Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development

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Standard

Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development. / Zhang, Litu; Tümer, Zeynep; Møllgård, Kjeld; Barbi, Gotthold; Rossier, Eva; Bendsen, Eske; Møller, Rikke Steensbjerre; Ullmann, Reinhard; He, Jian; Papadopoulos, Nickolas; Tommerup, Niels; Larsen, Lars Allan.

I: European Journal of Human Genetics, 2009.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Harvard

Zhang, L, Tümer, Z, Møllgård, K, Barbi, G, Rossier, E, Bendsen, E, Møller, RS, Ullmann, R, He, J, Papadopoulos, N, Tommerup, N & Larsen, LA 2009, 'Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development', European Journal of Human Genetics. https://doi.org/10.1038/ejhg.2008.269

APA

Zhang, L., Tümer, Z., Møllgård, K., Barbi, G., Rossier, E., Bendsen, E., Møller, R. S., Ullmann, R., He, J., Papadopoulos, N., Tommerup, N., & Larsen, L. A. (2009). Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development. European Journal of Human Genetics. https://doi.org/10.1038/ejhg.2008.269

Vancouver

Zhang L, Tümer Z, Møllgård K, Barbi G, Rossier E, Bendsen E o.a. Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development. European Journal of Human Genetics. 2009. https://doi.org/10.1038/ejhg.2008.269

Author

Zhang, Litu ; Tümer, Zeynep ; Møllgård, Kjeld ; Barbi, Gotthold ; Rossier, Eva ; Bendsen, Eske ; Møller, Rikke Steensbjerre ; Ullmann, Reinhard ; He, Jian ; Papadopoulos, Nickolas ; Tommerup, Niels ; Larsen, Lars Allan. / Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development. I: European Journal of Human Genetics. 2009.

Bibtex

@article{d9ee37d003e711deb05e000ea68e967b,
title = "Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development",
abstract = "The chromosome break points of the t(8;21)(q21.3;q22.12) translocation associated with acute myeloid leukemia disrupt the RUNX1 gene (also known as AML1) and the RUNX1T1 gene (also known as CBFA2T3, MTG8 and ETO) and generate a RUNX1-RUNX1T1 fusion protein. Molecular characterization of the translocation break points in a t(5;8)(q32;q21.3) patient with mild-to-moderate mental retardation and congenital heart disease revealed that one of the break points was within the RUNX1T1 gene. Analysis of RUNX1T1 expression in human embryonic and fetal tissues suggests a role of RUNX1T1 in brain and heart development and support the notion that disruption of the RUNX1T1 gene is associated with the patient's phenotype.European Journal of Human Genetics advance online publication, 28 January 2009; doi:10.1038/ejhg.2008.269.",
author = "Litu Zhang and Zeynep T{\"u}mer and Kjeld M{\o}llg{\aa}rd and Gotthold Barbi and Eva Rossier and Eske Bendsen and M{\o}ller, {Rikke Steensbjerre} and Reinhard Ullmann and Jian He and Nickolas Papadopoulos and Niels Tommerup and Larsen, {Lars Allan}",
year = "2009",
doi = "10.1038/ejhg.2008.269",
language = "English",
journal = "European Journal of Human Genetics",
issn = "1018-4813",
publisher = "nature publishing group",

}

RIS

TY - JOUR

T1 - Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development

AU - Zhang, Litu

AU - Tümer, Zeynep

AU - Møllgård, Kjeld

AU - Barbi, Gotthold

AU - Rossier, Eva

AU - Bendsen, Eske

AU - Møller, Rikke Steensbjerre

AU - Ullmann, Reinhard

AU - He, Jian

AU - Papadopoulos, Nickolas

AU - Tommerup, Niels

AU - Larsen, Lars Allan

PY - 2009

Y1 - 2009

N2 - The chromosome break points of the t(8;21)(q21.3;q22.12) translocation associated with acute myeloid leukemia disrupt the RUNX1 gene (also known as AML1) and the RUNX1T1 gene (also known as CBFA2T3, MTG8 and ETO) and generate a RUNX1-RUNX1T1 fusion protein. Molecular characterization of the translocation break points in a t(5;8)(q32;q21.3) patient with mild-to-moderate mental retardation and congenital heart disease revealed that one of the break points was within the RUNX1T1 gene. Analysis of RUNX1T1 expression in human embryonic and fetal tissues suggests a role of RUNX1T1 in brain and heart development and support the notion that disruption of the RUNX1T1 gene is associated with the patient's phenotype.European Journal of Human Genetics advance online publication, 28 January 2009; doi:10.1038/ejhg.2008.269.

AB - The chromosome break points of the t(8;21)(q21.3;q22.12) translocation associated with acute myeloid leukemia disrupt the RUNX1 gene (also known as AML1) and the RUNX1T1 gene (also known as CBFA2T3, MTG8 and ETO) and generate a RUNX1-RUNX1T1 fusion protein. Molecular characterization of the translocation break points in a t(5;8)(q32;q21.3) patient with mild-to-moderate mental retardation and congenital heart disease revealed that one of the break points was within the RUNX1T1 gene. Analysis of RUNX1T1 expression in human embryonic and fetal tissues suggests a role of RUNX1T1 in brain and heart development and support the notion that disruption of the RUNX1T1 gene is associated with the patient's phenotype.European Journal of Human Genetics advance online publication, 28 January 2009; doi:10.1038/ejhg.2008.269.

U2 - 10.1038/ejhg.2008.269

DO - 10.1038/ejhg.2008.269

M3 - Journal article

C2 - 19172993

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

SN - 1018-4813

ER -

ID: 10795326