Deregulation of HIF1 and mTOR as a cause of Birt-Hogg-Dubé syndrome

Titel: The 3rd Birt-Hogg-Dubé Symposium
Auteur: Arjan Houweling, Lieke M. Gijezen, Marianne A. Jonker, Martijn B. A. Van Doorn, Rogier A. Oldenburg, Karin Y. Van Spaendonck-Zwarts, Edward M. Leter, Theo A. Van Os, Nicole C. T. Van Grieken, Elisabeth H. Jaspars, Mirjam M. De Jong, Ernie M. H. F. Bongers, Paul C. Johannesma, Pieter E. Postmus, R. Jeroen A. Van Moorselaar, Jan-Hein T. M. Van Waesberghe, Theo M. Starink, Maurice A. M. Van Steensel, Johan J. P. Gille, Fred H. Menko

Titel: FLCN-dependent regulation of HIF-2alpha

Titel: The Second Birt Hogg Dubé Symposium
Auteur: Michael S Nahorski, Anne Reiman, Derek HK Lim, Lynn Martin, Johan JP Gille, Kirsten McKay, Pauline K Rehal, H. Martijn Ploeger, Maurice van Steensel, Ian P Tomlinson, Farida Latif, Fred H Menko, Eamonn R Maher

Titel: The Inaugural Birt-Hogg-Dube ́ (BHD) Symposium
Auteur: Weppler, S.A., Claessens, T., van Geel, M, and van Steensel, M.A.M.

Titel: The Second Birt Hogg Dube ́ Symposium
Auteur: L.M.C. Gijezen, F.H. Menko, T.M. Starink, M.A.M. van Steensel

Titel: The 3rd Birt-Hogg-Dubé Symposium
Auteur: M. N. H. Luijten, T. Claessens, M. Vernooij, B. J. Coull, M. A. M. van Steensel

Titel: The 3rd Birt-Hogg-Dubé Symposium
Auteur: Andrew R. Tee, Rachael S. Preston, Andrew Philip, Tijs Claessens, Lieke Gijezen, Anders B. Dydensborg, Elaine A. Dunlop, Katy T. Harper, Tjinta Brinkhuizen, Fred H. Menko, D. Mark Davies, Stephen C. Land, Arnim Pause, Keith Baar, Maurice A.M. van Steensel

Titel: The 3rd Birt-Hogg-Dubé Symposium
Auteur: Anders Dydensborg, Rachael Preston, Ming Yan, Daina Avizonis, Sylvie Sabourin, Russel Jones, Maurice Van Steensel, Andrew R. Tee, Arnim Pause

Titel: The 3rd Birt-Hogg-Dubé Symposium
Auteur: Marigje Vernooij, M. N. H. Luijten, T. Claessens, B. J. Coull, M. A. M. van Steensel

Titel: The 2nd Birt-Hogg-Dubé Symposium
Auteur: A.C. Houweling, L.M. Gijezen, M.A. Jonker, M.B. van Doorn, R. Oldenburg, K.Y. van Spaerndonck-Zwarts, E.M. Leter, T.A. van Os, M.M de Jong, J.J. Gille, E.M. Bongers, H. M. Ploeger, M.T. Kramer, P.E Postmus, P.C. Johannesma, R.J. van Moorselaar, J.H. van Waesberghe, T.M. Starink, M.A. van Steensel, F.H. Menko

Titel: The 2nd Birt-Hogg-Dubé symposium
Auteur: Derek HK Lim, Pauline K Rehal, Michael Nahorski, Fiona Macdonald, Tijs Claessens, Michel Van Geel, Lieke Gijezen, Johan JP Gille, Sophie Giraud, Stephane Richard, Maurice van Steensel, Fred Menko, and Eamonn R Maher

Titel: The 2nd Birt-Hogg-Dubé Symposium
Auteur: Rachael S. Preston, Andrew Philp, Tijs Claesens, Elaine A. Dunlop, Lieke Gijezen, Katy T. Harper, Tjinta Brinkhuizen, D. Mark Davies, Stephen S. Land, Keith Baar, Maurice van Steensel and Andrew R. Tee

Titel: Lack of SSH1 mutations in Dutch patients with disseminated superficial actinic porokeratosis: is there really an association?
Auteur: Frank J, van Steensel MA, van Geel M
Magazine: Human Mutation

Titel: Wilms tumour as an early manifestation of hereditary leiomyomatosis and renal cell cancer.
Auteur: Sadhanna Badeloe, Karin Y. van Spaendonck-Zwarts, Maurice A.M van Steensel, Ariënne M.W. van Marion, Anthonie J. van Essen, Marcel F. Jonkman, Peter M. Steijlen, Michel van Geel, and Jorge Frank
Magazine: British Journal of Dermatology

Titel: Shprintzen-Goldberg syndrome associated with a novel missense mutation in TGFBR2
Auteur: Maurice A.M. van Steensel, Michel van Geel, Lizelotte J.M.T. Parren, Constance T.R.M. Schrander-Stumpel and Dominique Marcus-Soekarman
Magazine: Experimental Dermatology

Titel: Investigation of the Birt-Hogg-Dube tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer.
Auteur: Nahorski MS, Lim DH, Martin L, Gille JJ, McKay K, Rehal PK, Ploeger HM, van Steensel M, Tomlinson IP, Latif F, Menko FH, Maher ER.
Magazine: Journal of Medical Genetics

