Bik E - Search Results

1

Genotype-phenotype correlations in 19 Dutch cases with APC gene deletions and a literature review.

Nielsen M, Bik E, Hes FJ, Breuning MH, Vasen HF, Bakker E, Tops CM, Weiss MM. Nielsen M, et al. Among authors: bik e. Eur J Hum Genet. 2007 Oct;15(10):1034-42. doi: 10.1038/sj.ejhg.5201871. Epub 2007 Jun 13. Eur J Hum Genet. 2007. PMID: 17568392 Review.

2

Somatic APC mosaicism: an underestimated cause of polyposis coli.

Hes FJ, Nielsen M, Bik EC, Konvalinka D, Wijnen JT, Bakker E, Vasen HF, Breuning MH, Tops CM. Hes FJ, et al. Among authors: bik ec. Gut. 2008 Jan;57(1):71-6. doi: 10.1136/gut.2006.117796. Epub 2007 Jun 29. Gut. 2008. PMID: 17604324

3

Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patients.

van der Klift HM, Tops CM, Bik EC, Boogaard MW, Borgstein AM, Hansson KB, Ausems MG, Gomez Garcia E, Green A, Hes FJ, Izatt L, van Hest LP, Alonso AM, Vriends AH, Wagner A, van Zelst-Stams WA, Vasen HF, Morreau H, Devilee P, Wijnen JT. van der Klift HM, et al. Among authors: bik ec. Hum Mutat. 2010 May;31(5):578-87. doi: 10.1002/humu.21229. Hum Mutat. 2010. PMID: 20186688

4

Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.

van der Klift HM, Mensenkamp AR, Drost M, Bik EC, Vos YJ, Gille HJ, Redeker BE, Tiersma Y, Zonneveld JB, García EG, Letteboer TG, Olderode-Berends MJ, van Hest LP, van Os TA, Verhoef S, Wagner A, van Asperen CJ, Ten Broeke SW, Hes FJ, de Wind N, Nielsen M, Devilee P, Ligtenberg MJ, Wijnen JT, Tops CM. van der Klift HM, et al. Among authors: bik ec. Hum Mutat. 2016 Nov;37(11):1162-1179. doi: 10.1002/humu.23052. Epub 2016 Aug 21. Hum Mutat. 2016. PMID: 27435373

5

Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree.

Wagner A, Hendriks Y, Meijers-Heijboer EJ, de Leeuw WJ, Morreau H, Hofstra R, Tops C, Bik E, Bröcker-Vriends AH, van Der Meer C, Lindhout D, Vasen HF, Breuning MH, Cornelisse CJ, van Krimpen C, Niermeijer MF, Zwinderman AH, Wijnen J, Fodde R. Wagner A, et al. Among authors: bik e. J Med Genet. 2001 May;38(5):318-22. doi: 10.1136/jmg.38.5.318. J Med Genet. 2001. PMID: 11333868 Free PMC article.

6

[Increased sensitivity for detection of mutations in exon 15 of the APC gene in patients with familial adenomatous polyposis].

Konvalinka D, Bik EC, Tops CM, Bakker E, Singh AR, Vrtĕl R, Santavý J. Konvalinka D, et al. Among authors: bik ec. Cas Lek Cesk. 2004;143(8):543-6. Cas Lek Cesk. 2004. PMID: 15446460 Czech.

7

Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses.

van der Klift HM, Jansen AM, van der Steenstraten N, Bik EC, Tops CM, Devilee P, Wijnen JT. van der Klift HM, et al. Mol Genet Genomic Med. 2015 Jul;3(4):327-45. doi: 10.1002/mgg3.145. Epub 2015 Apr 23. Mol Genet Genomic Med. 2015. PMID: 26247049 Free PMC article.

8

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 JC, Bakker E, Lemmers RJ, van der Wielen MJ, Bik E, Hofker MH, Padberg GW, Frants RR. van Deutekom JC, et al. Among authors: bik e. Hum Mol Genet. 1996 Dec;5(12):1997-2003. doi: 10.1093/hmg/5.12.1997. Hum Mol Genet. 1996. PMID: 8968754

9

APC somatic mosaicism in a patient with Gardner syndrome carrying the E1573X mutation: report of a case.

Filipe B, Albuquerque C, Bik E, Lage P, Rodrigues P, Vossen R, Tops C, Nobre Leitão C. Filipe B, et al. Among authors: bik e. Dis Colon Rectum. 2009 Aug;52(8):1516-20; discussion 1520-1. doi: 10.1007/DCR.0b013e3181ab810f. Dis Colon Rectum. 2009. PMID: 19617769

10

Novel Leptin Receptor Mutations Identified in Two Girls with Severe Obesity Are Associated with Increased Bone Mineral Density.

Hannema SE, Wit JM, Houdijk ME, van Haeringen A, Bik EC, Verkerk AJ, Uitterlinden AG, Kant SG, Oostdijk W, Bakker E, Delemarre-van de Waal HA, Losekoot M. Hannema SE, et al. Among authors: bik ec. Horm Res Paediatr. 2016;85(6):412-20. doi: 10.1159/000444055. Epub 2016 Mar 1. Horm Res Paediatr. 2016. PMID: 26925581 Free article.

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