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Laboratory of Molecular Genetics
Head of Laboratory: Mordechai Shohat M.D.
Research Topics
Genes causing non-specific mental retardation
Genes causing other syndromes with mental retardation
Infantile Bilateral Striatal Necrosis
Autosomal recessive mental retardation syndrome with anterior maxillary protrusion and strabismus: MRAMS syndrome
Genes causing skeletal dysplasias: Spondyloepimetaphyseal dysplasia Shohat type
Maternally transmitted deafness
Familial Mediterranean Fever
Identification of genes involved in familial coronary artery disease and cardiac defects
Identification of genes involved in familial heterotaxy syndrome
A retrospective research for the evaluation of the effect of imiglucerase on long and small bones in Gaucher disease
Oncogenetics: Genetic factors predisposing to cancer
Autosomal dominant nephritis
Selected Publications
Basel-Vanagaite L, Zevit N, Har Zahav A, Guo L, Parathath S, Pasmanik-Chor M, McIntyre AD, Wang J, Albin-Kaplanski A, Hartman C, Marom D, Zeharia A, Badir A, Shoerman O, Simon AJ, Rechavi G, Shohat M, Hegele RA, Fisher EA, Shamir R. Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1. Am J Hum Genet 90:49-60, 2012. MEDLINE
Tomashov-Matar R, Biran G, Lagovsky I, Kotler N, Stein A, Fisch B, Sapir O, Shohat M. Severe combined immunodeficiency (SCID): From the detection of a new mutation to preimplantation genetic diagnosis. J Assist Reprod Genet Genet 29:687-692, 2012. MEDLINE
Shaffer LG, Dabell MP, Rosenfeld JA, Neill NJ, Ballif BC, Coppinger J, Diwan NR, Chong K, Shohat M, Chitayat D. Referral patterns for microarray testing in prenatal diagnosis. Prenat Diagn 32:344–350, 2012. MEDLINE
Shohat M, Halpern GJ (updated April 2012) Familial Mediterranean Fever in: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle, 1997-2010. Available at http://www.genetests.org.
Basel-Vanagaite L, Dallapiccola B, Ramirez-Solis R, Segref A, Thiele H, Edwards A, Arends MJ, Miró X, White JK, Désir J, Abramowicz M, Dentici ML, Lepri F, Hofmann K, Har-Zahav A, Ryder E, Karp NA, Estabel J, Gerdin AK, Podrini C, Ingham NJ, Altmüller J, N?rnberg G, Frommolt P, Abdelhak S, Pasmanik-Chor M, Konen O, Kelley RI, Shohat M, Nülrnberg P, Flint J, Steel KP, Hoppe T, Kubisch C, Adams DJ, Borck G. Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome. Am J Hum Genet 91:998-1010, 2012. MEDLINE
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