Het Bloom-syndroom in Nederland: Klinisch overzicht van een nationaal cohort

S. M.J. Hopman; J. H.M. Merks; E. K. Bijlsma; H. Boot; A. C. Knegt; V. Langenhorst; M. H.D. Schoenaker; K. E. Stuurman; J. B.G.M. Verheij; A. Wagner; C. M. Weemaes; P. J.G. Zwijnenburg; E. Michiels; I. Kluijt

doi:10.1007/s12456-013-0178-8

Het Bloom-syndroom in Nederland: Klinisch overzicht van een nationaal cohort

S. M.J. Hopman, J. H.M. Merks, E. K. Bijlsma, H. Boot, A. C. Knegt, V. Langenhorst, M. H.D. Schoenaker, K. E. Stuurman, J. B.G.M. Verheij, A. Wagner, C. M. Weemaes, P. J.G. Zwijnenburg, E. Michiels, I. Kluijt

Onderzoeksoutput: Bijdrage aan tijdschrift › Artikel › peer review

Samenvatting

Aim. To describe the clinical and molecular genetic characteristics of Bloom syndrome (BS) patients in the Netherlands, in comparison with the international Bloom syndrome cohort as described in the Bloom's Syndrome Registry (BSR). Patients. For this study, all clinical genetic departments in the Netherlands were contacted, which identified 15 patients with Bloom syndrome. Of these patients, clinical and molecular genetic data were gathered and compared with the public available data of the BSR. Conclusions. We conclude that the prevalence of malignancies and non-insulin dependent diabetes mellitus in BS patients in the Netherlands seems to differ from patients from the BSR. We describe a malignancy (rhabdomyosarcoma) which has not previously been reported in relation to BS and report on two mutations that have not yet been described.

Vertaalde titel van de bijdrage	Bloom syndrome in the Netherlands: Clinical review of a national cohort
Originele taal-2	Nederlands
Pagina's (van-tot)	148-158
Aantal pagina's	11
Tijdschrift	Tijdschrift voor Kindergeneeskunde
Volume	81
Nummer van het tijdschrift	6
DOI's	https://doi.org/10.1007/s12456-013-0178-8
Status	Gepubliceerd - mrt. 2013
Extern gepubliceerd	Ja

Toegang tot document

10.1007/s12456-013-0178-8

Citeer dit

Hopman, S. M. J., Merks, J. H. M., Bijlsma, E. K., Boot, H., Knegt, A. C., Langenhorst, V., Schoenaker, M. H. D., Stuurman, K. E., Verheij, J. B. G. M., Wagner, A., Weemaes, C. M., Zwijnenburg, P. J. G., Michiels, E., & Kluijt, I. (2013). Het Bloom-syndroom in Nederland: Klinisch overzicht van een nationaal cohort. Tijdschrift voor Kindergeneeskunde, 81(6), 148-158. https://doi.org/10.1007/s12456-013-0178-8

@article{094f18ba102744e89237c54331feb920,

title = "Het Bloom-syndroom in Nederland: Klinisch overzicht van een nationaal cohort",

abstract = "Aim. To describe the clinical and molecular genetic characteristics of Bloom syndrome (BS) patients in the Netherlands, in comparison with the international Bloom syndrome cohort as described in the Bloom's Syndrome Registry (BSR). Patients. For this study, all clinical genetic departments in the Netherlands were contacted, which identified 15 patients with Bloom syndrome. Of these patients, clinical and molecular genetic data were gathered and compared with the public available data of the BSR. Conclusions. We conclude that the prevalence of malignancies and non-insulin dependent diabetes mellitus in BS patients in the Netherlands seems to differ from patients from the BSR. We describe a malignancy (rhabdomyosarcoma) which has not previously been reported in relation to BS and report on two mutations that have not yet been described.",

