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1

Familial Pityriasis Rubra Pilaris Is Caused by Mutations in CARD14

Dana Fuchs-Telem, Ofer Sarig, Maurice A.M. van Steensel, Ofer Isakov, Shirli Israeli, Janna Nousbeck, Katharina Richard, Veronique Winnepenninckx, Marigje Vernooij, Noam Shomron, Jouni Uitto, Philip F

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 1.30 MB

english, 2012

2

Gap junction diseases of the skin: novel insights from new mutations

de Zwart-Storm, Eugene A, Martin, Patricia E, van Steensel, Maurice AM

Journal:

Expert Review of Dermatology

Year:

2009

Language:

english

File:

PDF, 2.06 MB

english, 2009

3

The Growing Spectrum of Cutaneous RASopathy

van Steensel, Maurice A.M.

Journal:

The Journal of Investigative Dermatology

Year:

2016

Language:

english

File:

PDF, 118 KB

english, 2016

4

Framework nucleic acids as programmable carrier for transdermal drug delivery

Wiraja, Christian, Zhu, Ying, Lio, Daniel Chin Shiuan, Yeo, David C., Xie, Mo, Fang, Weina, Li, Qian, Zheng, Mengjia, Van Steensel, Maurice, Wang, Lihua, Fan, Chunhai, Xu, Chenjie

Journal:

Nature Communications

Year:

2019

Language:

english

File:

PDF, 6.21 MB

english, 2019

5

Paradominant inheritance, a hypothesis explaining occasional familial occurrence of sporadic syndromes

Steijlen, Peter M., van Steensel, Maurice A.M.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 60 KB

english, 1999

6

Poland anomaly: Not unilateral or bilateral but mosaic

Maurice A.M. van Steensel

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 30 KB

english, 2004

7

Some twin spots may not be twins

Maurice A.M. van Steensel

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 28 KB

english, 2005

8

Lelis Syndrome may be a manifestation of hypohidrotic ectodermal dysplasia

Maurice A.M. van Steensel, Annemarie H. van der Hout

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 88 KB

english, 2009

9

Adermatoglyphia, previously unrecognized manifestation in ADULT syndrome

Hiram Larangeira de Almeida Jr., Patrícia Caspary, Rodrigo Pereira Duquia, Rowdy Meijer, Maurice van Steensel

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 69 KB

english, 2010

10

A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi–Goutières syndrome

Charlotte A. Haaxma, Yanick J. Crow, Maurice A.M. van Steensel, Martin M.Y. Lammens, Gillian I. Rice, Marcel M. Verbeek, Michèl A.A.P. Willemsen

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 324 KB

english, 2010

11

Lack of SSH1 mutations in Dutch patients with disseminated superficial actinic porokeratosis: is there really an association?

Jorge Frank, Maurice A.M. van Steensel, Michel van Geel

Journal:

Year:

2007

Language:

english

File:

PDF, 119 KB

english, 2007

12

A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene

Derek H.K. Lim, Pauline K. Rehal, Michael S. Nahorski, Fiona Macdonald, Tijs Claessens, Michel Van Geel, Lieke Gijezen, Johan J.P. Gille, Sophie Giraud, Stephane Richard, Maurice van Steensel, Fred H.

Journal:

Year:

2010

Language:

english

File:

PDF, 285 KB

english, 2010

13

A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis-Ichthyosis-Deafness Syndrome

van Steensel, Maurice A. M., van Geel, Michel, Nahuys, Marc, Smitt, J. Henk Sillevis, Steijlen, Peter M.

Journal:

The Journal of Investigative Dermatology

Year:

2002

Language:

english

File:

PDF, 247 KB

english, 2002

14

Clouston Syndrome Can Mimic Pachyonychia Congenita

van Steensel, Maurice A.M., Jonkman, Marcel F., van Geel, Michel, Steijlen, Peter M., Irwin McLean, W.H., Smith, Frances J.D.

Journal:

The Journal of Investigative Dermatology

Year:

2003

Language:

english

File:

PDF, 922 KB

english, 2003

15

Reorganization of the nuclear lamina and cytoskeleton in adipogenesis

Valerie L. R. M. Verstraeten, Johan Renes, Frans C. S. Ramaekers, Miriam Kamps, Helma J. Kuijpers, Fons Verheyen, Martin Wabitsch, Peter M. Steijlen, Maurice A. M. van Steensel, Jos L. V. Broers

Journal:

Histochemistry and Cell Biology

Year:

2011

Language:

english

File:

PDF, 1.70 MB

english, 2011

16

Cryptic Splicing at a Non-Consensus Splice-Donor in a Patient with a Novel Mutation in the Plakophilin-1 Gene

