Avdelningen för klinisk genetik

Organisation: avdelning

Fler filtreringsmöjligheter
  1. 2009
  2. Characterization of a Hotspot Region on Chromosome 12 for Amplification in Ring Chromosomes in Atypical Lipomatous Tumors

    Trombetta, D., Fredrik Mertens, Lonoce, A., D'Addabbo, P., Rennstam, K., Nils Mandahl & Storlazzi, C. T., 2009, I : Genes, Chromosomes and Cancer. 48, 11, s. 993-1001

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  3. Clinical and cytogenetic features of a population-based consecutive series of 285 pediatric T-cell acute lymphoblastic leukemias: Rare T-cell receptor gene rearrangements are associated with poor outcome.

    Karrman, K., Forestier, E., Heyman, M., K Andersen, M., Autio, K., Blennow, E., Borgström, G., Hans Ehrencrona, Golovleva, I., Heim, S., Heinonen, K., Hovland, R., Johannsson, J. H., Kerndrup, G., Nordgren, A., Palmqvist, L. & Bertil Johansson, 2009, I : Genes, Chromosomes and Cancer. 48, 9, s. 795-805

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  4. Clinical Variability of Waardenburg-Shah Syndrome in Patients With Proximal 13q Deletion Syndrome Including the Endothelin-B Receptor Locus

    Tuysuz, B., Collin, A., Arapoglu, M. & Suyugul, N., 2009, I : American Journal of Medical Genetics. Part A. 149A, 10, s. 2290-2295

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  5. Clonal chromosome aberrations in a sialoblastoma

    Fredrik Mertens, Wahlberg, P. & Domanski, H., 2009, I : Cancer Genetics and Cytogenetics. 189, 1, s. 68-69

    Forskningsoutput: TidskriftsbidragLetter

  6. Cytogenetic Analysis of 101 Giant Cell Tumors of Bone: Nonrandom Patterns of Telomeric Associations and Other Structural Aberrations

    Gorunova, L., Fredrik Vult von Steyern, Storlazzi, T., Bjerkehagen, B., Folleras, G., Heim, S., Nils Mandahl & Fredrik Mertens, 2009, I : Genes, Chromosomes and Cancer. 48, 7, s. 583-602

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  7. Educational priorities and current involvement in genetic practice: a survey of midwives in the Netherlands, UK and Sweden

    Benjamin, C. M., Anionwu, E. N., Ulf Kristoffersson, ten Kate, L. P., Plass, A. M. C., Nippert, I., Julian-Reynier, C., Harris, H. J., Schmidtke, J., Challen, K., Calefato, J. M., Waterman, C., Powell, E. & Harris, R., 2009, I : Midwifery. 25, 5, s. 483-499

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  8. Expression levels of HMGA2 in adipocytic tumors correlate with morphologic and cytogenetic subgroups.

    Bartuma, H., Panagopoulos, I., Collin, A., Trombetta, D., Domanski, H., Nils Mandahl & Fredrik Mertens, 2009, I : Molecular Cancer. 8, Jun 9, 36.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  9. Expression of P190 and P210 BCR/ABL1 in normal human CD34(+) cells induces similar gene expression profiles and results in a STAT5-dependent expansion of the erythroid lineage

    Marcus Järås, Johnels, P., Helena Ågerstam, Lassen, C., Rissler, M., Patrik Edén, Cammenga, J., Olofsson, T., Bjerrum, O. W., Johan Richter, Xiaolong Fan & Thoas Fioretos, 2009, I : Experimental Hematology. 37, 3, s. 367-375

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  10. False-positive prenatal diagnosis of trisomy 18 by interphase FISH: hybridization of chromosome 18 alpha-satellite probe (D18Z1) to chromosome 2.

    Collin, A., Povilas Sladkevicius & Soller, M., 2009, I : Prenatal Diagnosis. 29, s. 1279-1281

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  11. Genetic and epigenetic characterization of pediatric high hyperdiploid acute lymphoblastic leukemia

    Josef Davidsson, 2009, Lund University: Faculty of Medicine. 193 s.

