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Education: 1971-1976 M.D., Faculty of Medicine, Technion, Institute of Technology, Haifa, Israel-Medicine. 1977-1981 Residency, Bnai-Zion Medical Center-Haifa - Pediatrics. 1983-1986 Fellowship, Harbor Medical Center-UCLA- Los-Angeles-California-USA - Medical Genetics. Current Academic and Professional Position. 1986-present Director, the Simon Winter Institute for Human Genetics, The Bnai-Zion Medical Center, Technion, The Rappaport Faculty of Medicine, Technion Institute of Technology, Haifa, Israel. 2002-present Associate Professor of Pediatrics and Medical Genetics, Rappaport-Faculty of Medicine, Technion Institute of Technology, Haifa, Israel. 005-present Chairman, Clinical Genetics Departments Forum- Technion-Rappaport Faculty of Medicine, Haifa. 005-present Chairman, teaching evaluation committee, Rappaport -Faculty of Medicine, Technion Institute of Technology, Haifa, Israel. 08-present Member, Rappaport Institute, Technion Institute of Technology, Haifa, Israel. 010-present Chairman, The National Supreme Israeli Helsinki Review Committee for Human Research.
Licenses: State of Israel -To practice Medicine - 1976 State of Israel - Pediatrician - 1981 State of Israel - Medical Geneticist - 1988 Teaching Experience: Genetics (General & Clinical). Technion-Rappaport Faculty of Medicine; Haifa University -Faculty of Health and Welfare. Graduate Students: MD Genetics Fellows (10), PhD-Post-Doc's (4), DSc (1), MSc (1), MD (12). Research Interest: The elucidation of the mechanism of morphogenesis and dysmorphology of congenital malformations; The estimation of prevalence of malformations and syndromes in the general population; Bone Dysplasias (Osteochondrodystrophies). Research Grants (Current) 2009-2011 Israeli Ministry of Health - 300,000 INS 2009-2011 Rappaport Institute Research Grant- $45,000 2009-2011 Israeli Ministry of Science -300,000 INS Publications (Last five years) Abu Sa'd J, Indelman M, Pfendner E, Falik-Zaccai T, Mizrachi M, Shalev S, Ben Amitai D, Raas-Rothshild A, Adir-Shani A, Borochowitz Z-U, Gershoni R, Abu-Libdeh B-Y, Khayat M, Landau D, Richard G, Bergman R, Uitto J, Kanaan M, Sprecher E. Molecular epidemiology of hereditary epidermolysis bullosa in a Middle Eastern population. J Invest Dermatology 2006 126:777-781.
Levy Y, Gottesman R, Borochowitz Z, Frydman M, Sagi M. Language in Israeli boys with fragile X syndrome: Questioning the validity of matching on MLU. Journal of Child Language 2006 33(1), 125-144.
Longo I, Scala E, Mari F, Caselli R, Pescucci C, Giani M, Borochowitz Z-U, Sriwardena K, Ingrid W, Renieri A, Meloni I. Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of three families. Nephrol Dialysis Transplantation 2006 21(3):665-671.
Mandel H, Shemer R, Borochowitz ZU, Okopnik M, Knopf C, Indelman M, Drugan A, Tiosano D, Gershoni R, Choder M, Sprecher E. Sex reversal with dysgenesis of kidneys, adrenals and lung (SERKAL syndrome): a novel autosomal recessive disorder caused by a homozygous loss-of-function mutation in WNTA. Am J Hum Genet 2008 82(1):39-47.
Shapira M, Borochowitz ZU. Developmental delay, especially language, in a toddler. Pediatrics & Child's Health 2008 13(9):775-778.
Bargal R, Cormier-Daire V, Ben-Neriah Z, Le Merrer M, Sosna J, Melki J, Zangen DH, Smithson SF, Borochowitz Z, Belostotsky R, Raas-Rothschild A. Mutations in DDR2 Gene Cause SMED with Short Limbs and Abnormal Calcifications Am J Hum Genet 2009 84:1-5.
Reish O, Borochowitz ZU, Adir V, Shohat M, Karpati M, Shotorch A, Orr-Utreger A, Yaron Y, Shalev S, Fares F, Gershuni-Baruch R, Falik-Zaccai T, Chapman-Shimshoni D. Dynamic strategi of the Israeli carrier screening protocol: Inclusion of the oriental Jewish group to the Cystic Fibrosis panel. Genet Med 2009 Feb;11(2):101-3.
Reish O, Shohat M, Magal N, Peso R, Borochowitz ZU, Adir V, Karpati M, Chapman Shimshoni D. Dynamic modification strategy of the Israeli prenatal carrier screening protocol: inclusion of the Oriental Jewish group to the cystic fibrosis panel - update. Genet Med 2009 May;11(5):372.
Campos-Xavier AB, Martinet D, Bateman J, Belluoccio D, Yang Tan T, Baxovà A, Gustavson K-H, Borochowitz Z, Innes M, Unger S, Beckmann J, Mittaz L, Ballhausen D, Superti-Furga A, Savarirayan R, Bonafé L. Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia. Am J Hum Genet 2009 Jun;84(6):760-70.
Shapira M, Borochowitz ZU. Assymetric Crying facies. NeoReviews (Am Acad Pediatrics) 10(10):1-8 2009.
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 41(4):464-469 2009.
Marcus-Braun N, Birk O, Manor E, Segal D, Harari G, Toma I, Shalev S, Borochowitz ZU, Yaron Y, Sharony R, Itzhaky D, Shtoyerman R, Appelman Z, Plotnizky G, Braun G. Dependence of Maternal Serum [AFP] / [HCG] Median Ratios on Age of Gestation: Comparison of Trisomy 21 to Normal Karyotype Pregnancies. Prenatal Diagnosis 29(12):1130-1134 2009.
Harville HM, Held S, Diaz-Font A, Davis EE, Diplas BH, Lewis RA, Borochowitz Z, 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 47(4):262-7 2010.
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