V
Vazken M. Der Kaloustian
Researcher at McGill University
Publications - 102
Citations - 3372
Vazken M. Der Kaloustian is an academic researcher from McGill University. The author has contributed to research in topics: Ectodermal dysplasia & Monosomy. The author has an hindex of 29, co-authored 102 publications receiving 3266 citations. Previous affiliations of Vazken M. Der Kaloustian include Montreal Children's Hospital & American University of Beirut.
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Journal ArticleDOI
Usher Syndrome 1D and Nonsyndromic Autosomal Recessive Deafness DFNB12 Are Caused by Allelic Mutations of the Novel Cadherin-Like Gene CDH23
Julie M. Bork,Linda M. Peters,Saima Riazuddin,Saima Riazuddin,S. L. Bernstein,Zubair M. Ahmed,Zubair M. Ahmed,Seth L. Ness,Robert C. Polomeno,Arabandi Ramesh,Arabandi Ramesh,Melvin D. Schloss,C. R. Srikumari Srisailpathy,C. R. Srikumari Srisailpathy,Sigrid Wayne,Susan Bellman,Dilip Desmukh,Zahoor Ahmed,Shaheen N. Khan,Vazken M. Der Kaloustian,X. Cindy Li,Anil K. Lalwani,Sheikh Riazuddin,Maria Bitner-Glindzicz,Walter E. Nance,Xue-Zhong Liu,Graeme Wistow,Richard J.H. Smith,Andrew J. Griffith,Edward R. Wilcox,Thomas B. Friedman,Robert J. Morell +31 more
TL;DR: Genes causing nonsyndromic autosomal recessive deafness (DFNB12) and deafness associated with retinitis pigmentosa and vestibular dysfunction (USH1D) were previously mapped to overlapping regions of chromosome 10q21-q22, but mutations in a novel cadherin-like gene, CDH23, were found both in families with DFNB12 and in Families with USH1D.
Journal ArticleDOI
Positional cloning of the gene for Nijmegen breakage syndrome.
Shinya Matsuura,Hiroshi Tauchi,Asako Nakamura,Noriko Kondo,Shuichi Sakamoto,Satoru Endo,Dominique Smeets,B. Sölder,Bernd H. Belohradsky,Vazken M. Der Kaloustian,Mitsuo Oshimura,Minoru Isomura,Yusuke Nakamura,Kenshi Komatsu +13 more
TL;DR: The authors reported the positional cloning of the Nijmegen breakage syndrome (NBS) gene, NBS1, from an 800-kb candidate region and detected the same 5-bp deletion in 13 individuals, and concluded that it is likely to be a founder mutation.
Journal ArticleDOI
Haploinsufficiency of HDAC4 Causes Brachydactyly Mental Retardation Syndrome, with Brachydactyly Type E, Developmental Delays, and Behavioral Problems
Stephen R. Williams,Micheala A. Aldred,Vazken M. Der Kaloustian,Vazken M. Der Kaloustian,Fahed Halal,Gordon C. Gowans,D. Ross McLeod,Sara Zondag,Helga V. Toriello,R. Ellen Magenis,Sarah H. Elsea +10 more
TL;DR: Data presented here show that deletion or mutation of HDAC4 results in reduced expression of RAI1, which causes Smith-Magenis syndrome when haploinsufficient, providing a link to the overlapping findings in these disorders.
Journal ArticleDOI
Mutations in GJB6 cause hidrotic ectodermal dysplasia.
Jérôme Lamartine,Guilherme Munhoz Essenfelder,Zoha Kibar,Isabelle Lanneluc,Edwige Callouet,Dalila Laoudj,Gilles Lemaitre,Colette Hand,Susan J. Hayflick,Jonathan Zonana,Stylianos E. Antonarakis,Uppala Radhakrishna,David P. Kelsell,A. L. Christianson,Amandine Pitaval,Vazken M. Der Kaloustian,C.M. F. Clarke Fraser Ph.D.,Claudine Blanchet-Bardon,Guy A. Rouleau,Gilles Waksman +19 more
Journal ArticleDOI
Differential impact of the FMR1 gene on visual processing in fragile X syndrome.
Cary S. Kogan,Isabelle Boutet,Kim Cornish,Shahin Zangenehpour,Kathy T. Mullen,Jeanette J. A. Holden,Vazken M. Der Kaloustian,Eva Andermann,Avi Chaudhuri +8 more
TL;DR: Findings provide the first evidence that the loss of a single gene product, FMRP, in humans leads to abnormal neuroanatomical morphology of the LGN and a concomitant selective visual deficit of the M pathway.