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Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions.

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Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions. / Mautner, Viktor Felix; Kluwe, Lan; Friedrich, Reinhard; Roehl, A C; Bammert, S; Högel, J; Spöri, H; Cooper, D N; Kehrer-Sawatzki, H.

In: J MED GENET, Vol. 47, No. 9, 9, 2010, p. 623-630.

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

Harvard

Mautner, VF, Kluwe, L, Friedrich, R, Roehl, AC, Bammert, S, Högel, J, Spöri, H, Cooper, DN & Kehrer-Sawatzki, H 2010, 'Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions.', J MED GENET, vol. 47, no. 9, 9, pp. 623-630. <http://www.ncbi.nlm.nih.gov/pubmed/20543202?dopt=Citation>

APA

Mautner, V. F., Kluwe, L., Friedrich, R., Roehl, A. C., Bammert, S., Högel, J., Spöri, H., Cooper, D. N., & Kehrer-Sawatzki, H. (2010). Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions. J MED GENET, 47(9), 623-630. [9]. http://www.ncbi.nlm.nih.gov/pubmed/20543202?dopt=Citation

Vancouver

Mautner VF, Kluwe L, Friedrich R, Roehl AC, Bammert S, Högel J et al. Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions. J MED GENET. 2010;47(9):623-630. 9.

Bibtex

@article{2dd9153026c040f5871610e96d55a938,
title = "Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions.",
abstract = "Large deletions of the NF1 gene region occur in approximately 5% of patients with neurofibromatosis type-1 (NF1) and are associated with particularly severe manifestations of the disease. However, until now, the genotype-phenotype relationship has not been comprehensively studied in patients harbouring large NF1 gene deletions of comparable extent (giving rise to haploinsufficiency of the same genes).",
author = "Mautner, {Viktor Felix} and Lan Kluwe and Reinhard Friedrich and Roehl, {A C} and S Bammert and J H{\"o}gel and H Sp{\"o}ri and Cooper, {D N} and H Kehrer-Sawatzki",
year = "2010",
language = "Deutsch",
volume = "47",
pages = "623--630",
journal = "J MED GENET",
issn = "0022-2593",
publisher = "BMJ PUBLISHING GROUP",
number = "9",

}

RIS

TY - JOUR

T1 - Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions.

AU - Mautner, Viktor Felix

AU - Kluwe, Lan

AU - Friedrich, Reinhard

AU - Roehl, A C

AU - Bammert, S

AU - Högel, J

AU - Spöri, H

AU - Cooper, D N

AU - Kehrer-Sawatzki, H

PY - 2010

Y1 - 2010

N2 - Large deletions of the NF1 gene region occur in approximately 5% of patients with neurofibromatosis type-1 (NF1) and are associated with particularly severe manifestations of the disease. However, until now, the genotype-phenotype relationship has not been comprehensively studied in patients harbouring large NF1 gene deletions of comparable extent (giving rise to haploinsufficiency of the same genes).

AB - Large deletions of the NF1 gene region occur in approximately 5% of patients with neurofibromatosis type-1 (NF1) and are associated with particularly severe manifestations of the disease. However, until now, the genotype-phenotype relationship has not been comprehensively studied in patients harbouring large NF1 gene deletions of comparable extent (giving rise to haploinsufficiency of the same genes).

M3 - SCORING: Zeitschriftenaufsatz

VL - 47

SP - 623

EP - 630

JO - J MED GENET

JF - J MED GENET

SN - 0022-2593

IS - 9

M1 - 9

ER -