Titel: Molecular pathways involved in hair follicle tumor formation: all about mammalian target of rapamycin?
Auteur: M.A.M. van Steensel, S. Badeloe, M. van Geel J. Frank.
Magazine: Experimental Dermatology

Titel: Novel EBP gene mutations in Conradi-Hünermann-Happle syndrome
Auteur: Steijlen PM, van Geel M, Vreeburg M, Marcus-Soekarman D, Spaapen LJ, Castelijns FC, Willemsen M, van Steensel MA.
Magazine: British Journal of Dermatology

Titel: The Wnt signalling ligand RSPO4, causing inherited anonychia, is not mutated in a patient with congenital nail hypoplasia/aplasia with underlying skeletal defects
Auteur: Seitz CS, van Steensel M, Frank J, Senderek J, Zerres K, Hamm H, Bergmann C.
Magazine: British Journal of Dermatology

Titel: Emerging drugs in ichthyosis
Auteur: M.A.M. van Steensel
Magazine: Expert Opinion on Emerging Drugs

Titel: Loss-of-function mutations of an inhibitory upstream open reading frame in the human hairless transcript lead to a dominant form of genetic hair loss
Auteur: Yaran Wen, Yang Liu, Yiming Xu, Yiwei Zhao, Rui Hua, Kaibo Wang, Miao Sun, Yuanhong Li, Sen Yang, Xue-Jun Zhang, Roland Kruse, Sven Cichon, Regina C. Betz, Markus M. Nöthen, Maurice A. M. van Steensel, Peter M. Steijlen, Daniel Hohl, Marcel Huber, Giles S. Dunnill, Cameron Kennedy, Andrew Messenger, Colin S. Munro, Alessandro Terrinoni, Alain Hovnanian, Amy S Paller, Alan D. Irvine, Rod Sinclair, Jack Green, Leona Yip, Dandan Shang, Qing Liu, Yang Luo, Li Jiang, Hong-Duo Chen, Wilson H- Y. Lo,
Magazine: Nature Genetics

Titel: Lymphedema, cardiac septal defects, and characteristic facies: possible new case of Irons-Bianchi syndrome
Auteur: van Steensel MA, van Geel M, Schrander-Stumpel C, Steijlen PM, Veraart JC
Magazine: American Journal of Medical Genetics A

Titel: Neuroendocrine carcinoma in a patient with Birt-Hogg-Dubé syndrome.
Auteur: Claessens T, Weppler SA, van Geel M, Creytens D, Vreeburg M, Wouters B, van Steensel MA.
Magazine: Nature Reviews Urology

Titel: Paraneoplastic hypertrichosis lanuginosa acquisita: uncommon or overlooked?
Auteur: Slee PH, van der Waal RI, Schagen van Leeuwen JH, Tupker RA, Timmer R, Seldenrijk CA, van Steensel MA.
Magazine: British Journal of Dermatology

Titel: RSPO4 Is the Major Gene in Autosomal-Recessive Anonychia and Mutations Cluster in the Furin-Like Cysteine-Rich Domains of the Wnt Signaling Ligand R-spondin
Auteur: Brüchle NO, Frank J, Frank V, Senderek J, Akar A, Koc E, Rigopoulos D, van Steensel M, Zerres K, Bergmann C.
Magazine: Journal of Investigative Dermatology

Titel: Erysipelas as a sign of subclinical primary lymphedema: A prospective quantitative scintigraphic study of 40 patients with unilateral erysipelas of the leg
Auteur: R.J. Damstra, M.A.M. van Steensel, J.H.B. Boomsma, P. Nelemans, J.C.J.M. Veraart
Magazine: British Journal of Dermatology

Titel: Birt-Hogg-Dubé syndrome: diagnosis and management.
Auteur: Menko FH, van Steensel MA, Giraud S, Friis-Hansen L, Richard S, Ungari S, Nordenskjöld M, Hansen TV, Solly J, Maher ER; European BHD Consortium.
Magazine: Lancet Oncology

Titel: Chanarin-Dorfman syndrome caused by a novel splice site mutation in ABHD5.
Auteur: S. Badeloe, M. van Geel, I. Nagtzaam, M.E. Rubio-Gozalbo, R.L. Oei, P.M. Steijlen, M.A.M. van Steensel.
Magazine: British Journal of Dermatology

Titel: A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene.
Auteur: Lim DH, Rehal PK, Nahorski MS, Macdonald F, Claessens T, Van Geel M, Gijezen L, Gille JJ, Giraud S, Richard S, van Steensel M, Menko FH, Maher ER.
Magazine: Human Mutation

Titel: A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness.
Auteur: de Zwart-Storm EA, Hamm H, Stoevesandt J, Steijlen PM, Martin PE, van Geel M, van Steensel MA.
Magazine: Journal of Medical Genetics

Titel: Clinical research fellow in BHD

Titel: Oprichting European Birt-Hogg-Dubé consortium

Titel: The Regulation of Protein Synthesis by mTOR Signaling: a Potential Target for Cancer Treatment?
Auteur: S. Weppler

Titel: CANCER INTERVENTION AND SCREENING