Homoplasmy of the G7444A mtDNA and heterozygosity of the GJB2 c.35delG mutations in a family with hearing loss

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Standard

Homoplasmy of the G7444A mtDNA and heterozygosity of the GJB2 c.35delG mutations in a family with hearing loss. / Kokotas, Haris; Grigoriadou, Maria; Yang, Li; Lodahl, Marianne; Rendtorff, Nanna Dahl; Gyftodimou, Yolanda; Korres, George S; Ferekidou, Elisabeth; Kandiloros, Dimitrios; Korres, Stavros; Tranebjærg, Lisbeth; Guan, Min-Xin; Petersen, Michael B; Kokotas, Haris; Grigoriadou, Maria; Li, Yang; Lodahl, Marianne; Rendtorff, Nanna Dahl; Gyftodimou, Yolanda; Korres, George S; Ferekidou, Elisabeth; Kandiloros, Dimitrios; Korres, Stavros; Tranebjærg, Lisbeth; Guan, Min-Xin; Petersen, Michael Bang.

I: International Journal of Pediatric Otorhinolaryngology, Bind 75, Nr. 1, 01.01.2011, s. 89-94.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

Harvard

Kokotas, H, Grigoriadou, M, Yang, L, Lodahl, M, Rendtorff, ND, Gyftodimou, Y, Korres, GS, Ferekidou, E, Kandiloros, D, Korres, S, Tranebjærg, L, Guan, M-X, Petersen, MB, Kokotas, H, Grigoriadou, M, Li, Y, Lodahl, M, Rendtorff, ND, Gyftodimou, Y, Korres, GS, Ferekidou, E, Kandiloros, D, Korres, S, Tranebjærg, L, Guan, M-X & Petersen, MB 2011, 'Homoplasmy of the G7444A mtDNA and heterozygosity of the GJB2 c.35delG mutations in a family with hearing loss', International Journal of Pediatric Otorhinolaryngology, bind 75, nr. 1, s. 89-94. https://doi.org/10.1016/j.ijporl.2010.10.016, https://doi.org/10.1016/j.ijporl.2010.10.016

APA

Kokotas, H., Grigoriadou, M., Yang, L., Lodahl, M., Rendtorff, N. D., Gyftodimou, Y., Korres, G. S., Ferekidou, E., Kandiloros, D., Korres, S., Tranebjærg, L., Guan, M-X., Petersen, M. B., Kokotas, H., Grigoriadou, M., Li, Y., Lodahl, M., Rendtorff, N. D., Gyftodimou, Y., ... Petersen, M. B. (2011). Homoplasmy of the G7444A mtDNA and heterozygosity of the GJB2 c.35delG mutations in a family with hearing loss. International Journal of Pediatric Otorhinolaryngology, 75(1), 89-94. https://doi.org/10.1016/j.ijporl.2010.10.016, https://doi.org/10.1016/j.ijporl.2010.10.016

Vancouver

Kokotas H, Grigoriadou M, Yang L, Lodahl M, Rendtorff ND, Gyftodimou Y o.a. Homoplasmy of the G7444A mtDNA and heterozygosity of the GJB2 c.35delG mutations in a family with hearing loss. International Journal of Pediatric Otorhinolaryngology. 2011 jan. 1;75(1):89-94. https://doi.org/10.1016/j.ijporl.2010.10.016, https://doi.org/10.1016/j.ijporl.2010.10.016

Author

Kokotas, Haris ; Grigoriadou, Maria ; Yang, Li ; Lodahl, Marianne ; Rendtorff, Nanna Dahl ; Gyftodimou, Yolanda ; Korres, George S ; Ferekidou, Elisabeth ; Kandiloros, Dimitrios ; Korres, Stavros ; Tranebjærg, Lisbeth ; Guan, Min-Xin ; Petersen, Michael B ; Kokotas, Haris ; Grigoriadou, Maria ; Li, Yang ; Lodahl, Marianne ; Rendtorff, Nanna Dahl ; Gyftodimou, Yolanda ; Korres, George S ; Ferekidou, Elisabeth ; Kandiloros, Dimitrios ; Korres, Stavros ; Tranebjærg, Lisbeth ; Guan, Min-Xin ; Petersen, Michael Bang. / Homoplasmy of the G7444A mtDNA and heterozygosity of the GJB2 c.35delG mutations in a family with hearing loss. I: International Journal of Pediatric Otorhinolaryngology. 2011 ; Bind 75, Nr. 1. s. 89-94.