    Forskningsoutput: AvhandlingDoktorsavhandling (sammanläggning)

  12. Genomic profiling of chondrosarcoma: chromosomal patterns in central and peripheral tumors.

    Hallor, K. H., Johan Staaf, Bovée, J. V. M. G., Hogendoorn, P. C. W., Cleton-Jansen, A-M., Knuutila, S., Savola, S., Niini, T., Brosjö, O., Bauer, H. C. F., Fredrik Vult von Steyern, Jonsson, K., Skorpil, M., Nils Mandahl & Fredrik Mertens, 2009, I : Clinical Cancer Research. 15, 8, s. 2685-2694

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  13. Germline and somatic NF1 mutations in sporadic and NF1-associated malignant peripheral nerve sheath tumours

    Bottillo, I., Ahiquist, T., Brekke, H., Danielsen, S. A., van den Berg, E., Fredrik Mertens, Lothe, R. A. & Dallapiccola, B., 2009, I : Journal of Pathology. 217, 5, s. 693-701

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  14. HIF-2 alpha maintains an undifferentiated state in neural crest-like human neuroblastoma tumor-initiating cells

    Alexander Pietras, Hansford, L. M., Sofie Mohlin, Bridges Baxter, E., Jonas Sjölund, David Gisselsson Nord, Rehn, M., Beckman, S., Noguera, R., Navarro, S., Cammenga, J., Fredlund, E., Kaplan, D. R. & Sven Påhlman, 2009, I : Proceedings of the National Academy of Sciences. 106, 39, s. 16805-16810

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  15. High hyperdiploid childhood acute lymphoblastic leukemia.

    Kajsa Paulsson & Bertil Johansson, 2009, I : Genes, Chromosomes and Cancer. 48, s. 637-660

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  16. High-resolution imaging of mitotic instability

    David Gisselsson Nord, 2009, I : Chromosome Research. 17, s. 109-110

    Forskningsoutput: TidskriftsbidragPublicerat konferensabstract

  17. High-resolution imaging of mitotic instability

    David Gisselsson Nord, 2009, I : Chromosome Research. 17, s. 19-20

    Forskningsoutput: TidskriftsbidragPublicerat konferensabstract

  18. Identification of p53 as a strong predictor of survival for patients with malignant peripheral nerve sheath tumors

    Brekke, H. R., Kolberg, M., Skotheim, R. I., Hall, K. S., Bjerkehagen, B., Risberg, B., Domanski, H., Nils Mandahl, Liestol, K., Smeland, S., Danielsen, H. E., Fredrik Mertens & Lothe, R. A., 2009, I : Neuro-Oncology. 11, 5, s. 514-528

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  19. ISCN (2009): Important revisions and new additions to molecular methods for copy number detection for cytogenetic analysis

    Shaffer, L. G., Campbell, L. J., Slovak, M. L., Chaabouni, M., Fukushima, Y., Harrison, C., Liehr, T., Madon, P., Nils Mandahl, Rao, K. W., Rosenberg, C., Schinzel, A., Tonnies, H. & Barber, J. C., 2009, I : Chromosome Research. 17, s. 10-11

    Forskningsoutput: TidskriftsbidragPublicerat konferensabstract

  20. Low frequency of EWSR1 rearrangements in neoplasms classified as high-risk wilms tumors.

    Ildiko Frigyesi, Möller, E., Stewénius, Y., Isaksson, M., Bras, J., Alumets, J., Ingrid Øra, Sandstedt, B. & David Gisselsson Nord, 2009, I : Pediatric Blood & Cancer. 53, s. 683-684

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  21. Low-grade fibromyxoid sarcoma is difficult to diagnose by fine needle aspiration cytology: a cytomorphological study of eight cases.

