The Danish HD Registry: a nationwide family registry of HD families in Denmark

Research output: Contribution to journal › Journal article › Research › peer-review

Standard

The Danish HD Registry : a nationwide family registry of HD families in Denmark. / Gilling, M.; Budtz-Jorgensen, E.; Boonen, S. E.; Lildballe, D.; Bojesen, A.; Hertz, J. M.; Sorensen, S. A.

In: Clinical Genetics, Vol. 92, No. 3, 2017, p. 338-341.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Gilling, M, Budtz-Jorgensen, E, Boonen, SE, Lildballe, D, Bojesen, A, Hertz, JM & Sorensen, SA 2017, 'The Danish HD Registry: a nationwide family registry of HD families in Denmark', Clinical Genetics, vol. 92, no. 3, pp. 338-341. https://doi.org/10.1111/cge.12984

APA

Gilling, M., Budtz-Jorgensen, E., Boonen, S. E., Lildballe, D., Bojesen, A., Hertz, J. M., & Sorensen, S. A. (2017). The Danish HD Registry: a nationwide family registry of HD families in Denmark. Clinical Genetics, 92(3), 338-341. https://doi.org/10.1111/cge.12984

Vancouver

Gilling M, Budtz-Jorgensen E, Boonen SE, Lildballe D, Bojesen A, Hertz JM et al. The Danish HD Registry: a nationwide family registry of HD families in Denmark. Clinical Genetics. 2017;92(3):338-341. https://doi.org/10.1111/cge.12984

Author

Gilling, M. ; Budtz-Jorgensen, E. ; Boonen, S. E. ; Lildballe, D. ; Bojesen, A. ; Hertz, J. M. ; Sorensen, S. A. / The Danish HD Registry : a nationwide family registry of HD families in Denmark. In: Clinical Genetics. 2017 ; Vol. 92, No. 3. pp. 338-341.

Bibtex

@article{f291bcc6ba7546aebe130a3bd4083340,
title = "The Danish HD Registry: a nationwide family registry of HD families in Denmark",
abstract = "The Danish Huntington's Disease Registry (DHR) is a nationwide family registry comprising 14 245 individuals from 445 Huntington's disease (HD) families of which the largest family includes 845 individuals in 8 generations. 1136 DNA and/or blood samples and 18 fibroblast cultures are stored in a local biobank. The birthplace of the oldest HD carrier in each of the 261 families of Danish origin was unevenly distributed across Denmark with a high number of families in the middle part of the peninsula Jutland and in Copenhagen, the capital. The prevalence of HD in Denmark was calculated to be 5-8:100 000. 1451 individuals in the DHR had the size of the HTT CAG repeat determined of which 975 had 36 CAG repeats or more (mean ± SD: 43,5 ± 4,8). Two unrelated individuals were compound heterozygous for alleles ≥36 CAGs, and 60 individuals from 34 independent families carried an intermediate allele.",
keywords = "Denmark, family registry, HTT, CAG repeat, Huntington's disease",
author = "M. Gilling and E. Budtz-Jorgensen and Boonen, {S. E.} and D. Lildballe and A. Bojesen and Hertz, {J. M.} and Sorensen, {S. A.}",
year = "2017",
doi = "10.1111/cge.12984",
language = "English",
volume = "92",
pages = "338--341",
journal = "Clinical Genetics",
issn = "0009-9163",
publisher = "Wiley-Blackwell",
number = "3",

}

RIS

TY - JOUR

T1 - The Danish HD Registry

T2 - a nationwide family registry of HD families in Denmark

AU - Gilling, M.

AU - Budtz-Jorgensen, E.

AU - Boonen, S. E.

AU - Lildballe, D.

AU - Bojesen, A.

AU - Hertz, J. M.

AU - Sorensen, S. A.

PY - 2017

Y1 - 2017

N2 - The Danish Huntington's Disease Registry (DHR) is a nationwide family registry comprising 14 245 individuals from 445 Huntington's disease (HD) families of which the largest family includes 845 individuals in 8 generations. 1136 DNA and/or blood samples and 18 fibroblast cultures are stored in a local biobank. The birthplace of the oldest HD carrier in each of the 261 families of Danish origin was unevenly distributed across Denmark with a high number of families in the middle part of the peninsula Jutland and in Copenhagen, the capital. The prevalence of HD in Denmark was calculated to be 5-8:100 000. 1451 individuals in the DHR had the size of the HTT CAG repeat determined of which 975 had 36 CAG repeats or more (mean ± SD: 43,5 ± 4,8). Two unrelated individuals were compound heterozygous for alleles ≥36 CAGs, and 60 individuals from 34 independent families carried an intermediate allele.

AB - The Danish Huntington's Disease Registry (DHR) is a nationwide family registry comprising 14 245 individuals from 445 Huntington's disease (HD) families of which the largest family includes 845 individuals in 8 generations. 1136 DNA and/or blood samples and 18 fibroblast cultures are stored in a local biobank. The birthplace of the oldest HD carrier in each of the 261 families of Danish origin was unevenly distributed across Denmark with a high number of families in the middle part of the peninsula Jutland and in Copenhagen, the capital. The prevalence of HD in Denmark was calculated to be 5-8:100 000. 1451 individuals in the DHR had the size of the HTT CAG repeat determined of which 975 had 36 CAG repeats or more (mean ± SD: 43,5 ± 4,8). Two unrelated individuals were compound heterozygous for alleles ≥36 CAGs, and 60 individuals from 34 independent families carried an intermediate allele.

KW - Denmark

KW - family registry

KW - HTT

KW - CAG repeat

KW - Huntington's disease

U2 - 10.1111/cge.12984

DO - 10.1111/cge.12984

M3 - Journal article

C2 - 28155235

VL - 92

SP - 338

EP - 341

JO - Clinical Genetics

JF - Clinical Genetics

SN - 0009-9163

IS - 3

ER -

ID: 183009896