;87(2):219-28. doi: 10.1016/j.ajhg.2010.07.011. Am J Hum Genet. 2010. PMID: 20691407 Free PMC article.

10

Skeletal and cardiac malformations with thrombocytopenia: a new syndrome?

Rupps R, Elliott AM, Azouz EM, Bernstein ML, Kaplan P, Eydoux P, Der Kaloustian VM. Rupps R, et al. Among authors: der kaloustian vm. Am J Med Genet. 1996 Aug 23;64(3):497-500. doi: 10.1002/(SICI)1096-8628(19960823)64:3<497::AID-AJMG10>3.0.CO;2-G. Am J Med Genet. 1996. PMID: 8862629

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