Shalata A - Search Results

1

The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA.

Mandel H, Szargel R, Labay V, Elpeleg O, Saada A, Shalata A, Anbinder Y, Berkowitz D, Hartman C, Barak M, Eriksson S, Cohen N. Mandel H, et al. Among authors: shalata a. Nat Genet. 2001 Nov;29(3):337-41. doi: 10.1038/ng746. Nat Genet. 2001. PMID: 11687800

2

Performance of CellDetect for detection of bladder cancer: Comparison with urine cytology and UroVysion.

Shefer HK, Masarwe I, Bejar J, Naamnih LH, Gueta-Milshtein K, Shalata A, Hadid Y, Nativ O, Nativ O. Shefer HK, et al. Among authors: shalata a. Urol Oncol. 2023 Jun;41(6):296.e1-296.e8. doi: 10.1016/j.urolonc.2022.12.012. Epub 2023 Jan 14. Urol Oncol. 2023. PMID: 36642638

3

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.

4

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

5

Prenatal diagnosis and carrier detection for molybdenum cofactor deficiency type A in northern Israel using polymorphic DNA markers.

Shalata A, Mandel H, Dorche C, Zabot MT, Shalev S, Hugeirat Y, Arieh D, Ronit Z, Reiss J, Anbinder Y, Cohen N. Shalata A, et al. Prenat Diagn. 2000 Jan;20(1):7-11. Prenat Diagn. 2000. PMID: 10701843

6

Androgenetic alopecia in heterozygous carriers of a mutation in the human hairless gene.

Sprecher E, Shalata A, Dabhah K, Futerman B, Lin S, Szargel R, Bergman R, Friedman-Birnbaum R, Cohen N. Sprecher E, et al. Among authors: shalata a. J Am Acad Dermatol. 2000 Jun;42(6):978-82. J Am Acad Dermatol. 2000. PMID: 10827399

7

Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin.

Sprecher E, Bergman R, Richard G, Lurie R, Shalev S, Petronius D, Shalata A, Anbinder Y, Leibu R, Perlman I, Cohen N, Szargel R. Sprecher E, et al. Among authors: shalata a. Nat Genet. 2001 Oct;29(2):134-6. doi: 10.1038/ng716. Nat Genet. 2001. PMID: 11544476

8

Primary Coenzyme Q deficiency Due to Novel ADCK3 Variants, Studies in Fibroblasts and Review of Literature.

Shalata A, Edery M, Habib C, Genizi J, Mahroum M, Khalaily L, Assaf N, Segal I, Abed El Rahim H, Shapira H, Urian D, Tzur S, Douiev L, Saada A. Shalata A, et al. Neurochem Res. 2019 Oct;44(10):2372-2384. doi: 10.1007/s11064-019-02786-5. Epub 2019 Apr 9. Neurochem Res. 2019. PMID: 30968303

9

Exome sequencing links the SUMO protease SENP7 with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia.

Samra N, Jansen NS, Morani I, Kakun RR, Zaid R, Paperna T, Garcia-Dominguez M, Viner Y, Frankenthal H, Shinwell ES, Portnov I, Bakry D, Shalata A, Shapira Rootman M, Kidron D, Claessens LA, Wevers RA, Mandel H, Vertegaal ACO, Weiss K. Samra N, et al. Among authors: shalata a. J Med Genet. 2023 Nov;60(11):1133-1141. doi: 10.1136/jmg-2023-109267. Epub 2023 Jul 17. J Med Genet. 2023. PMID: 37460201

10

Intra-familial clinical heterogeneity: absence of genotype-phenotype correlation in primary hyperoxaluria type 1 in Israel.

Frishberg Y, Rinat C, Shalata A, Khatib I, Feinstein S, Becker-Cohen R, Weismann I, Wanders RJ, Rumsby G, Roels F, Mandel H. Frishberg Y, et al. Among authors: shalata a. Am J Nephrol. 2005 May-Jun;25(3):269-75. doi: 10.1159/000086357. Epub 2005 Jun 15. Am J Nephrol. 2005. PMID: 15961946

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