R01DC01402/DC/NIDCD NIH HHS/United States[Grant Number] - Search Results

Year	Number of Results
1998	2
1999	3
2000	2
2001	1
2003	1
2004	4
2005	2
2006	1
2007	1
2022	0

1

Mitochondrial deafness.

Fischel-Ghodsian N. Fischel-Ghodsian N. Ear Hear. 2003 Aug;24(4):303-13. doi: 10.1097/01.AUD.0000079802.82344.B5. Ear Hear. 2003. PMID: 12923421 Review.

2

Mitochondrial deafness mutations reviewed.

Fischel-Ghodsian N. Fischel-Ghodsian N. Hum Mutat. 1999;13(4):261-70. doi: 10.1002/(SICI)1098-1004(1999)13:4<261::AID-HUMU1>3.0.CO;2-W. Hum Mutat. 1999. PMID: 10220138 Review.

3

Mitochondrial mutations and hearing loss: paradigm for mitochondrial genetics.

Fischel-Ghodsian N. Fischel-Ghodsian N. Am J Hum Genet. 1998 Jan;62(1):15-9. doi: 10.1086/301695. Am J Hum Genet. 1998. PMID: 9443888 Free PMC article. Review. No abstract available.

4

Mitochondrial ribosomal proteins: candidate genes for mitochondrial disease.

Sylvester JE, Fischel-Ghodsian N, Mougey EB, O'Brien TW. Sylvester JE, et al. Genet Med. 2004 Mar-Apr;6(2):73-80. doi: 10.1097/01.gim.0000117333.21213.17. Genet Med. 2004. PMID: 15017329 Review.

5

Homoplasmic mitochondrial DNA diseases as the paradigm to understand the tissue specificity and variable clinical severity of mitochondrial disorders.

Fischel-Ghodsian N. Fischel-Ghodsian N. Mol Genet Metab. 2000 Sep-Oct;71(1-2):93-9. doi: 10.1006/mgme.2000.3014. Mol Genet Metab. 2000. PMID: 11001802 Review. No abstract available.

6

Maternally inherited nonsyndromic hearing loss.

Friedman RA, Bykhovskaya Y, Sue CM, DiMauro S, Bradley R, Fallis-Cunningham R, Paradies N, Pensak ML, Smith RJ, Groden J, Li XC, Fischel-Ghodsian N. Friedman RA, et al. Am J Med Genet. 1999 Jun 4;84(4):369-72. doi: 10.1002/(sici)1096-8628(19990604)84:4<369::aid-ajmg12>3.0.co;2-v. Am J Med Genet. 1999. PMID: 10340654

7

Candidate locus for a nuclear modifier gene for maternally inherited deafness.

Bykhovskaya Y, Estivill X, Taylor K, Hang T, Hamon M, Casano RA, Yang H, Rotter JI, Shohat M, Fischel-Ghodsian N. Bykhovskaya Y, et al. Am J Hum Genet. 2000 Jun;66(6):1905-10. doi: 10.1086/302914. Epub 2000 Apr 27. Am J Hum Genet. 2000. PMID: 10788333 Free PMC article.

8

Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA).

Bykhovskaya Y, Casas K, Mengesha E, Inbal A, Fischel-Ghodsian N. Bykhovskaya Y, et al. Am J Hum Genet. 2004 Jun;74(6):1303-8. doi: 10.1086/421530. Epub 2004 Apr 22. Am J Hum Genet. 2004. PMID: 15108122 Free PMC article.

9

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. BMC Med Genet. 2007 Dec 21;8:81. doi: 10.1186/1471-2350-8-81. BMC Med Genet. 2007. PMID: 18154640 Free PMC article.

10

Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation.

Patton JR, Bykhovskaya Y, Mengesha E, Bertolotto C, Fischel-Ghodsian N. Patton JR, et al. J Biol Chem. 2005 May 20;280(20):19823-8. doi: 10.1074/jbc.M500216200. Epub 2005 Mar 16. J Biol Chem. 2005. PMID: 15772074 Free article.

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