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Array CGH detection of a cryptic deletion in a complex chromosome rearrangementROSENBERG, Carla; KNIJNENBURG, Jeroen; DE LOURDES CHAUFFAILLE, Maria et al.Human genetics. 2005, Vol 116, Num 5, pp 390-394, issn 0340-6717, 5 p.Article

Loss of p53 partially rescues embryonic development of Palb2 knockout mice but does not foster haploinsufficiency of Palb2 in tumour suppressionBOUWMAN, Peter; DROST, Rinske; KLIJN, Christiaan et al.Journal of pathology (Print). 2011, Vol 224, Num 1, pp 10-21, issn 0022-3417, 12 p.Article

GJB2 mutations in hearing impairment : Identification of a broad clinical spectrum for improved genetic counselingFREI, Klemens; RAMSEBNER, Reinhard; LUCAS, Trevor et al.The Laryngoscope. 2005, Vol 115, Num 3, pp 461-465, issn 0023-852X, 5 p.Article

Oncogenomic analysis of mycosis fungoides reveals major differences with Sezary syndromeVAN DOOM, Remco; VAN KESTER, Marloes S; DIJKMAN, Remco et al.Blood. 2009, Vol 113, Num 1, pp 127-136, issn 0006-4971, 10 p.Article

A complex rearrangement on chromosome 22 affecting both homologues; haplo-insufficiency of the Cat eye syndrome region may have no clinical relevanceKRIEK, Marjolein; SZUHAI, Karoly; BREUNING, Martijn H et al.Human genetics. 2006, Vol 120, Num 1, pp 77-84, issn 0340-6717, 8 p.Article

Chemotherapy-resistant osteosarcoma is highly susceptible to IL-15-activated allogeneic and autologous NK cellsBUDDINGH, Emilie P; SCHILHAM, Marco W; HOGENDOORN, Pancras C. W et al.Cancer immunology and immunotherapy. 2011, Vol 60, Num 4, pp 575-586, issn 0340-7004, 12 p.Article

No Haploinsufficiency but Loss of Heterozygosity for EXT in Multiple OsteochondromasREIJNDERS, Christianne M. A; WAAIJER, Cathelijn J. F; STRINGER, Sally E et al.The American journal of pathology. 2010, Vol 177, Num 4, pp 1946-1957, issn 0002-9440, 12 p.Article

Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsyVICTORINO KREPISCHI, Ana Cristina; KNIJNENBURG, Jeroen; BERTOLA, Debora Romeo et al.Epilepsia (Copenhagen). 2010, Vol 51, Num 12, pp 2457-2460, issn 0013-9580, 4 p.Article

Human cardiomyocyte progenitor cell transplantation preserves long-term function of the infarcted mouse myocardiumSMITS, Anke M; VAN LAAKE, Linda W; DEN OUDEN, Krista et al.Cardiovascular research. 2009, Vol 83, Num 3, pp 527-535, issn 0008-6363, 9 p.Article

Cathepsin K is the principal protease in giant cell tumor of boneLINDEMAN, Jan H. N; HANEMAAIJER, Roeland; MULDER, Adri et al.The American journal of pathology. 2004, Vol 165, Num 2, pp 593-600, issn 0002-9440, 8 p.Article

Chromosome abnormalities in two patients with features of autosomal dominant robinow syndromeMAZZEU, Juliana F; KREPISCHI-SANTOS, Ana Cristina; PAVANELLO, Rita De Cassia M et al.American journal of medical genetics. Part A. 2007, Vol 143, Num 15, pp 1790-1795, issn 1552-4825, 6 p.Article

The role of EXT1 in nonhereditary osteochondroma: Identification of homozygous deletionsHAMEETMAN, Liesbeth; SZUHAI, Karoly; YAVAS, Ayse et al.Journal of the National Cancer Institute. 2007, Vol 99, Num 5, pp 396-406, issn 0027-8874, 11 p.Article

Array-based comparative genomic hybridization analysis reveals recurrent chromosomal alterations and prognostic parameters in primary cutaneous large B-cell lymphomaDIJKMAN, Remco; TENSEN, Cornelis P; VERMEER, Maarten H et al.Journal of clinical oncology. 2006, Vol 24, Num 2, pp 296-305, issn 0732-183X, 10 p.Article

Hypoparathyroidism-retardation-dysmorphism syndrome in a girl : A new variant not caused by a TBCE mutation-clinical report and reviewCOURTENS, Winnie; WUYTS, Wim; FOOT, Martin et al.American journal of medical genetics. Part A. 2006, Vol 140, Num 6, pp 611-617, issn 1552-4825, 7 p.Article

Malignant fibrous histiocytoma and fibrosarcoma of bone: a re-assessment in the light of currently employed morphological, immunohistochemical and molecular approachesROMEO, Salvatore; BOVEE, Judith V. M. G; SZUHAI, Karoly et al.Virchows Archiv. 2012, Vol 461, Num 5, pp 561-570, issn 0945-6317, 10 p.Article

A common single-nucleotide variant in T is strongly associated with chordomaPILLAY, Nischalan; PLAGNOL, Vincent; KASPERAVICIUTE, Dalia et al.Nature genetics. 2012, Vol 44, Num 11, pp 1185-1187, issn 1061-4036, 3 p.Article

Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndromePANSURIYA, Twinkal C; VAN EIJK, Ronald; WEZEL, Tom Van et al.Nature genetics. 2011, Vol 43, Num 12, pp 1256-1261, issn 1061-4036, 6 p.Article

Cutaneous Anaplastic Large Cell Lymphoma and Peripheral T-Cell Lymphoma NOS Show Distinct Chromosomal Alterations and Differential Expression of Chemokine Receptors and Apoptosis RegulatorsVAN KESTER, Marloes S; TENSEN, Cornelis P; VERMEER, Maarten H et al.Journal of investigative dermatology. 2010, Vol 130, Num 2, pp 563-575, issn 0022-202X, 13 p.Article

Aberrant Heparan Sulfate Proteoglycan Localization, Despite Normal Exostosin, in Central ChondrosarcomaSCHRAGE, Yvonne M; HAMEETMAN, Liesbeth; SZUHAI, Karoly et al.The American journal of pathology. 2009, Vol 174, Num 3, pp 979-988, issn 0002-9440, 10 p.Article

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 DiseaseHES, Frederik J; MADAN, Kamlesh; ROMBOUT-LIEM, I. Shan et al.American journal of medical genetics. Part A. 2009, Vol 149, Num 10, pp 2231-2235, issn 1552-4825, 5 p.Article

Guidelines for molecular karyotyping in constitutional genetic diagnosisVERMEESCH, Joris Robert; FIEGLER, Heike; SANLAVILLE, Damien et al.European journal of human genetics. 2007, Vol 15, Num 11, pp 1105-1114, issn 1018-4813, 10 p.Article

Peters plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferaseLESNIK OBERSTEIN, Saskia A. J; KRIEK, Marjolein; WHITE, Stefan J et al.American journal of human genetics. 2006, Vol 79, Num 3, pp 562-566, issn 0002-9297, 5 p.Article