Bibtex

@article{6b8c9421a5824fe48230620f95bd0683,
title = "Homoplasmy of the G7444A mtDNA and heterozygosity of the GJB2 c.35delG mutations in a family with hearing loss",
abstract = "Mitochondrial mutations have been shown to be responsible for syndromic as well as non-syndromic hearing loss. The G7444A mitochondrial DNA mutation affects COI/the precursor of tRNA(Ser(UCN)), encoding the first subunit of cytochrome oxidase. Here we report on the first Greek family with the G7444A mitochondrial DNA mutation.",
author = "Haris Kokotas and Maria Grigoriadou and Li Yang and Marianne Lodahl and Rendtorff, {Nanna Dahl} and Yolanda Gyftodimou and Korres, {George S} and Elisabeth Ferekidou and Dimitrios Kandiloros and Stavros Korres and Lisbeth Tranebj{\ae}rg and Min-Xin Guan and Petersen, {Michael B} and Haris Kokotas and Maria Grigoriadou and Yang Li and Marianne Lodahl and Rendtorff, {Nanna Dahl} and Yolanda Gyftodimou and Korres, {George S} and Elisabeth Ferekidou and Dimitrios Kandiloros and Stavros Korres and Lisbeth Tranebj{\ae}rg and Min-Xin Guan and Petersen, {Michael Bang}",
note = "Copyright {\textcopyright} 2010 Elsevier Ireland Ltd. All rights reserved.",
year = "2011",
month = jan,
day = "1",
doi = "10.1016/j.ijporl.2010.10.016",
language = "English",
volume = "75",
pages = "89--94",
journal = "International Journal of Pediatric Otorhinolaryngology Extra",
issn = "1871-4048",
publisher = "Elsevier",
number = "1",

}

RIS

TY - JOUR

T1 - Homoplasmy of the G7444A mtDNA and heterozygosity of the GJB2 c.35delG mutations in a family with hearing loss

AU - Kokotas, Haris

AU - Grigoriadou, Maria

AU - Yang, Li

AU - Lodahl, Marianne

AU - Rendtorff, Nanna Dahl

AU - Gyftodimou, Yolanda

AU - Korres, George S

AU - Ferekidou, Elisabeth

AU - Kandiloros, Dimitrios

AU - Korres, Stavros

AU - Tranebjærg, Lisbeth

AU - Guan, Min-Xin

AU - Petersen, Michael B

AU - Kokotas, Haris

AU - Grigoriadou, Maria

AU - Li, Yang

AU - Lodahl, Marianne

AU - Rendtorff, Nanna Dahl

AU - Gyftodimou, Yolanda

AU - Korres, George S

AU - Ferekidou, Elisabeth

AU - Kandiloros, Dimitrios

AU - Korres, Stavros

AU - Tranebjærg, Lisbeth

AU - Guan, Min-Xin

AU - Petersen, Michael Bang

N1 - Copyright © 2010 Elsevier Ireland Ltd. All rights reserved.

PY - 2011/1/1

Y1 - 2011/1/1

N2 - Mitochondrial mutations have been shown to be responsible for syndromic as well as non-syndromic hearing loss. The G7444A mitochondrial DNA mutation affects COI/the precursor of tRNA(Ser(UCN)), encoding the first subunit of cytochrome oxidase. Here we report on the first Greek family with the G7444A mitochondrial DNA mutation.

AB - Mitochondrial mutations have been shown to be responsible for syndromic as well as non-syndromic hearing loss. The G7444A mitochondrial DNA mutation affects COI/the precursor of tRNA(Ser(UCN)), encoding the first subunit of cytochrome oxidase. Here we report on the first Greek family with the G7444A mitochondrial DNA mutation.

U2 - 10.1016/j.ijporl.2010.10.016

DO - 10.1016/j.ijporl.2010.10.016

M3 - Journal article

C2 - 21056478

VL - 75

SP - 89

EP - 94

JO - International Journal of Pediatric Otorhinolaryngology Extra

JF - International Journal of Pediatric Otorhinolaryngology Extra

SN - 1871-4048

IS - 1

ER -

ID: 33495696