Steijlen, Peter M., van Steensel, Maurice A. M., Jansen, Bastiaan J. H., Blokx, Willeke, van de Kerkhof, Peter C. M., Happle, Rudolf, van Geel, Michel

Journal:

The Journal of Investigative Dermatology

Year:

2004

Language:

english

File:

PDF, 1.89 MB

english, 2004

17

A Phenotype Resembling the Clouston Syndrome with Deafness Is Associated with a Novel Missense GJB2 Mutation

van Steensel, Maurice A.M., Steijlen, Peter M., Bladergroen, Reno S., Hoefsloot, Elisabeth H., van Ravenswaaij-Arts, Connie M., van Geel, Michel

Journal:

The Journal of Investigative Dermatology

Year:

2004

Language:

english

File:

PDF, 1.18 MB

english, 2004

18

Does Recessive EKV Exist?

van Steensel, Maurice A. M., van Geel, Michel

Journal:

The Journal of Investigative Dermatology

Year:

2005

Language:

english

File:

PDF, 35 KB

english, 2005

19

Lamin Processing Comes of Age

van Steensel, Maurice A M, Frank, Jorge

Journal:

The Journal of Investigative Dermatology

Year:

2005

Language:

english

File:

PDF, 38 KB

english, 2005

20

Bullous congenital ichthyosiform erythroderma of Brocq

Martina Kucharekova, Klara Mosterd, Veronique Winnepenninckx, Michel Van Geel, Anja Sommer, Maurice A. M. Van Steensel

Journal:

International Journal of Dermatology

Year:

2007

Language:

english

File:

PDF, 141 KB

english, 2007

21

Neonatal Langerhans’ cell histiocytosis: a rare and potentially life-threatening disease

Klara Mosterd, Arienne Van Marion, Maurice A. M. Van Steensel

Journal:

International Journal of Dermatology

Year:

2008

Language:

english

File:

PDF, 1.10 MB

english, 2008

22

Lymphedema–distichiasis syndrome: a distinct type of primary lymphedema caused by mutations in the FOXC2 gene

Maaike Vreeburg, Martijn V. Heitink, Robert J. Damstra, Ute Moog, Michel Van Geel, Maurice A. M. Van Steensel

Journal:

International Journal of Dermatology

Year:

2008

Language:

english

File:

PDF, 772 KB

english, 2008

23

Skin abnormalities in individuals with macrocephaly: Cowden disease from a dermatologist's point of view

Jaap J. A. J. Van Der Velden, Maaike Vreeburg, Eric E. J. Smeets, Constance T. R. M. Schrander-Stumpel, Maurice A. M. Van Steensel

Journal:

International Journal of Dermatology

Year:

2008

Language:

english

File:

PDF, 405 KB

english, 2008

24

Lymphedema in Prader–Willi syndrome

Martijn V. Heitink, Margje Sinnema, Maurice A. M. Van Steensel, Connie T. R. M. Schrander-Stumpel, Jorge Frank, Leopold M. G. Curfs

Journal:

International Journal of Dermatology

Year:

2008

Language:

english

File:

PDF, 307 KB

english, 2008

25

Letter: Destructive Basal Cell Carcinoma in a Patient with Basal Cell Nevus Syndrome and an Interstitial Deletion of Chromosome 9q22

KLARA MOSTERD, ANJA SOMMER, ARIENNE VAN MARION, MARTIN LACKO, JOS HERBERGS, BERT JAN DE BONDT, MAURICE A.M. VAN STEENSEL, NICOLE W. J. KELLENERS-SMEETS

Journal:

Dermatologic Surgery

Year:

2009

Language:

english

File:

PDF, 221 KB

english, 2009

26

Connexin mimetic peptides improve cell migration rates of human epidermal keratinocytes and dermal fibroblasts in vitro

Catherine S. Wright, Maurice A. M. Van Steensel, Malcolm B. Hodgins, Patricia E. M. Martin

Journal:

Wound Repair and Regeneration

Year:

2009

Language:

english

File:

PDF, 1.27 MB

english, 2009

27

A Case of Juvenile Bullous Pemphigoid— Successful Treatment with Diaminodiphenylsulfone and Prednisone

Karen A. Marcus, Feico J. J. Halbertsma, Maurice A. M. Van Steensel

Journal:

Pediatric Dermatology

Year:

2009

Language:

english

File:

PDF, 124 KB

english, 2009

28

Diffuse and segmental variants of cutaneous leiomyomatosis: novel mutations in the fumarate hydratase gene and review of the literature

Sadhanna Badeloe, Michel Van Geel, Maurice A. M. Van Steensel, Jesús Bastida, Juan Ferrando, Peter M. Steijlen, Jorge Frank, Pamela Poblete-Gutiérrez

Journal:

Experimental Dermatology

Year:

2006

Language:

english

File:

PDF, 321 KB

english, 2006

29

Shprintzen-Goldberg syndrome associated with a novel missense mutation in TGFBR2

Maurice A.M. Van Steensel, Michel Van Geel, Lizelotte J.M.T. Parren, Constance T.R.M. Schrander-Stumpel, Dominique Marcus-Soekarman

Journal:

Experimental Dermatology

Year:

2008

Language:

english

File:

PDF, 221 KB

english, 2008

30

Molecular pathways involved in hair follicle tumor formation: all about mammalian target of rapamycin?

