Familial Pityriasis Rubra Pilaris Is Caused by Mutations in CARD14
Fuchs-Telem, Dana, Sarig, Ofer, van Steensel, Maurice A.M., Isakov, Ofer, Israeli, Shirli, Nousbeck, Janna, Richard, Katharina, Winnepenninckx, Veronique, Vernooij, Marigje, Shomron, Noam, Uitto, Jouni, Fleckman, Philip, Richard, Gabriele, Sprecher, Eli
Published in American journal of human genetics (13.07.2012)
Published in American journal of human genetics (13.07.2012)
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Journal Article
The tumor suppressor folliculin regulates AMPK-dependent metabolic transformation
Yan, Ming, Gingras, Marie-Claude, Dunlop, Elaine A, Nouët, Yann, Dupuy, Fanny, Jalali, Zahra, Possik, Elite, Coull, Barry J, Kharitidi, Dmitri, Dydensborg, Anders Bondo, Faubert, Brandon, Kamps, Miriam, Sabourin, Sylvie, Preston, Rachael S, Davies, David Mark, Roughead, Taren, Chotard, Laëtitia, van Steensel, Maurice A M, Jones, Russell, Tee, Andrew R, Pause, Arnim
Published in The Journal of clinical investigation (01.06.2014)
Published in The Journal of clinical investigation (01.06.2014)
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Journal Article
Repetitive disruptions of the nuclear envelope invoke temporary loss of cellular compartmentalization in laminopathies
De Vos, Winnok H., Houben, Frederik, Kamps, Miriam, Malhas, Ashraf, Verheyen, Fons, Cox, Juliën, Manders, Erik M.M., Verstraeten, Valerie L.R.M., van Steensel, Maurice A.M., Marcelis, Carlo L.M., van den Wijngaard, Arthur, Vaux, David J., Ramaekers, Frans C.S., Broers, Jos L.V.
Published in Human molecular genetics (01.11.2011)
Published in Human molecular genetics (01.11.2011)
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Journal Article
Gram-positive anaerobe cocci (GPAC) are underrepresented in the microbiome of filaggrin-deficient human skin
Zeeuwen, Patrick L.J.M., PhD, Ederveen, Thomas H.A., MSc, van der Krieken, Danique A., MSc, Niehues, Hanna, MSc, Boekhorst, Jos, PhD, Kezic, Sanja, PhD, Hanssen, Daniëlle A.T., MSc, Otero, Marisol E., MSc, van Vlijmen-Willems, Ivonne M.J.J., BSc, Rodijk-Olthuis, Diana, BSc, Falcone, Denise, MSc, van den Bogaard, Ellen H.J., PhD, Kamsteeg, Marijke, PhD, MD, de Koning, Heleen D., PhD, MD, Zeeuwen-Franssen, Manon E.J., PhD, MD, van Steensel, Maurice A.M., PhD, MD, Kleerebezem, Michiel, PhD, Timmerman, Harro M., PhD, van Hijum, Sacha A.F.T., PhD, Schalkwijk, Joost, PhD
Published in Journal of allergy and clinical immunology (01.04.2017)
Published in Journal of allergy and clinical immunology (01.04.2017)
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Journal Article
Acquired resistance to the Hedgehog pathway inhibitor vismodegib due to smoothened mutations in treatment of locally advanced basal cell carcinoma
Brinkhuizen, Tjinta, MD, Reinders, Marie G., MD, van Geel, Michel, MD, PhD, Hendriksen, Annelot J.L., MD, Paulussen, Aimée D.C., MD, PhD, Winnepenninckx, Véronique J., MD, PhD, Keymeulen, Kristien B., MD, PhD, Soetekouw, Patricia M.M.B., MD, PhD, van Steensel, Maurice A.M., MD, PhD, Mosterd, Klara, MD, PhD
Published in Journal of the American Academy of Dermatology (01.11.2014)
Published in Journal of the American Academy of Dermatology (01.11.2014)
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Journal Article
The effect of topical diclofenac 3% and calcitriol 3 μg/g on superficial basal cell carcinoma (sBCC) and nodular basal cell carcinoma (nBCC): A phase II, randomized controlled trial
Brinkhuizen, Tjinta, MD, Frencken, Kiki J.A., MD, Nelemans, Patty J., MD, PhD, Hoff, Marlou L.S., MD, Kelleners-Smeets, Nicole W.J., MD, PhD, Hausen, Axel zur, MD, PhD, van der Horst, Michiel P.J., MD, Rennspiess, Dorit, Winnepenninckx, Véronique J.L., MD, PhD, van Steensel, Maurice A.M., MD, PhD, Mosterd, Klara, MD, PhD
