Mandel H - 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. Nat Genet. 2001 Nov;29(3):337-41. doi: 10.1038/ng746. Nat Genet. 2001. PMID: 11687800

2

Depletion of the other genome-mitochondrial DNA depletion syndromes in humans.

Elpeleg O, Mandel H, Saada A. Elpeleg O, et al. Among authors: mandel h. J Mol Med (Berl). 2002 Jul;80(7):389-96. doi: 10.1007/s00109-002-0343-5. Epub 2002 May 24. J Mol Med (Berl). 2002. PMID: 12110944

3

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: mandel h. Nat Genet. 1999 Jul;22(3):300-4. doi: 10.1038/10372. Nat Genet. 1999. PMID: 10391221

4

The hepatic mitochondrial DNA depletion syndrome: ultrastructural changes in liver biopsies.

Mandel H, Hartman C, Berkowitz D, Elpeleg ON, Manov I, Iancu TC. Mandel H, et al. Hepatology. 2001 Oct;34(4 Pt 1):776-84. doi: 10.1053/jhep.2001.27664. Hepatology. 2001. PMID: 11584375

5

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy.

Saada A, Shaag A, Mandel H, Nevo Y, Eriksson S, Elpeleg O. Saada A, et al. Among authors: mandel h. Nat Genet. 2001 Nov;29(3):342-4. doi: 10.1038/ng751. Nat Genet. 2001. PMID: 11687801

6

Mitochondrial deoxyribonucleoside triphosphate pools in thymidine kinase 2 deficiency.

Saada A, Ben-Shalom E, Zyslin R, Miller C, Mandel H, Elpeleg O. Saada A, et al. Among authors: mandel h. Biochem Biophys Res Commun. 2003 Oct 24;310(3):963-6. doi: 10.1016/j.bbrc.2003.09.104. Biochem Biophys Res Commun. 2003. PMID: 14550298

7

Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews.

Spiegel R, Shaag A, Mandel H, Reich D, Penyakov M, Hujeirat Y, Saada A, Elpeleg O, Shalev SA. Spiegel R, et al. Among authors: mandel h. Eur J Hum Genet. 2009 Sep;17(9):1200-3. doi: 10.1038/ejhg.2009.24. Epub 2009 Mar 4. Eur J Hum Genet. 2009. PMID: 19259137 Free PMC article.

8

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. Among authors: mandel h. Am J Hum Genet. 1998 Jul;63(1):148-54. doi: 10.1086/301916. Am J Hum Genet. 1998. PMID: 9634514 Free PMC article.

9

Refined mapping of the gene for thiamine-responsive megaloblastic anemia syndrome and evidence for genetic homogeneity.

Raz T, Barrett T, Szargel R, Mandel H, Neufeld EJ, Nosaka K, Viana MB, Cohen N. Raz T, et al. Among authors: mandel h. Hum Genet. 1998 Oct;103(4):455-61. doi: 10.1007/s004390050850. Hum Genet. 1998. PMID: 9856490

10

Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews.

Shaag A, Saada A, Berger I, Mandel H, Joseph A, Feigenbaum A, Elpeleg ON. Shaag A, et al. Among authors: mandel h. Am J Med Genet. 1999 Jan 15;82(2):177-82. Am J Med Genet. 1999. PMID: 9934985

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