    Domanski, H., Fredrik Mertens, Panagopoulos, I. & Åkerman, M., 2009, I : Cytopathology. 20, s. 304-314

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  22. Methylation of tumour suppressor gene promoters in the presence and absence of transcriptional silencing in high hyperdiploid acute lymphoblastic leukaemia

    Kajsa Paulsson, An, Q., Moorman, A. V., Parker, H., Molloy, G., Davies, T., Griffiths, M., Ross, F. M., Irving, J., Harrison, C. J., Young, B. D. & Strefford, J. C., 2009, I : British Journal of Haematology. 144, 6, s. 838-847

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  23. Molecular Characterization Of The 12Q13.3-14.1 Recurrent Breakpoint Region On Ring Chromosomes 12 In Atypical Lipomatous Tumors

    Trombetta, D., Lonoce, A., Rennstam, K., Storlazzi, C. T. & Fredrik Mertens, 2009, I : Cellular Oncology. 31, 2, s. 113-113

    Forskningsoutput: TidskriftsbidragPublicerat konferensabstract

  24. No Genomic Aberrations in Langerhans Cell Histiocytosis as Assessed by Diverse Molecular Technologies

    da Costa, C. E. T., Szuhai, K., van Eijk, R., Hoogeboom, M., Sciot, R., Fredrik Mertens, Bjorgvinsdottir, H., Debiec-Rychter, M., de Krijger, R. R., Hogendoorn, P. C. W., Egeler, R. M. & Annels, N. E., 2009, I : Genes, Chromosomes and Cancer. 48, 3, s. 239-249

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  25. t(19;22)(q13;q12) Translocation Leading to the Novel Fusion Gene EWSRI-ZNF444 in Soft Tissue Myoepithelial Carcinoma

    Brandal, P., Panagopoulos, I., Bjerkehagen, B. & Heim, S., 2009, I : Genes, Chromosomes and Cancer. 48, 12, s. 1051-1056

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  26. t(3;21)(q22;q22) leading to truncation of the RYK gene in atypical chronic myeloid leukemia

    Micci, F., Panagopoulos, I., Haugom, L., Andersen, H. K., Tjonnfjord, G. E., Beiske, K. & Heim, S., 2009, I : Cancer Letters. 277, 2, s. 205-211

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  27. Telomere length in neuroblastoma: a prognostic factor?

    Lundberg, G., Ingrid Øra & David Gisselsson Nord, 2009, I : Chromosome Research. 17, s. 116-116

    Forskningsoutput: TidskriftsbidragPublicerat konferensabstract

  28. Telomeric associations correlate with telomere length reduction and clonal chromosome aberrations in giant cell tumor of bone.

    Samuel Gebre-Medhin, Karin Broberg Palmgren, Tord Jonson, Gorunova, L., Fredrik Vult von Steyern, Brosjö, O., Jin, Y., Gisselsson Dahlén, M., Panagopoulos, I., Nils Mandahl & Fredrik Mertens, 2009, I : Cytogenetic and Genome Research. 124, 2, s. 121-127

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  29. Testing the Children: Do Non-Genetic Health-Care Providers Differ in Their Decision to Advise Genetic Presymptomatic Testing on Minors? A Cross-Sectional Study in Five Countries in the European Union

    Plass, A. M. C., Baars, M. J. H., Cornel, M. C., Julian-Reynier, C., Nippert, I., Harris, H., Ulf Kristoffersson, Schmidtke, J., Anionwu, E. N., Benjamin, C., Challen, K., Harris, R. & ten Kate, L. P., 2009, I : Genetic Testing and Molecular Biomarkers. 13, 3, s. 367-376

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  30. The DNA methylome of pediatric acute lymphoblastic leukemia.

    Josef Davidsson, Henrik Lilljebjörn, Anna Andersson, Srinivas Veerla, Heldrup, J., Behrendtz, M., Thoas Fioretos & Bertil Johansson, 2009, I : Human Molecular Genetics. Aug 13, s. 4054-4065

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  31. The expression of pluripotency marker Oct 3/4 in prostate cancer and benign prostate hyperplasia.

    Monsef, N., Soller, M., Isaksson, M., Abrahamsson, P-A. & Panagopoulos, I., 2009, I : The Prostate. 69, s. 909-916

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  32. Translocation-related sarcomas.

    Fredrik Mertens, Antonescu, C. R., Hohenberger, P., Ladanyi, M., Modena, P., D'Incalci, M., Casali, P. G., Aglietta, M. & Thor Alvegård, 2009, I : Seminars in Oncology. 36, 4, s. 312-323

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  33. Two genetic pathways, t(1;10) and amplification of 3p11-12, in myxoinflammatory fibroblastic sarcoma, haemosiderotic fibrolipomatous tumour, and morphologically similar lesions.

