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European Journal of Human Genetics : EJHG|March 18, 2004
A comparison of different metaphase CGH methods for the detection of cryptic chromosome aberrations of defined sizeJacqueline Schoumans, Kate Nielsen, Iben Jeppesen, et al.
Human Genetics|June 20, 2002
FISH-mapping of a 100-kb terminal 22q13 deletionBritt-Marie Anderlid, Jacqueline Schoumans, Göran Annerén, et al.
Human Mutation|April 11, 2012
Genome-wide arrays in routine diagnostics of hematological malignanciesAnnet Simons, Birgit Sikkema-Raddatz, Nicole de Leeuw, et al.
European Journal of Haematology|August 18, 2009
Characterisation of hairy cell leukaemia by tiling resolution array-based comparative genome hybridisation: a series of 13 cases and review of the literatureAnn Nordgren, Martin Corcoran, Annika Sääf, et al.
Ophthalmic Genetics|April 19, 2021
Secondary enucleated retinoblastoma with MYCN amplificationAlexandre P Moulin, Christina Stathopoulos, Fabienne Marcelli, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|March 26, 2009
Screening for copy number alterations in loci associated with autism spectrum disorders by two-color multiplex ligation-dependent probe amplificationAnna Bremer, Maibritt Giacobini, Magnus Nordenskjöld, et al.
Oncotarget|January 18, 2021
The noradrenergic profile of plasma metanephrine in neuroblastoma patients is reproduced in xenograft mice models and arise from PNMT downregulationKarim Abid, Maja Beck Popovic, Katia Balmas Bourloud, et al.
European Journal of Medical Genetics|September 24, 2005
Detection and delineation of an unusual 17p11.2 deletion by array-CGH and refinement of the Smith-Magenis syndrome minimum deletion to approximately 650 kbJacqueline Schoumans, Johan Staaf, Göran Jönsson, et al.
European Journal of Endocrinology|April 15, 2004
Thyrotoxic adenoma followed by atypical hyperthyroidism due to struma ovarii: clinical and genetic studiesAntonio Ciccarelli, Hernan Valdes-Socin, Jasmine Parma, et al.
International Journal of Oncology|February 9, 2006
Combined spectral karyotyping, comparative genomic hybridization, and in vitro apoptyping of a panel of Burkitt's lymphoma-derived B cell lines reveals an unexpected complexity of chromosomal aberrations and a recurrence of specific abnormalities in chemoresistant cell linesMaria B Karpova, Jacqueline Schoumans, Elisabeth Blennow, et al.
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