author = "Hopman, {S. M.J.} and Merks, {J. H.M.} and Bijlsma, {E. K.} and H. Boot and Knegt, {A. C.} and V. Langenhorst and Schoenaker, {M. H.D.} and Stuurman, {K. E.} and Verheij, {J. B.G.M.} and A. Wagner and Weemaes, {C. M.} and Zwijnenburg, {P. J.G.} and E. Michiels and I. Kluijt",

year = "2013",

month = mar,

doi = "10.1007/s12456-013-0178-8",

language = "Nederlands",

volume = "81",

pages = "148--158",

journal = "Tijdschrift voor Kindergeneeskunde",

issn = "0376-7442",

publisher = "Bohn Stafleu van Loghum",

number = "6",

}

Hopman, SMJ, Merks, JHM, Bijlsma, EK, Boot, H, Knegt, AC, Langenhorst, V, Schoenaker, MHD, Stuurman, KE, Verheij, JBGM, Wagner, A, Weemaes, CM, Zwijnenburg, PJG, Michiels, E & Kluijt, I 2013, 'Het Bloom-syndroom in Nederland: Klinisch overzicht van een nationaal cohort', Tijdschrift voor Kindergeneeskunde, vol. 81, nr. 6, blz. 148-158. https://doi.org/10.1007/s12456-013-0178-8

TY - JOUR

T1 - Het Bloom-syndroom in Nederland

T2 - Klinisch overzicht van een nationaal cohort

AU - Hopman, S. M.J.

AU - Merks, J. H.M.

AU - Bijlsma, E. K.

AU - Boot, H.

AU - Knegt, A. C.

AU - Langenhorst, V.

AU - Schoenaker, M. H.D.

AU - Stuurman, K. E.

AU - Verheij, J. B.G.M.

AU - Wagner, A.

AU - Weemaes, C. M.

AU - Zwijnenburg, P. J.G.

AU - Michiels, E.

AU - Kluijt, I.

PY - 2013/3

Y1 - 2013/3

N2 - Aim. To describe the clinical and molecular genetic characteristics of Bloom syndrome (BS) patients in the Netherlands, in comparison with the international Bloom syndrome cohort as described in the Bloom's Syndrome Registry (BSR). Patients. For this study, all clinical genetic departments in the Netherlands were contacted, which identified 15 patients with Bloom syndrome. Of these patients, clinical and molecular genetic data were gathered and compared with the public available data of the BSR. Conclusions. We conclude that the prevalence of malignancies and non-insulin dependent diabetes mellitus in BS patients in the Netherlands seems to differ from patients from the BSR. We describe a malignancy (rhabdomyosarcoma) which has not previously been reported in relation to BS and report on two mutations that have not yet been described.

AB - Aim. To describe the clinical and molecular genetic characteristics of Bloom syndrome (BS) patients in the Netherlands, in comparison with the international Bloom syndrome cohort as described in the Bloom's Syndrome Registry (BSR). Patients. For this study, all clinical genetic departments in the Netherlands were contacted, which identified 15 patients with Bloom syndrome. Of these patients, clinical and molecular genetic data were gathered and compared with the public available data of the BSR. Conclusions. We conclude that the prevalence of malignancies and non-insulin dependent diabetes mellitus in BS patients in the Netherlands seems to differ from patients from the BSR. We describe a malignancy (rhabdomyosarcoma) which has not previously been reported in relation to BS and report on two mutations that have not yet been described.

UR - http://www.scopus.com/inward/record.url?scp=84891775732&partnerID=8YFLogxK

U2 - 10.1007/s12456-013-0178-8

DO - 10.1007/s12456-013-0178-8

M3 - Artikel

AN - SCOPUS:84891775732

SN - 0376-7442

VL - 81

SP - 148

EP - 158

JO - Tijdschrift voor Kindergeneeskunde

JF - Tijdschrift voor Kindergeneeskunde

IS - 6

ER -

Het Bloom-syndroom in Nederland: Klinisch overzicht van een nationaal cohort

Samenvatting

Toegang tot document

Vingerafdruk

Citeer dit