Published in Journal of the American Academy of Dermatology (01.07.2016)
Published in Journal of the American Academy of Dermatology (01.07.2016)
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Journal Article
Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene
van de Beek, Irma, Glykofridis, Iris E, Tanck, Michael W T, Luijten, Monique N H, Starink, Theo M, Balk, Jesper A, Johannesma, Paul C, Hennekam, Eric, van den Hoff, Maurice J B, Gunst, Quinn D, Gille, Johan J P, Polstra, Abeltje M, Postmus, Pieter E, van Steensel, Maurice A M, Postma, Alex V, Wolthuis, Rob M F, Menko, Fred H, Houweling, Arjan C, Waisfisz, Quinten
Published in Journal of human genetics (01.04.2023)
Published in Journal of human genetics (01.04.2023)
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Journal Article
Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis
McLean, W H Irwin, He, Chun-Di, Zhang, Xue, Wen, Yaran, Liu, Yang, Xu, Yiming, Zhao, Yiwei, Hua, Rui, Wang, Kaibo, Sun, Miao, Li, Yuanhong, Yang, Sen, Zhang, Xue-Jun, Kruse, Roland, Cichon, Sven, Betz, Regina C, Nöthen, Markus M, van Steensel, Maurice A M, van Geel, Michel, Steijlen, Peter M, Hohl, Daniel, Huber, Marcel, Dunnill, Giles S, Kennedy, Cameron, Messenger, Andrew, Munro, Colin S, Terrinoni, Alessandro, Hovnanian, Alain, Bodemer, Christine, de Prost, Yves, Paller, Amy S, Irvine, Alan D, Sinclair, Rod, Green, Jack, Shang, Dandan, Liu, Qing, Luo, Yang, Jiang, Li, Chen, Hong-Duo, Lo, Wilson H-Y
Published in Nature genetics (01.02.2009)
Published in Nature genetics (01.02.2009)
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Journal Article
A Single-Nucleotide Deletion in the POMP 5′ UTR Causes a Transcriptional Switch and Altered Epidermal Proteasome Distribution in KLICK Genodermatosis
Dahlqvist, Johanna, Klar, Joakim, Tiwari, Neha, Schuster, Jens, Törmä, Hans, Badhai, Jitendra, Pujol, Ramon, van Steensel, Maurice A.M., Brinkhuizen, Tjinta, Gijezen, Lieke, Chaves, Antonio, Tadini, Gianluca, Vahlquist, Anders, Dahl, Niklas
Published in American journal of human genetics (09.04.2010)
Published in American journal of human genetics (09.04.2010)
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Journal Article
A Homozygous Missense Mutation in TGM5 Abolishes Epidermal Transglutaminase 5 Activity and Causes Acral Peeling Skin Syndrome
Cassidy, Andrew J., van Steensel, Maurice A.M., Steijlen, Peter M., van Geel, Michel, van der Velden, Jaap, Morley, Susan M., Terrinoni, Alessandro, Melino, Gerry, Candi, Eleonora, McLean, W.H. Irwin
Published in American journal of human genetics (01.12.2005)
Published in American journal of human genetics (01.12.2005)
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Journal Article
Clinical and Pathological Features of Pachyonychia Congenita
Leachman, Sancy A., Kaspar, Roger L., Fleckman, Philip, Florell, Scott R., Smith, Frances J.D., McLean, W.H. Irwin, Lunny, Declan P., Milstone, Leonard M., van Steensel, Maurice A.M., Munro, Colin S., O'Toole, Edel A., Celebi, Julide T., Kansky, Aleksej, Lane, EBirgitte
Published in The Journal of investigative dermatology symposium proceedings (01.10.2005)
Published in The Journal of investigative dermatology symposium proceedings (01.10.2005)
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Journal Article
Novel Mutations in the BHD Gene and Absence of Loss of Heterozygosity in Fibrofolliculomas of Birt-Hogg-Dubé Patients
van Steensel, Maurice A.M., Verstraeten, Valerie L.R.M., Frank, Jorge, Kelleners-Smeets, Nicole W.J., Poblete-Gutiérrez, Pamela, Marcus-Soekarman, Dominique, Bladergroen, Reno S., Steijlen, Peter M., van Geel, Michel
