Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome
van der Klift, Heleen M., Mensenkamp, Arjen R., Drost, Mark, Bik, Elsa C., Vos, Yvonne J., Gille, Hans J.J.P., Redeker, Bert E.J.W., Tiersma, Yvonne, Zonneveld, José B.M., García, Encarna Gómez, Letteboer, Tom G.W., Olderode-Berends, Maran J.W., van Hest, Liselotte P., van Os, Theo A., Verhoef, Senno, Wagner, Anja, van Asperen, Christi J., ten Broeke, Sanne W., Hes, Frederik J., de Wind, Niels, Nielsen, Maartje, Devilee, Peter, Ligtenberg, Marjolijn J.L., Wijnen, Juul T., Tops, Carli M.J.
Published in Human mutation (01.11.2016)
Published in Human mutation (01.11.2016)
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Novel Leptin Receptor Mutations Identified in Two Girls with Severe Obesity Are Associated with Increased Bone Mineral Density
Hannema, Sabine E., Wit, Jan M., Houdijk, Mieke E.C.A.M., van Haeringen, Arie, Bik, Elsa C., Verkerk, Annemieke J.M.H., Uitterlinden, André G., Kant, Sarina G., Oostdijk, Wilma, Bakker, Egbert, Delemarre-van de Waal, Henriette A., Losekoot, Monique
Published in Hormone research in paediatrics (01.01.2016)
Published in Hormone research in paediatrics (01.01.2016)
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Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses
Klift, Heleen M., Jansen, Anne M. L., Steenstraten, Niki, Bik, Elsa C., Tops, Carli M. J., Devilee, Peter, Wijnen, Juul T.
Published in Molecular genetics & genomic medicine (01.07.2015)
Published in Molecular genetics & genomic medicine (01.07.2015)
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Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of lynch syndrome patients
van der Klift, Heleen M, Tops, Carli M.J, Bik, Elsa C, Boogaard, Merel W, Borgstein, Anne-Marijke, Hansson, Kerstin B.M, Ausems, Margreet G.E.M, Garcia, Encarna Gomez, Green, Andrew, Hes, Frederik J, Izatt, Louise, van Hest, Liselotte P, Alonso, Angel M, Vriends, Annette H.J.T, Wagner, Anja, van Zelst-Stams, Wendy A.G, Vasen, Hans F.A, Morreau, Hans, Devilee, Peter, Wijnen, Juul T
Published in Human mutation (01.05.2010)
Published in Human mutation (01.05.2010)
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APC Somatic Mosaicism in a Patient with Gardner Syndrome Carrying the E1573X Mutation: Report of a Case
Filipe, Bruno, Albuquerque, Cristina, Bik, Elsa, Lage, Pedro, Rodrigues, Paula, Vossen, Rolf, Tops, Carli, Nobre Leitão, Carlos
Published in Diseases of the colon & rectum (01.08.2009)
Published in Diseases of the colon & rectum (01.08.2009)
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Genotype-phenotype correlations in 19 Dutch cases with APC gene deletions and a literature review
NIELSEN, Maartje, BIK, Elsa, HES, Frederik J, BREUNING, Martijn H, VASEN, Hans F. A, BAKKER, Egbert, TOPS, Carli M. J, WEISS, Marjan M
Published in European journal of human genetics : EJHG (01.10.2007)
Published in European journal of human genetics : EJHG (01.10.2007)
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APC Somatic Mosaicism in a Patient with Gardner Syndrome Carrying the E1573X Mutation: Report of a Case. Commentary
FILIPE, Bruno, ALBUQUERQUE, Cristina, BIK, Elsa, LAGE, Pedro, RODRIGUES, Paula, VOSSEN, Rolf, TOPS, Carli, LEITAO, Carlos Nobre, MAHMOUD, Najjia
Published in Diseases of the colon & rectum (2009)
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Published in Diseases of the colon & rectum (2009)
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Evidence for Subtelomeric Exchange of 3.3 kb Tandemly Repeated Units between Chromosomes 4q35 and 10q26: Implications for Genetic Counselling and Etiology of FSHD1
van Deutekom, Judith C. T., Bakker, Egbert, Lemmers, Richard J. L. F., van der Wielen, Michiel J. R., Bik, Elsa, Hofker, Marten H., Padberg, George W., Frants, Rune R.
Published in Human molecular genetics (01.12.1996)
Published in Human molecular genetics (01.12.1996)
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