Maurice A. M. Van Steensel, Michel Van Geel, Sadhanna Badeloe, Pamela Poblete-Gutiérrez, Jorge Frank

Journal:

Experimental Dermatology

Year:

2009

Language:

english

File:

PDF, 483 KB

english, 2009

31

Retinoic acid metabolism blocking agents (RAMBAs): a new paradigm in the treatment of hyperkeratotic disorders

Christel J. Verfaille, Marcel Borgers, Maurice A. M. Van Steensel

Journal:

JDDG: Journal der Deutschen Dermatologischen Gesellschaft

Year:

2008

Language:

english

File:

PDF, 658 KB

english, 2008

32

Retinoic Acid Metabolism Blocking Agents (RAMBAs): eine neue Option zur Behandlung von Verhornungsstörungen

Christel J. Verfaille, Marcel Borgers, Maurice A. M. van Steensel

Journal:

JDDG: Journal der Deutschen Dermatologischen Gesellschaft

Year:

2008

File:

PDF, 671 KB

2008

33

Functional Analysis of FLT4 Mutations Associated with Nonne–Milroy Lymphedema

Verstraeten, Valerie L R M, Holnthoner, Wolfgang, van Steensel, Maurice A M, Veraart, Joep C J M, Bladergroen, Reno S, Heckman, Caroline A, Keskitalo, Salla, Frank, Jorge, Alitalo, Kari, van Geel, Mic

Journal:

The Journal of Investigative Dermatology

Year:

2008

Language:

english

File:

PDF, 2.97 MB

english, 2008

34

A Missense Mutation in TGM5 Causes Acral Peeling Skin Syndrome in a Tunisian Family

Kharfi, Monia, El Fekih, Nadia, Ammar, Donia, Jaafoura, Habib, Schwonbeck, Susanne, van Steensel, Maurice A M, Fazaa, Bécima, Kamoun, Mohamed Ridha, Fischer, Judith

Journal:

The Journal of Investigative Dermatology

Year:

2009

Language:

english

File:

PDF, 1.98 MB

english, 2009

35

Probing the Gene eXpression Database for candidate genes

Steensel, Maurice AM van, Celli, J, van Bokhoven, J H, Brunner, H G

Journal:

European Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 199 KB

english, 1999

36

Mutation S233L in the 1B Domain of Keratin 1 Causes Epidermolytic Palmoplantar Keratoderma with “Tonotubular” Keratin

Terron-Kwiatkowski, Ana, van Steensel, Maurice A M, van Geel, Michel, Lane, E Birgitte, McLean, W H Irwin, Steijlen, Peter M

Journal:

The Journal of Investigative Dermatology

Year:

2006

Language:

english

File:

PDF, 206 KB

english, 2006

37

Monoclonal Origin of Anatomically Distinct Basal Cell Carcinomas: Is there Really Hard Evidence at Hand?

van Steensel, Maurice A M, Frank, Jorge

Journal:

The Journal of Investigative Dermatology

Year:

2006

Language:

english

File:

PDF, 245 KB

english, 2006

38

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 G

Journal:

The Journal of Investigative Dermatology

Year:

2006

Language:

english

File:

PDF, 212 KB

english, 2006

39

Loss of Heterozygosity Studies on Chromosome 12q in Disseminated Superficial Actinic Porokeratosis: Lessons to be Learned

Frank, Jorge, van Geel, Michel, van Steensel, Maurice A M

Journal:

The Journal of Investigative Dermatology

Year:

2007

Language:

english

File:

PDF, 69 KB

english, 2007

40

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 4

Brüchle, Nadina Ortiz, Frank, Jorge, Frank, Valeska, Senderek, Jan, Akar, Ahmet, Koc, Erol, Rigopoulos, Dimitris, van Steensel, Maurice, Zerres, Klaus, Bergmann, Carsten

Journal:

The Journal of Investigative Dermatology

Year:

2007

Language:

english

File:

PDF, 536 KB

english, 2007

41

A Single-Nucleotide Deletion in the POMP 5′ UTR Causes a Transcriptional Switch and Altered Epidermal Proteasome Distribution in KLICK Genodermatosis

Johanna Dahlqvist, Joakim Klar, Neha Tiwari, Jens Schuster, Hans Törmä, Jitendra Badhai, Ramon Pujol, Maurice A.M. van Steensel, Tjinta Brinkhuizen, Lieke Gijezen, Antonio Chaves, Gianluca Tadini, And

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 31 KB

english, 2010

42

A Single-Nucleotide Deletion in the POMP 5′ UTR Causes a Transcriptional Switch and Altered Epidermal Proteasome Distribution in KLICK Genodermatosis

Johanna Dahlqvist, Joakim Klar, Neha Tiwari, Jens Schuster, Hans Törmä, Jitendra Badhai, Ramon Pujol, Maurice A.M. van Steensel, Tjinta Brinkhuizen, Lieke Gijezen, Antonio Chaves, Gianluca Tadini, And

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 630 KB

english, 2010

43

Genetics and epigenetics of cutaneous malignant melanoma: A concert out of tune

Karin van den Hurk, Hanneke E.C. Niessen, Jürgen Veeck, Joost J. van den Oord, Maurice A.M. van Steensel, Axel zur Hausen, Manon van Engeland, Véronique J.L. Winnepenninckx

Journal:

Biochimica et Biophysica Acta (BBA) - Reviews on Cancer

Year:

2012

Language:

english

File:

PDF, 489 KB

english, 2012

44

The R439C mutation in LMNA causes lamin oligomerization and susceptibility to oxidative stress

Valerie L.R.M. Verstraeten, Sandrine Caputo, Maurice A.M. Van Steensel, Isabelle Duband-Goulet, Sophie Zinn-Justin, Miriam Kamps, Helma J.H. Kuijpers, Cecilia Östlund, Howard J. Worman, Jacob J. Bried

Journal:

Journal of Cellular and Molecular Medicine

Year:

2009

Language:

english

File:

PDF, 998 KB

english, 2009

45

Differential susceptibility of Cx26 mutations associated with epidermal dysplasias to peptidoglycan derived from Staphylococcus aureus and Staphylococcus epidermidis

Steven Donnelly, Grant English, Eugene A. de Zwart-Storm, Sue Lang, Maurice A. M. van Steensel, Patricia E. Martin

Journal:

Experimental Dermatology

Year:

2012

Language:

english

File:

PDF, 678 KB

english, 2012

46

Alopecia, Neurological Defects, and Endocrinopathy Syndrome Caused by Decreased Expression of RBM28, a Nucleolar Protein Associated with Ribosome Biogenesis

Janna Nousbeck, Ronen Spiegel, Akemi Ishida-Yamamoto, Margarita Indelman, Ayelet Shani-Adir, Noam Adir, Ehud Lipkin, Sivan Bercovici, Dan Geiger, Maurice A. van Steensel, Peter M. Steijlen, Reuven Ber

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 1.04 MB

english, 2008

47

Monozygotic twins discordant for vascular malformations and dysregulated growth

Charlène E.U. Oduber, Jet Bliek, Chantal M.A.M. van der Horst, Maurice A.M. van Steensel, Raoul C.M. Hennekam

Journal:

European Journal of Medical Genetics

Year:

2010

Language:

english

File:

PDF, 682 KB

english, 2010

48

A proposal for classification of entities combining vascular malformations and deregulated growth

Charlène E.U. Oduber, Chantal M.A.M. van der Horst, J. Henk Sillevis Smitt, Mark J.C. Smeulders, Vibhu Mendiratta, John I. Harper, Maurice A.M. van Steensel, Raoul C.M. Hennekam

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 1.20 MB

english, 2011

49

Birt-Hogg-Dubé syndrome: diagnosis and management

Fred H Menko, Maurice AM van Steensel, Sophie Giraud, Lennart Friis-Hansen, Stéphane Richard, Silvana Ungari, Magnus Nordenskjöld, Thomas vO Hansen, John Solly, Eamonn R Maher

Journal:

The Lancet Oncology

Year:

2009

Language:

english

File:

PDF, 653 KB

english, 2009

50

Limb Mammary Syndrome: A New Genetic Disorder with Mammary Hypoplasia, Ectrodactyly, and Other Hand/Foot Anomalies Maps to Human Chromosome 3q27

Hans van Bokhoven, Martin Jung, Arie P.T. Smits, Sylvia van Beersum, Franz Rüschendorf, Maurice van Steensel, Monique Veenstra, Joep H.A.M. Tuerlings, Edwin C.M. Mariman, Han G. Brunner, Thomas F. Wie

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 793 KB

english, 1999