Published in Journal of investigative dermatology (01.03.2007)
Published in Journal of investigative dermatology (01.03.2007)
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Journal Article
Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation
Verstraeten, Valerie L.R.M., Broers, Jos L.V., van Steensel, Maurice A.M., Zinn-Justin, Sophie, Ramaekers, Frans C.S., Steijlen, Peter M., Kamps, Miriam, Kuijpers, Helma J.H., Merckx, Diane, Smeets, Hubert J.M., Hennekam, Raoul C.M., Marcelis, Carlo L.M., van den Wijngaard, Arthur
Published in Human molecular genetics (15.08.2006)
Published in Human molecular genetics (15.08.2006)
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Journal Article
A Novel Missense Mutation in the Second Extracellular Domain of GJB2 , p.Ser183Phe, Causes a Syndrome of Focal Palmoplantar Keratoderma with Deafness
de Zwart-Storm, Eugene A, van Geel, Michel, van Neer, Pierre A.F.A, Steijlen, Peter M, Martin, Patricia E, van Steensel, Maurice A.M
Published in The American journal of pathology (01.10.2008)
Published in The American journal of pathology (01.10.2008)
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Journal Article
The Genetic Basis of Pachyonychia Congenita
Smith, Frances J.D., Liao, Haihui, Cassidy, Andrew J., Stewart, Arlene, Hamill, Kevin J., Wood, Pamela, Joval, Iris, van Steensel, Maurice A.M., Björck, Erik, Callif-Daley, Faith, Pals, Gerald, Collins, Paul, Leachman, Sancy A., Munro, Colin S., McLean, W. H. Irwin
Published in The Journal of investigative dermatology symposium proceedings (01.10.2005)
Published in The Journal of investigative dermatology symposium proceedings (01.10.2005)
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Journal Article
Conference Proceeding
The R439C mutation in LMNA causes lamin oligomerization and susceptibility to oxidative stress
Verstraeten, Valerie L.R.M., Caputo, Sandrine, Van Steensel, Maurice A.M., Duband‐Goulet, Isabelle, Zinn‐Justin, Sophie, Kamps, Miriam, Kuijpers, Helma J.H., Östlund, Cecilia, Worman, Howard J., Briedé, Jacob J., Le Dour, Caroline, Marcelis, Carlo L.M., Van Geel, Michel, Steijlen, Peter M., Van Den Wijngaard, Arthur, Ramaekers, Frans C.S., Broers, Jos L.V.
Published in Journal of cellular and molecular medicine (01.05.2009)
Published in Journal of cellular and molecular medicine (01.05.2009)
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Journal Article
Neuroendocrine carcinoma in a patient with Birt-Hogg-Dubé syndrome
van Steensel, Maurice A. M, Claessens, Tijs, Weppler, Sherry A, van Geel, Michel, Creytens, David, Vreeburg, Maaike, Wouters, Bradley
Published in Nature reviews. Urology (01.10.2010)
Published in Nature reviews. Urology (01.10.2010)
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Journal Article
A proposal for classification of entities combining vascular malformations and deregulated growth
Oduber, Charlène E.U, van der Horst, Chantal M.A.M, Sillevis Smitt, J. Henk, Smeulders, Mark J.C, Mendiratta, Vibhu, Harper, John I, van Steensel, Maurice A.M, Hennekam, Raoul C.M
Published in European journal of medical genetics (01.05.2011)
Published in European journal of medical genetics (01.05.2011)
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Journal Article
Destructive Basal Cell Carcinoma in a Patient with Basal Cell Nevus Syndrome and an Interstitial Deletion of Chromosome 9q22
Mosterd, Klara, Sommer, Anja, van Marion, Arienne, Lacko, Martin, Herbergs, Jos, De Bondt, Bert Jan, van Steensel, Maurice A.M, Kelleners-Smeets, Nicole W. J
Published in Dermatologic surgery (01.12.2009)
Published in Dermatologic surgery (01.12.2009)
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