Fischel-Ghodsian N - Search Results

1

Human mitochondrial transcription factor B1 as a modifier gene for hearing loss associated with the mitochondrial A1555G mutation.

Bykhovskaya Y, Mengesha E, Wang D, Yang H, Estivill X, Shohat M, Fischel-Ghodsian N. Bykhovskaya Y, et al. Mol Genet Metab. 2004 May;82(1):27-32. doi: 10.1016/j.ymgme.2004.01.020. Mol Genet Metab. 2004. PMID: 15110318

2

A nuclear-mitochondrial DNA interaction affecting hearing impairment in mice.

Johnson KR, Zheng QY, Bykhovskaya Y, Spirina O, Fischel-Ghodsian N. Johnson KR, et al. Nat Genet. 2001 Feb;27(2):191-4. doi: 10.1038/84831. Nat Genet. 2001. PMID: 11175788 Free PMC article.

3

Heart-specific splice-variant of a human mitochondrial ribosomal protein (mRNA processing; tissue specific splicing).

Spirina O, Bykhovskaya Y, Kajava AV, O'Brien TW, Nierlich DP, Mougey EB, Sylvester JE, Graack HR, Wittmann-Liebold B, Fischel-Ghodsian N. Spirina O, et al. Gene. 2000 Dec 31;261(2):229-34. doi: 10.1016/s0378-1119(00)00504-7. Gene. 2000. PMID: 11167009

4

Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4.

de Kok YJ, Vossenaar ER, Cremers CW, Dahl N, Laporte J, Hu LJ, Lacombe D, Fischel-Ghodsian N, Friedman RA, Parnes LS, Thorpe P, Bitner-Glindzicz M, Pander HJ, Heilbronner H, Graveline J, den Dunnen JT, Brunner HG, Ropers HH, Cremers FP. de Kok YJ, et al. Hum Mol Genet. 1996 Sep;5(9):1229-35. doi: 10.1093/hmg/5.9.1229. Hum Mol Genet. 1996. PMID: 8872461

5

The gene for familial Mediterranean fever in both Armenians and non-Ashkenazi Jews is linked to the alpha-globin complex on 16p: evidence for locus homogeneity.

Shohat M, Bu X, Shohat T, Fischel-Ghodsian N, Magal N, Nakamura Y, Schwabe AD, Schlezinger M, Danon Y, Rotter JI. Shohat M, et al. Am J Hum Genet. 1992 Dec;51(6):1349-54. Am J Hum Genet. 1992. PMID: 1463015 Free PMC article.

6

Sensorineural deafness inherited as a tissue specific mitochondrial disorder.

Jaber L, Shohat M, Bu X, Fischel-Ghodsian N, Yang HY, Wang SJ, Rotter JI. Jaber L, et al. J Med Genet. 1992 Feb;29(2):86-90. doi: 10.1136/jmg.29.2.86. J Med Genet. 1992. PMID: 1613771 Free PMC article.

7

Assessment of pyrin gene mutations in Turks with familial Mediterranean fever (FMF).

Chen X, Fischel-Ghodsian N, Cercek A, Hamon M, Ogur G, Lotan R, Danon Y, Shohat M. Chen X, et al. Hum Mutat. 1998;11(6):456-60. doi: 10.1002/(SICI)1098-1004(1998)11:6<456::AID-HUMU6>3.0.CO;2-G. Hum Mutat. 1998. PMID: 9603438

8

Pleiotropic effects and compensation mechanisms determine tissue specificity in mitochondrial myopathy and sideroblastic anemia (MLASA).

Bykhovskaya Y, Mengesha E, Fischel-Ghodsian N. Bykhovskaya Y, et al. Among authors: fischel ghodsian n. Mol Genet Metab. 2007 Jun;91(2):148-56. doi: 10.1016/j.ymgme.2007.02.006. Epub 2007 Mar 19. Mol Genet Metab. 2007. PMID: 17374500 Free PMC article.

9

Mitochondrial dysfunction in hearing loss.

Fischel-Ghodsian N, Kopke RD, Ge X. Fischel-Ghodsian N, et al. Mitochondrion. 2004 Sep;4(5-6):675-94. doi: 10.1016/j.mito.2004.07.040. Epub 2004 Nov 6. Mitochondrion. 2004. PMID: 16120424

10

MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene.

Ballana E, Mercader JM, Fischel-Ghodsian N, Estivill X. Ballana E, et al. Among authors: fischel ghodsian n. BMC Med Genet. 2007 Dec 21;8:81. doi: 10.1186/1471-2350-8-81. BMC Med Genet. 2007. PMID: 18154640 Free PMC article.

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