Shalata A - 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. 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

Localization of a gene for molybdenum cofactor deficiency, on the short arm of chromosome 6, by homozygosity mapping.

Shalata A, Mandel H, Reiss J, Szargel R, Cohen-Akenine A, Dorche C, Zabot MT, Van Gennip A, Abeling N, Berant M, Cohen N. Shalata A, et al. Am J Hum Genet. 1998 Jul;63(1):148-54. doi: 10.1086/301916. Am J Hum Genet. 1998. PMID: 9634514 Free PMC article.

3

Crohn disease: frequency and nature of CARD15 mutations in Ashkenazi and Sephardi/Oriental Jewish families.

Tukel T, Shalata A, Present D, Rachmilewitz D, Mayer L, Grant D, Risch N, Desnick RJ. Tukel T, et al. Among authors: shalata a. Am J Hum Genet. 2004 Apr;74(4):623-36. doi: 10.1086/382226. Epub 2004 Mar 5. Am J Hum Genet. 2004. PMID: 15024686 Free PMC article.

4

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. Muscle Nerve. 2010 Apr;41(4):464-9. doi: 10.1002/mus.21525. Muscle Nerve. 2010. PMID: 19697366

5

A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.

Corbett MA, Bahlo M, Jolly L, Afawi Z, Gardner AE, Oliver KL, Tan S, Coffey A, Mulley JC, Dibbens LM, Simri W, Shalata A, Kivity S, Jackson GD, Berkovic SF, Gecz J. Corbett MA, et al. Among authors: shalata a. Am J Hum Genet. 2010 Sep 10;87(3):371-5. doi: 10.1016/j.ajhg.2010.08.001. Am J Hum Genet. 2010. PMID: 20797691 Free PMC article.

6

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: shalata a. Bioinformatics. 2013 Jan 15;29(2):197-205. doi: 10.1093/bioinformatics/bts658. Epub 2012 Nov 18. Bioinformatics. 2013. PMID: 23162081 Free PMC article.

7

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. J Endocrinol Invest. 2013 Jun;36(6):417-21. doi: 10.3275/8762. Epub 2012 Nov 26. J Endocrinol Invest. 2013. PMID: 23211319

8

Homozygous LIPE mutation in siblings with multiple symmetric lipomatosis, partial lipodystrophy, and myopathy.

Zolotov S, Xing C, Mahamid R, Shalata A, Sheikh-Ahmad M, Garg A. Zolotov S, et al. Among authors: shalata a. Am J Med Genet A. 2017 Jan;173(1):190-194. doi: 10.1002/ajmg.a.37880. Epub 2016 Nov 11. Am J Med Genet A. 2017. PMID: 27862896 Free PMC article.

9

Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood.

Shalata A, Lauhasurayotin S, Leibovitz Z, Li H, Hebert D, Dhanraj S, Hadid Y, Mahroum M, Bajar J, Egenburg S, Arad A, Shohat M, Haddad S, Bakry H, Moshiri H, Scherer SW, Tzur S, Dror Y. Shalata A, et al. J Med Genet. 2019 May;56(5):340-346. doi: 10.1136/jmedgenet-2018-105421. Epub 2018 Oct 16. J Med Genet. 2019. PMID: 30327448

10

Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness.

Labay V, Raz T, Baron D, Mandel H, Williams H, Barrett T, Szargel R, McDonald L, Shalata A, Nosaka K, Gregory S, Cohen N. Labay V, et al. Among authors: shalata a. Nat Genet. 1999 Jul;22(3):300-4. doi: 10.1038/10372. Nat Genet. 1999. PMID: 10391221

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