Revertant Mosaicism in Genodermatoses: Natural Gene Therapy Right before Your Eyes

por van den Akker, Peter C., Bolling, Maria C., Pasmooij, Anna M. G.
Publicado 2022

A "late-but-fitter revertant cell" explains the high frequency of revertant mosaicism in epidermolysis bullosa

por van den Akker, Peter C., Pasmooij, Anna M. G., Joenje, Hans, Hofstra, Robert M. W., te Meerman, Gerard J., Jonkman, Marcel F.
Publicado 2018

Murine type VII collagen distorts outcome in human skin graft mouse model for dystrophic epidermolysis bullosa

por Bremer, Jeroen, Kramer, Duco, Eichhorn, Daryll S., Gostyński, Antoni, Diercks, Gilles F. H., Jonkman, Marcel F., van den Akker, Peter C., Pasmooij, Anna M. G.
Publicado 2018

Hyperkeratotic hand eczema: Eczema or not?

por Politiek, Klaziena, Loman, Laura, Pas, Hendri H., Diercks, Gilles F.H., Lemmink, Henny H., Jan, Sabrina Z., van den Akker, Peter C., Bolling, Maria C., Schuttelaar, Marie L.A.
Publicado 2020

The aggressive behaviour of squamous cell carcinoma in epidermolysis bullosa: analysis of clinical outcomes and tumour characteristics in the Dutch EB Registry

por Harrs, Clara, van den Akker, Peter C., Baardman, Rosalie, Duipmans, José C., Horváth, Barbara, van Kester, Marloes S., Lemmink, Henny H., Rácz, Emoke, Bolling, Marieke C., Diercks, Gilles F.H.
Publicado 2022

Natural Exon Skipping Sets the Stage for Exon Skipping as Therapy for Dystrophic Epidermolysis Bullosa

por Bremer, Jeroen, van der Heijden, Elisabeth H., Eichhorn, Daryll S., Meijer, Rowdy, Lemmink, Henny H., Scheffer, Hans, Sinke, Richard J., Jonkman, Marcel F., Pasmooij, Anna M.G., Van den Akker, Peter C.
Publicado 2019

A translation re‐initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation

por Vermeer, Mathilde C.S.C., Al‐Shinnag, Mohammad, Silljé, Herman H.W., Gaytan, Antonio Esquivel, Murrell, Dedee F., McGaughran, Julie, Melbourne, Wei, Cowan, Timothy, van den Akker, Peter C., van Spaendonck‐Zwarts, Karin Y., van der Meer, Peter, Bolling, Maria C.
Publicado 2022

Therapeutic Prospects of Exon Skipping for Epidermolysis Bullosa

por Vermeer, Franciscus C., Bremer, Jeroen, Sietsma, Robert J., Sandilands, Aileen, Hickerson, Robyn P., Bolling, Marieke C., Pasmooij, Anna M.G., Lemmink, Henny H., Swertz, Morris A., Knoers, Nine V.A.M., van der Velde, K. Joeri, van den Akker, Peter C.
Publicado 2021

Genotype-phenotype correlations for pancreatic cancer risk in Dutch melanoma families with pathogenic CDKN2A variants

por Overbeek, Kasper A, Rodríguez-Girondo, Mar DM, Wagner, Anja, van der Stoep, Nienke, van den Akker, Peter C, Oosterwijk, Jan C, van Os, Theo A, van der Kolk, Lizet E, Vasen, Hans F A, Hes, Frederik J, Cahen, Djuna L, Bruno, Marco J, Potjer, Thomas P
Publicado 2021

Pancreatic cancer-associated gene polymorphisms in a nation-wide cohort of p16-Leiden germline mutation carriers; a case–control study

por Potjer, Thomas P, van der Stoep, Nienke, Houwing-Duistermaat, Jeanine J, Konings, Ingrid C A W, Aalfs, Cora M, van den Akker, Peter C, Ausems, Margreet G, Dommering, Charlotte J, van der Kolk, Lizet E, Maiburg, Merel C, Spruijt, Liesbeth, Wagner, Anja, Vasen, Hans F A, Hes, Frederik J
Publicado 2015

PRDM10 directs FLCN expression in a novel disorder overlapping with Birt–Hogg–Dubé syndrome and familial lipomatosis

por van de Beek, Irma, Glykofridis, Iris E, Oosterwijk, Jan C, van den Akker, Peter C, Diercks, Gilles F H, Bolling, Maria C, Waisfisz, Quinten, Mensenkamp, Arjen R, Balk, Jesper A, Zwart, Rob, Postma, Alex V, Meijers-Heijboer, Hanne E J, van Moorselaar, R Jeroen A, Wolthuis, Rob M F, Houweling, Arjan C
Publicado 2022

Loss-of-function variants in the filaggrin gene are a significant risk factor for peanut allergy

por Brown, Sara J., Asai, Yuka, Cordell, Heather J., Campbell, Linda E., Zhao, Yiwei, Liao, Haihui, Northstone, Kate, Henderson, John, Alizadehfar, Reza, Ben-Shoshan, Moshe, Morgan, Kenneth, Roberts, Graham, Masthoff, Laury J.N., Pasmans, Suzanne G.M.A., van den Akker, Peter C., Wijmenga, Cisca, Hourihane, Jonathan O’B., Palmer, Colin N.A., Lack, Gideon, Clarke, Ann, Hull, Peter R., Irvine, Alan D., McLean, W. H. Irwin
Publicado 2011

Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis

por Deelen, Patrick, van Dam, Sipko, Herkert, Johanna C., Karjalainen, Juha M., Brugge, Harm, Abbott, Kristin M., van Diemen, Cleo C., van der Zwaag, Paul A., Gerkes, Erica H., Zonneveld-Huijssoon, Evelien, Boer-Bergsma, Jelkje J., Folkertsma, Pytrik, Gillett, Tessa, van der Velde, K. Joeri, Kanninga, Roan, van den Akker, Peter C., Jan, Sabrina Z., Hoorntje, Edgar T., te Rijdt, Wouter P., Vos, Yvonne J., Jongbloed, Jan D. H., van Ravenswaaij-Arts, Conny M. A., Sinke, Richard, Sikkema-Raddatz, Birgit, Kerstjens-Frederikse, Wilhelmina S., Swertz, Morris A., Franke, Lude
Publicado 2019