Back to Faculty Page | Back to Department Page | Back to University of Haifa |
ZVI-URI BOROCHOWITZ, MD.
School of Public Health
Faculty of Social Welfare and Health Studies
University of Haifa, Haifa 31905
Phone: 972-4-835-9459
Email: mdzvi@technion.ac.il
RESEARCH AREAS
• The elucidation of the mechanism of morphogenesis and
dysmorphology of congenital malformations.
• The estimation of prevalence of malformations and syndromes in the
general population.
• Being the National Center for Diagnosis and Treatment of Bone
Dysplasias (Osteochondrodystrophies), research is conducted in
this
area, especially on genotype \ phenotype relations of these
syndromes.
EDUCATION
Years
1976
1977-1981
1983-1986
Institute
Technion-Faculty of Medicine-Haifa
Bnai-Zion Medical Center-Haifa
Harbor Medical Center-UCLA-LosAngeles-California-USA
Degree
MD
Pediatrics
Medical
Genetics
CURRENT POSITION Chairman, The Simon Winter Institute for
Human Genetics, Bnai-Zion Medical
Center, Haifa
Associate Professor of Pediatrics and
Medical Genetics, Technion – Rappaport
Faculty of Medicine, Haifa, Israel
Chairman, Israeli National Helsinki
Committee for Human Medical Research
PUBLISHED WORK
ARTICLES IN REFEREED JOURNALS
Shalata A, Furman C, Adir V, Adir N, Hujeirat Y, Shalev A. S, Borochowitz ZU.
Myotonia Congenita. In a large consanguineous Arab family. I nsight into the
clinical spectrum of carriers and double heterozygotes of a novel mutation in the
Chloride channel CLCN1 Gene. Muscle and Nerve Journal 2010 Apr 41(4):464469.
Harville HM, Held S, Diaz-Font A, Davis EE, Diplas BH, Lewis RA,
Borochowitz ZU, Zhou W, Chaki M, MacDonald J, Kayserili H, Beales PL,
Katsanis N, Otto E, Hildebrandt F. Identification of 11 Novel Mutations in 8 BBS
Genes by High-Resolution Homozygosity Mapping.
J Med Genet 2010 Apr 47(4):262-267.
Shalev SA, Spiegel R, Borochowitz ZU.A distinctive autosomal recessive
Syndrome of severe disproportionate short stature with short long bones,
brachydactyly, and hypotrichosis in two consanguineous Arab families.
Eur J Med Genet 2012 (in press)
Sarig O, Nahum S, Rapaport D, Ishida-Yamamoto A, Fuchs-Telem D, Qiaoli Li,
Cohen-Katsenelson K, Spiegel R, Nousbeck J, Israeli S, Borochowitz ZU,
Padalon-Brauch G, Uitto J, Horowitz M, Shalev S, Sprecher E. Short statureonychodysplasia-facial dysmorphism-hypotrichosis (SOFT) syndrome caused by
a mutation in POC1A. Am J Hum Genet 2012 (in press)
Huber C, Ali Faqeih E, Bartholdi D, Bole-Feysot C, Borochowitz ZU, Frigo A,
Nitschke P, Santos H, Shalev S, Superti-Furga A, Delezoide A-L,Le Merrer M,
Munnich A, Cormier-Daire V. Exome sequencing identifies INPPL1 mutations as
a cause of opsismodyplasia Am J Hum Genet 2012 (in press)
Shalata A, Ramirez MC, Desnick RJ, Priedigkeit N, Buettner C, Lindtner C,
Mahrom M, Abdul-Ghani M, Arar N, Camacho-Vanegas O, Zhang R, Camacho
SC, Chen Y, Ibdah M, Shahin S, DeFronzo R, Gillespie V, Kelley K, Dynlacht
BD, Kim, S, Glucksman MJ, Borochowitz ZU, Martignetti J. A morbid obesity
syndrome resulting from inactivation of the ciliary protein MO-1/CEP19. Nature
2013
Melamed O, Magal N, Cohen R, Pras E, Reznik-Wolf H, Friedman M, Lerer I,
Borochowitz ZU, Davidov B, Behar D, Baris HN. Founder Mutation of
Huntington Disease in Caucasus Jews. J Mol Neuroscience 2013