    Hallor, K. H., Sciot, R., Johan Staaf, Heidenblad, M., Anders Rydholm, Bauer, H. C., Aström, K., Domanski, H., Meis, J. M., Kindblom, L-G., Panagopoulos, I., Nils Mandahl & Fredrik Mertens, 2009, I : Journal of Pathology. 217, s. 716-727

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  34. 2008
  35. An endometrial stromal sarcoma cell line with the JAZF1/PHF1 chimera

    Panagopoulos, I., Fredrik Mertens & Griffin, C. A., 2008 sep, I : Cancer Genetics and Cytogenetics. 185, 2, s. 74-77 4 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  36. An improved method for detecting and delineating genomic regions with altered gene expression in cancer

    Björn Nilsson, Johansson, M., Anders Heyden, Nelander, S. & Thoas Fioretos, 2008, I : Genome Biology. 9, 1, R13.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  37. A novel fusion 5 ' AFF3/3 ' BCL2 originated from a t(2;18)(q11.2;q21.33) translocation in follicular lymphoma

    Impera, L., Albano, F., Lo Cunsolo, C., Funes, S., Iuzzolino, P., Laveder, F., Panagopoulos, I., Rocchi, M. & Storlazzi, C. T., 2008, I : Oncogene. 27, 47, s. 6187-6190

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  38. A Novel Fusion 5'Aff3/3'Bcl2 Originated From A T(2;18)(Q11.2-Q21.33) Translocation In Follicular Lymphoma

    Impera, L., Albano, F., Lo Cunsolo, C., Funes, S., Iuzzolino, P., Laveder, F., Panagopoulos, I., Rocchi, M. & Storlazzi, C. T., 2008, I : Haematologica-The Hematology Journal. 93, s. S27-S27

    Forskningsoutput: TidskriftsbidragPublicerat konferensabstract

  39. A PCR/restriction digestion assay for the detection of the transcript variants 1 and 2 of POU5F1.

    Panagopoulos, I., Möller, E., Isaksson, M. & Fredrik Mertens, 2008, I : Genes, Chromosomes and Cancer. 47, s. 521-529

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  40. Array based genetic profiling of bone and soft tissue tumors

    Karolin Hansén Nord, 2008, Department of Clinical Genetics, Lund University. 95 s.

    Forskningsoutput: AvhandlingDoktorsavhandling (sammanläggning)

  41. Array-based genotype-phenotype correlation in a case of supernumerary ring chromosome 12

    Josef Davidsson, Collin, A., Oereberg, M. & David Gisselsson Nord, 2008, I : Clinical Genetics. 73, 1, s. 44-49

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  42. Assessing educational priorities in genetics for general practitioners and specialists in five countries: factor structure of the Genetic-Educational Priorities (Gen-EP) scale

    Calefato, J-M., Nippert, I., Harris, H. J., Ulf Kristoffersson, Schmidtke, J., Ten Kate, L. P., Anionwu, E., Benjamin, C., Challen, K., Plass, A-M., Harris, R. & Julian-Reynier, C., 2008, I : Genetics in Medicine. 10, 2, s. 99-106

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  43. Binomial mitotic segregation of MYCN-carrying double minutes in neuroblastoma illustrates the role of randomness in oncogene amplification.

    Lundberg, G., Anders Rosengren, Håkanson, U., Stewenius, H., Jin, Y., Stewénius, Y., Sven Påhlman & David Gisselsson Nord, 2008, I : PLoS ONE. 3, 8, e3099.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  44. Bone marrow ectopic expression of a non-coding RNA in childhood T-cell acute lymphoblastic leukemia with a novel t(2;11)(q11.2;p15.1) translocation

    Guastadisegni, M. C., Lonoce, A., Impera, L., Albano, F., D'Addabbo, P., Caruso, S., Vasta, I., Panagopoulos, I., Leszl, A., Basso, G., Rocchi, M. & Storlazzi, C. T., 2008, I : Molecular Cancer. 7

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift