Borochowitz ZU - Search Results

1

Morbid obesity resulting from inactivation of the ciliary protein CEP19 in humans and mice.

Shalata A, Ramirez MC, Desnick RJ, Priedigkeit N, Buettner C, Lindtner C, Mahroum M, Abdul-Ghani M, Dong F, Arar N, Camacho-Vanegas O, Zhang R, Camacho SC, Chen Y, Ibdah M, DeFronzo R, Gillespie V, Kelley K, Dynlacht BD, Kim S, Glucksman MJ, Borochowitz ZU, Martignetti JA. Shalata A, et al. Among authors: borochowitz zu. Am J Hum Genet. 2013 Dec 5;93(6):1061-71. doi: 10.1016/j.ajhg.2013.10.025. Epub 2013 Nov 21. Am J Hum Genet. 2013. PMID: 24268657 Free PMC article.

2

Early metabolic defects in Arab subjects with strong family history of Type 2 diabetes.

Shalata A, Jazmawi W, Aslan O, Badarni K, Dabbah K, Sawaed S, Cohen Castel O, Borochowitz ZU, Karkabi K, Defronzo R, Abdul-Ghani M. Shalata A, et al. Among authors: borochowitz zu. J Endocrinol Invest. 2013 Jun;36(6):417-21. doi: 10.3275/8762. Epub 2012 Nov 26. J Endocrinol Invest. 2013. PMID: 23211319

3

Myotonia congenita in a large consanguineous Arab family: insight into the clinical spectrum of carriers and double heterozygotes of a novel mutation in the chloride channel CLCN1 gene.

Shalata A, Furman H, Adir V, Adir N, Hujeirat Y, Shalev SA, Borochowitz ZU. Shalata A, et al. Among authors: borochowitz zu. Muscle Nerve. 2010 Apr;41(4):464-9. doi: 10.1002/mus.21525. Muscle Nerve. 2010. PMID: 19697366

4

Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications.

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. Bargal R, et al. Am J Hum Genet. 2009 Jan;84(1):80-4. doi: 10.1016/j.ajhg.2008.12.004. Epub 2008 Dec 24. Am J Hum Genet. 2009. PMID: 19110212 Free PMC article.

5

Ataxia-telangiectasia: linkage analysis in highly inbred Arab and Druze families and differentiation from an ataxia-microcephaly-cataract syndrome.

Ziv Y, Frydman M, Lange E, Zelnik N, Rotman G, Julier C, Jaspers NG, Dagan Y, Abeliovicz D, Dar H, Borochowitz Z, Lathrop M, Gatti RA, Shiloh Y. Ziv Y, et al. Hum Genet. 1992 Mar;88(6):619-26. doi: 10.1007/BF02265285. Hum Genet. 1992. PMID: 1551665 Free article.

6

SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4.

Mandel H, Shemer R, Borochowitz ZU, Okopnik M, Knopf C, Indelman M, Drugan A, Tiosano D, Gershoni-Baruch R, Choder M, Sprecher E. Mandel H, et al. Among authors: borochowitz zu. Am J Hum Genet. 2008 Jan;82(1):39-47. doi: 10.1016/j.ajhg.2007.08.005. Am J Hum Genet. 2008. PMID: 18179883 Free PMC article.

7

A system for exact and approximate genetic linkage analysis of SNP data in large pedigrees.

Silberstein M, Weissbrod O, Otten L, Tzemach A, Anisenia A, Shtark O, Tuberg D, Galfrin E, Gannon I, Shalata A, Borochowitz ZU, Dechter R, Thompson E, Geiger D. Silberstein M, et al. Among authors: borochowitz zu. Bioinformatics. 2013 Jan 15;29(2):197-205. doi: 10.1093/bioinformatics/bts658. Epub 2012 Nov 18. Bioinformatics. 2013. PMID: 23162081 Free PMC article.

8

New multiple congenital anomalies: mental retardation syndrome (MCA/MR) with facio-cutaneous-skeletal involvement.

Borochowitz Z, Pavone L, Mazor G, Rizzo R, Dar H. Borochowitz Z, et al. Am J Med Genet. 1992 Jul 1;43(4):678-85. doi: 10.1002/ajmg.1320430405. Am J Med Genet. 1992. PMID: 1621757 Review.

9

Predisposition to the fragile X syndrome in Jews of Tunisian descent is due to the absence of AGG interruptions on a rare Mediterranean haplotype.

Falik-Zaccai TC, Shachak E, Yalon M, Lis Z, Borochowitz Z, Macpherson JN, Nelson DL, Eichler EE. Falik-Zaccai TC, et al. Am J Hum Genet. 1997 Jan;60(1):103-12. Am J Hum Genet. 1997. PMID: 8981953 Free PMC article.

10

Coronary heart disease among Circassians in Israel is not associated with mutations in thrombophilia genes.

Falik-Zaccai TC, Haron Y, Eilat D, Harash B, Golinker E, Hussein O, Eisikovits R, Borochowitz Z, Linn S. Falik-Zaccai TC, et al. Hum Biol. 2003 Feb;75(1):57-68. doi: 10.1353/hub.2003.0021. Hum Biol. 2003. PMID: 12713146

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