IVF and retinoblastoma revisited

Autor: Dommering, Charlotte J., van der Hout, Annemarie H., Meijers-Heijboer, Hanne, Marees, Tamara, Moll, Annette C.

Publikováno v: In Fertility and Sterility 2012 97(1):79-81

No increased susceptibility to breast cancer from combined CHEK2 1100delC genotype and the HLA class III region risk factors

Autor: de Jong, Mirjam M., Nolte, Ilja M., te Meerman, Gerard J., van der Graaf, Winette T.A., Oosterom, Elvira, Bruinenberg, Marcel, Steege, Gerrit van der, Oosterwijk, Jan C., van der Hout, Annemarie H., Boezen, H. Marike, Schaapveld, Michael, Kleibeuker, Jan H., de Vries, Elisabeth G.E.

Publikováno v: In European Journal of Cancer 2005 41(12):1819-1823

A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example

Autor: Gómez García Encarna, van Os Theo A, Hogervorst Frans B, Verhoef Senno, Gille Johan J, Dommering Charlotte J, van der Luijt Rob B, Ausems Margreet G, Ligtenberg Marjolijn, Hoogerbrugge Nicoline, van der Hout Annemarie H, Oosterwijk Jan C, van den Ouweland Ans, Oldenburg Rogier, Vreeswijk Maaike P, Mohammadi Leila, Blok Marinus J, Wijnen Juul T, Helmer Quinta, Devilee Peter, van Asperen Christi J, van Houwelingen Hans C

Publikováno v: BMC Cancer, Vol 9, Iss 1, p 211 (2009)

Abstract Background Assessment of the clinical significance of unclassified variants (UVs) identified in BRCA1 and BRCA2 is very important for genetic counselling. The analysis of co-segregation of the variant with the disease in families is a powerf

Externí odkaz: https://doaj.org/article/5b24fbcfef5549b7a65cd823ecfc9509

A post hoc study on gene panel analysis for the diagnosis of dystonia

Autor: van Egmond, Martje E., Lugtenberg, Coen H. A., Brouwer, Oebele F., Contarino, Maria Fiorella, Fung, Victor S. C., Heiner-Fokkema, M. Rebecca, van Hilten, Jacobus J., van der Hout, Annemarie H., Peall, Kathryn J., Sinke, Richard J., Roze, Emmanuel, Verschuuren-Bemelmans, Corien C., Willemsen, Michel A., Wolf, Nicole I., Tijssen, Marina A., de Koning, Tom J.

Publikováno v: van Egmond, M E, Lugtenberg, C H A, Brouwer, O F, Contarino, M F, Fung, V S C, Heiner-Fokkema, M R, van Hilten, J J, van der Hout, A H, Peall, K J, Sinke, R J, Roze, E, Verschuuren-Bemelmans, C C, Willemsen, M A, Wolf, N I, Tijssen, M A & de Koning, T J 2017, ' A Post Hoc Study on Gene Panel Analysis for the Diagnosis of Dystonia ', Movement Disorders, vol. 32, no. 4, pp. 569-575 . https://doi.org/10.1002/mds.26937
Movement Disorders, 32(4), 569-575. John Wiley and Sons Inc.
Movement Disorders, 32(4), 569-575. Wiley

Background: Genetic disorders causing dystonia show great heterogeneity. Recent studies have suggested that next-generation sequencing techniques such as gene panel analysis can be effective in diagnosing heterogeneous conditions. The objective of th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::5258730ae633f66b7bd53651f10b4cfa

Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia.

Autor: van der Hout, Annemarie H¹ a.h.van.der.hout@medgen.umcg.nl, Oudesluijs, Grétel G.^1,2, Venema, Andrea¹, Verheij, Joke B. G. M.¹, Mol, Bart G. J.¹, Rump, Patrick¹, Brunner, Han G.³, Vos, Yvonne J.¹, van Essen, Anthonie J.¹

Publikováno v: European Journal of Human Genetics. Jun2008, Vol. 16 Issue 6, p673-679. 7p. 3 Black and White Photographs, 2 Charts.