Giannoulia-Karantana A - Search Results

1

Are GJB2 mutations an aggravating factor in the phenotypic expression of mitochondrial non-syndromic deafness?

Kokotas H, Grigoriadou M, Korres GS, Ferekidou E, Giannoulia-Karantana A, Kandiloros D, Korres S, Petersen MB. Kokotas H, et al. Among authors: giannoulia karantana a. J Hum Genet. 2010 May;55(5):265-9. doi: 10.1038/jhg.2010.23. Epub 2010 Mar 19. J Hum Genet. 2010. PMID: 20300122 Review.

2

Sudden hearing loss in a family with GJB2 related progressive deafness.

Kokotas H, Theodosiou M, Korres G, Grigoriadou M, Ferekidou E, Giannoulia-Karantana A, Petersen MB, Korres S. Kokotas H, et al. Int J Pediatr Otorhinolaryngol. 2008 Nov;72(11):1735-40. doi: 10.1016/j.ijporl.2008.08.006. Epub 2008 Sep 21. Int J Pediatr Otorhinolaryngol. 2008. PMID: 18809215

3

Strong linkage disequilibrium for the frequent GJB2 35delG mutation in the Greek population.

Kokotas H, Van Laer L, Grigoriadou M, Iliadou V, Economides J, Pomoni S, Pampanos A, Eleftheriades N, Ferekidou E, Korres S, Giannoulia-Karantana A, Van Camp G, Petersen MB. Kokotas H, et al. Among authors: giannoulia karantana a. Am J Med Genet A. 2008 Nov 15;146A(22):2879-84. doi: 10.1002/ajmg.a.32546. Am J Med Genet A. 2008. PMID: 18925674

4

The A1555G mitochondrial DNA mutation in Greek patients with non-syndromic, sensorineural hearing loss.

Kokotas H, Grigoriadou M, Korres GS, Ferekidou E, Papadopoulou E, Neou P, Giannoulia-Karantana A, Kandiloros D, Korres S, Petersen MB. Kokotas H, et al. Among authors: giannoulia karantana a. Biochem Biophys Res Commun. 2009 Dec 18;390(3):755-7. doi: 10.1016/j.bbrc.2009.10.044. Epub 2009 Oct 14. Biochem Biophys Res Commun. 2009. PMID: 19835846

5

Easy, rapid, and cost-effective methods for identifying carriers of recurrent GJB2 mutations causing nonsyndromic hearing impairment in the Greek population.

Kokotas H, Grigoriadou M, Hatzaki A, Antoniadi T, Giannoulia-Karantana A, Petersen MB. Kokotas H, et al. Among authors: giannoulia karantana a. Genet Test Mol Biomarkers. 2010 Apr;14(2):189-92. doi: 10.1089/gtmb.2009.0136. Genet Test Mol Biomarkers. 2010. PMID: 20059378

6

Hypothesizing an ancient Greek origin of the GJB2 35delG mutation: can science meet history?

Kokotas H, Grigoriadou M, Villamar M, Giannoulia-Karantana A, del Castillo I, Petersen MB. Kokotas H, et al. Among authors: giannoulia karantana a. Genet Test Mol Biomarkers. 2010 Apr;14(2):183-7. doi: 10.1089/gtmb.2009.0146. Genet Test Mol Biomarkers. 2010. PMID: 20073550

7

Investigating the impact of the Down syndrome related common MTHFR 677C>T polymorphism in the Danish population.

Kokotas H, Grigoriadou M, Mikkelsen M, Giannoulia-Karantana A, Petersen MB. Kokotas H, et al. Among authors: giannoulia karantana a. Dis Markers. 2009;27(6):279-85. doi: 10.3233/DMA-2009-0673. Dis Markers. 2009. PMID: 20075510 Free PMC article.

8

Pathologic, radiographic and molecular findings in three fetuses diagnosed with HEM/Greenberg skeletal dysplasia.

Konstantinidou A, Karadimas C, Waterham HR, Superti-Furga A, Kaminopetros P, Grigoriadou M, Kokotas H, Agrogiannis G, Giannoulia-Karantana A, Patsouris E, Petersen MB. Konstantinidou A, et al. Prenat Diagn. 2008 Apr;28(4):309-12. doi: 10.1002/pd.1976. Prenat Diagn. 2008. PMID: 18382993

9

Primary open angle glaucoma due to T377M MYOC: Population mapping of a Greek founder mutation in Northwestern Greece.

Kitsos G, Petrou Z, Grigoriadou M, Samples JR, Hewitt AW, Kokotas H, Giannoulia-Karantana A, Mackey DA, Wirtz MK, Moschou M, Ioannidis JP, Petersen MB. Kitsos G, et al. Among authors: giannoulia karantana a. Clin Ophthalmol. 2010 Mar 24;4:171-8. doi: 10.2147/opth.s8974. Clin Ophthalmol. 2010. PMID: 20390039 Free PMC article.

10

Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population.

Bugiani M, Gyftodimou Y, Tsimpouka P, Lamantea E, Katzaki E, d'Adamo P, Nakou S, Georgoudi N, Grigoriadou M, Tsina E, Kabolis N, Milani D, Pandelia E, Kokotas H, Gasparini P, Giannoulia-Karantana A, Renieri A, Zeviani M, Petersen MB. Bugiani M, et al. Am J Med Genet A. 2008 Sep 1;146A(17):2221-6. doi: 10.1002/ajmg.a.32239. Am J Med Genet A. 2008. PMID: 18655112

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