View Author
scopus: 25123357900

Szuhai, K.

(Karoly Szuhai)


patient chromosome deletion osteochondroma desmoid analysis study region lch cells lesion mutation genomic tumours langerhans cell histiocytosis telomerase disease expression tumor htert ext 1 cd 1a cancer ext 1 gene cd 1a cells cartilage cap array probe telomere genet nonhereditary osteochondromas langerhan histiocytosi leiden university sample biopsy telomere length tumour clone leiden center netherland university figure result number lch lesions nonhereditary telomerase activity tissue thyroid table fap-associated array-cgh abnormality alteration hormone cartilage segment length hybridization activity lch biopsies szuhai k ratio chromosome 8 q staining control array cgh desmoid tumours 10.1002/ karyotype epilepsy department genomic hybridization thyroid hormone chromosome 8 mlpa analysis phenotypic effect growth john wiley




7 Most Recent Publications

Familial adenomatous polyposis-associated desmoids display significantly more genetic changes than sporadic desmoids (Article)
Robanus-Maandag, E.C. Bosch, C.A.J. Alman, B.A. Tejpar, S. Devilee, P. Fodde, R. Amini-Nik, S. Knijnenburg, J. Szuhai, K. Cervera, P. Poon, R. Eccles, D. Radice, P. Giovannini, M.
2011-09-09
Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsy (Article)
Krepischi, A.C.V. Knijnenburg, J. Bertola, D.R. Kim, C.A. Pearson, P.L. Bijlsma, E. Szuhai, K. Kok, F. Vianna-Morgante, A.M. Rosenberg, C.
2010-12-01
Multiple genomic aberrations in a patient with mental retardation and hypogonadism: 45,X/46,X,psu dic(Y) karyotype, thyroid hormone receptor beta (THRB) mutation and heterozygosity for Wilson disease (Article)
Hes, F.J. Madan, K. Rombout-Liem, I.S. Szuhai, K. Sørensen, H. Amstel, H.K.P. van Bakker, E. Visser, T.J. Smit, J.W.A. Hansson, K.B.
2009-10-01
No genomic aberrations in langerhans cell histiocytosis as assessed by diverse molecular technologies (Article)
Costa, C.E.T. da Szuhai, K. Maarten Egeler, R. Annels, N.E. Eijk, R. van Hoogeboom, M. Sciot, R. Mertens, F. Björgvinsdóttir, H. Debiec-Rychter, M. Krijger, R.R. de Hogendoorn, P.C.W.
2009-03-01
Interstitial deletion of 6q without phenotypic effect (Article)
Hansson, K.B. Szuhai, K. Knijnenburg, J. Haeringen, A. van Pater, J. de
2007-06-15
Differences in telomerase expression by the CDIa+ cells in Langerhans cell histiocytosis reflect the diverse clinical presentation of the disease (Article)
Costa, C.E.T. da Maarten Egeler, R. Hoogeboom, M. Szuhai, K. Forsyth, R.G. Niesters, M. Krijger, R.R. de Tazi, A. Hogendoom, P.C.W. Annels, N.E.
2007-06-01
The role of EXT1 in nonhereditary osteochondroma: Identification of homozygous deletions (Article)
Hameetman, L. Szuhai, K. Yavas, A. Knijnenburg, J. Duin, M. van Dekken, H. van Taminiau, A.H.M. Cleton-Jansen, A. Bovée, J.V.M.G. Hogendoorn, P.C.W.
2007-03-07