Der Kaloustian VM - Search Results

1

Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome.

Anastasio N, Ben-Omran T, Teebi A, Ha KC, Lalonde E, Ali R, Almureikhi M, Der Kaloustian VM, Liu J, Rosenblatt DS, Majewski J, Jerome-Majewska LA. Anastasio N, et al. Among authors: der kaloustian vm. Am J Hum Genet. 2010 Oct 8;87(4):553-9. doi: 10.1016/j.ajhg.2010.09.005. Am J Hum Genet. 2010. PMID: 20887961 Free PMC article.

2

Additional EFNB1 mutations in craniofrontonasal syndrome.

Wallis D, Lacbawan F, Jain M, Der Kaloustian VM, Steiner CE, Moeschler JB, Losken HW, Kaitila II, Cantrell S, Proud VK, Carey JC, Day DW, Lev D, Teebi AS, Robinson LK, Hoyme HE, Al-Torki N, Siegel-Bartelt J, Mulliken JB, Robin NH, Saavedra D, Zackai EH, Muenke M. Wallis D, et al. Among authors: der kaloustian vm. Am J Med Genet A. 2008 Aug 1;146A(15):2008-12. doi: 10.1002/ajmg.a.32388. Am J Med Genet A. 2008. PMID: 18627045 Free PMC article. No abstract available.

3

Linkage analysis of the nail-patella syndrome.

Campeau E, Watkins D, Rouleau GA, Babul R, Buchanan JA, Meschino W, Der Kaloustian VM. Campeau E, et al. Among authors: der kaloustian vm. Am J Hum Genet. 1995 Jan;56(1):243-7. Am J Hum Genet. 1995. PMID: 7825584 Free PMC article.

4

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.

5

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.

6

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

7

Knobloch syndrome involving midline scalp defect of the frontal region.

Sniderman LC, Koenekoop RK, O'Gorman AM, Usher RH, Sufrategui MR, Moroz B, Watters GV, Der Kaloustian VM. Sniderman LC, et al. Among authors: der kaloustian vm. Am J Med Genet. 2000 Jan 17;90(2):146-9. Am J Med Genet. 2000. PMID: 10607954 Review.

8

Duplication of 9q12-q33: a case report and implications for the dup(9q) syndrome.

Stalker HJ, Aymé S, Delneste D, Scarpelli H, Vekemans M, Der Kaloustian VM. Stalker HJ, et al. Among authors: der kaloustian vm. Am J Med Genet. 1993 Feb 15;45(4):456-9. doi: 10.1002/ajmg.1320450412. Am J Med Genet. 1993. PMID: 8465850 Review.

9

Possible common pathogenetic mechanisms for Poland sequence and Adams-Oliver syndrome.

Der Kaloustian VM, Hoyme HE, Hogg H, Entin MA, Guttmacher AE. Der Kaloustian VM, et al. Am J Med Genet. 1991 Jan;38(1):69-73. doi: 10.1002/ajmg.1320380116. Am J Med Genet. 1991. PMID: 2012136

10

Two novel fibrillin-2 mutations in congenital contractural arachnodactyly.

Belleh S, Zhou G, Wang M, Der Kaloustian VM, Pagon RA, Godfrey M. Belleh S, et al. Among authors: der kaloustian vm. Am J Med Genet. 2000 May 1;92(1):7-12. Am J Med Genet. 2000. PMID: 10797416

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