Leukemia-associated NF1 inactivation in patients with pediatric T-ALL and AML lacking evidence for neurofibromatosis
Balgobind, Brian V., Van Vlierberghe, Pieter, van den Ouweland, Ans M.W., Beverloo, H. Berna, Terlouw-Kromosoeto, Joan N.R., van Wering, Elisabeth R., Reinhardt, Dirk, Horstmann, Martin, Kaspers, Gertjan J.L., Pieters, Rob, Zwaan, C. Michel, Van den Heuvel-Eibrink, Marry M., Meijerink, Jules P.P.
Published in Blood (15.04.2008)
Published in Blood (15.04.2008)
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The influence of SNP‐based chromosomal microarray and NIPT on the diagnostic yield in 10,000 fetuses with and without fetal ultrasound anomalies
Srebniak, Malgorzata I., Knapen, Maarten F.C.M., Polak, Marike, Joosten, Marieke, Diderich, Karin E.M., Govaerts, Lutgarde C.P., Boter, Marjan, Kromosoeto, Joan N.R., Hassel, Daniella Aloysia C.M., Huijbregts, Gido, IJcken, Wilfred F.J., Heydanus, Roger, Dijkman, Anneke, Toolenaar, Toon, Vries, Femke A.T., Knijnenburg, Jeroen, Go, Attie T.J.I., Galjaard, Robert‐Jan H., Opstal, Diane
Published in Human mutation (01.07.2017)
Published in Human mutation (01.07.2017)
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Multiplex ligation-depending probe amplification is not suitable for detection of low-grade mosaicism
VAN VEGHEL-PLANDSOEN, Monique M, WOUTERS, Cokkie H, KROMOSOETO, Joan N. R, DEN RIDDER-KLÜNNEN, Mariska C, HALLEY, Dicky J. J, VAN DEN OUWELAND, Ans M. W
Published in European journal of human genetics : EJHG (01.09.2011)
Published in European journal of human genetics : EJHG (01.09.2011)
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Identification of Familial Adenomatous Polyposis carriers among children with desmoid tumours
Kattentidt Mouravieva, Anna A, Geurts-Giele, Ina R.R, de Krijger, Ronald R, van Noesel, Max M, van de Ven, Cees P, van den Ouweland, Ans M.W, Kromosoeto, Joan N.R, Dinjens, Winand N.M, Dubbink, Hendrikus J, Smits, Ron, Wagner, Anja
Published in European journal of cancer (1990) (01.08.2012)
Published in European journal of cancer (1990) (01.08.2012)
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The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies
Diderich, Karin E. M., Romijn, Kathleen, Joosten, Marieke, Govaerts, Lutgarde C. P., Polak, Marike, Bruggenwirth, Hennie T., Wilke, Martina, Slegtenhorst, Marjon A., Bever, Yolande, Brooks, Alice S., Mancini, Grazia M. S., Laar, Ingrid M. B. H., Kromosoeto, Joan N. R., Knapen, Maarten F. C. M., Go, Attie T. J. I., Van Opstal, Diane, Hoefsloot, Lies H., Galjaard, Robert‐Jan H., Srebniak, Malgorzata I.
Published in Acta obstetricia et gynecologica Scandinavica (01.06.2021)
Published in Acta obstetricia et gynecologica Scandinavica (01.06.2021)
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The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene
Farkas, Katalin, Deák, Barbara Kocsis, Sánchez, Laura Cubells, Martínez, Ana Mercedes Victoria, Corell, Juan José Vilata, Botella, Alfredo Montoro, Benito, Goitzane Marcaida, López, Raquel Rodríguez, Vanecek, Tomas, Kazakov, Dmitry V, Kromosoeto, Joan N R, van den Ouweland, Ans M W, Varga, János, Széll, Márta, Nagy, Nikoletta
Published in BMC genetics (09.02.2016)
Published in BMC genetics (09.02.2016)
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Deletion of exons 1a-2 of BRCA1: a rather frequent pathogenic abnormality
van den Ouweland, Ans M W, Dinjens, Winand N M, Dorssers, Lambert C J, van Veghel-Plandsoen, Monique M, Brüggenwirth, Hennie T, Withagen-Hermans, Caroline J, Collée, Johanna Margriet, Joosse, Simon A, Terlouw-Kromosoeto, Joan N R, Nederlof, Petra M
Published in Genetic testing and molecular biomarkers (01.06.2009)
Published in Genetic testing and molecular biomarkers (01.06.2009)
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