Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses

Research output: Contribution to journalJournal articleResearchpeer-review

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Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses. / Sanggaard, K.M.; Rendtorff, Nanna Dahl; Kjær, K.W.; Eiberg, Hans Rudolf Lytchoff; Johnsen, T.; Gimsing, S.; Dyrmose, J.; Nielsen, K.O.; Lage, K.; Tranebjærg, Lisbeth.

In: European Journal of Human Genetics, Vol. 15, No. 11, 2007, p. 1121-1131.

Research output: Contribution to journalJournal articleResearchpeer-review

Harvard

Sanggaard, KM, Rendtorff, ND, Kjær, KW, Eiberg, HRL, Johnsen, T, Gimsing, S, Dyrmose, J, Nielsen, KO, Lage, K & Tranebjærg, L 2007, 'Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses', European Journal of Human Genetics, vol. 15, no. 11, pp. 1121-1131.

APA

Sanggaard, K. M., Rendtorff, N. D., Kjær, K. W., Eiberg, H. R. L., Johnsen, T., Gimsing, S., Dyrmose, J., Nielsen, K. O., Lage, K., & Tranebjærg, L. (2007). Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses. European Journal of Human Genetics, 15(11), 1121-1131.

Vancouver

Sanggaard KM, Rendtorff ND, Kjær KW, Eiberg HRL, Johnsen T, Gimsing S et al. Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses. European Journal of Human Genetics. 2007;15(11):1121-1131.

Author

Sanggaard, K.M. ; Rendtorff, Nanna Dahl ; Kjær, K.W. ; Eiberg, Hans Rudolf Lytchoff ; Johnsen, T. ; Gimsing, S. ; Dyrmose, J. ; Nielsen, K.O. ; Lage, K. ; Tranebjærg, Lisbeth. / Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses. In: European Journal of Human Genetics. 2007 ; Vol. 15, No. 11. pp. 1121-1131.

Bibtex

@article{4ed3637020ec11ddbc23000ea68e967b,
title = "Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses",
abstract = "Udgivelsesdato: 2007/11",
author = "K.M. Sanggaard and Rendtorff, {Nanna Dahl} and K.W. Kj{\ae}r and Eiberg, {Hans Rudolf Lytchoff} and T. Johnsen and S. Gimsing and J. Dyrmose and K.O. Nielsen and K. Lage and Lisbeth Tranebj{\ae}rg",
year = "2007",
language = "English",
volume = "15",
pages = "1121--1131",
journal = "European Journal of Human Genetics",
issn = "1018-4813",
publisher = "nature publishing group",
number = "11",

}

RIS

TY - JOUR

T1 - Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses

AU - Sanggaard, K.M.

AU - Rendtorff, Nanna Dahl

AU - Kjær, K.W.

AU - Eiberg, Hans Rudolf Lytchoff

AU - Johnsen, T.

AU - Gimsing, S.

AU - Dyrmose, J.

AU - Nielsen, K.O.

AU - Lage, K.

AU - Tranebjærg, Lisbeth

PY - 2007

Y1 - 2007

N2 - Udgivelsesdato: 2007/11

AB - Udgivelsesdato: 2007/11

M3 - Journal article

VL - 15

SP - 1121

EP - 1131

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

SN - 1018-4813

IS - 11

ER -

ID: 4041772