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51

The Gene for Hypotrichosis of Marie Unna Maps between D8S258 and D8S298: Exclusion of the hr Gene by cDNA and Genomic Sequencing

Maurice van Steensel, Frances J.D. Smith, Peter M. Steijlen, Irma Kluijt, Howard P. Stevens, Andrew Messenger, Hannie Kremer, M. Giles S. Dunnill, Cameron Kennedy, Colin S. Munro, Valerie R. Doherty,

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 525 KB

english, 1999

52

Mutations in the Transcription Factor Gene SOX18 Underlie Recessive and Dominant Forms of Hypotrichosis-Lymphedema-Telangiectasia

Alexandre Irrthum, Koenraad Devriendt, David Chitayat, Gert Matthijs, Conrad Glade, Peter M. Steijlen, Jean-Pierre Fryns, Maurice A. M. Van Steensel, Miikka Vikkula

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 486 KB

english, 2003

53

A Homozygous Missense Mutation in TGM5 Abolishes Epidermal Transglutaminase 5 Activity and Causes Acral Peeling Skin Syndrome

Andrew J. Cassidy, Maurice A.M. van Steensel, Peter M. Steijlen, Michel van Geel, Jaap van der Velden, Susan M. Morley, Alessandro Terrinoni, Gerry Melino, Eleonora Candi, W.H. Irwin McLean

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 749 KB

english, 2005

54

A Novel Missense Mutation in the Second Extracellular Domain of GJB2, p.Ser183Phe, Causes a Syndrome of Focal Palmoplantar Keratoderma with Deafness

Eugene A. de Zwart-Storm, Michel van Geel, Pierre A.F.A. van Neer, Peter M. Steijlen, Patricia E. Martin, Maurice A.M. van Steensel

Journal:

The American Journal of Pathology

Year:

2008

Language:

english

File:

PDF, 1.39 MB

english, 2008

55

Hereditary multiple cutaneous leiomyoma resulting from novel mutations in the fumarate hydratase gene

Badeloe, Sadhanna, Bladergroen, Reno S., Jonkman, Marcel F., Burrows, Nigel P., Steijlen, Peter M., Poblete-Gutiérrez, Pamela, van Steensel, Maurice A.M., van Geel, Michel, Frank, Jorge

Journal:

Journal of Dermatological Science

Year:

2008

Language:

english

File:

PDF, 928 KB

english, 2008

56

Topical treatment of ichthyoses

Fleckman, Philip, Newell, Brandon D., van Steensel, Maurice A., Yan, Albert C.

Journal:

Dermatologic Therapy

Year:

2013

Language:

english

File:

PDF, 84 KB

english, 2013

57

Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex

Pasternack, Sandra M., Refke, Melanie, Paknia, Elham, Hennies, Hans Christian, Franz, Thomas, Schäfer, Niklas, Fryer, Alan, van Steensel, Maurice, Sweeney, Elizabeth, Just, Miquel, Grimm, Clemens, Kru

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 760 KB

english, 2013

58

Cerebral lipid accumulation in Chanarin–Dorfman Syndrome

Huigen, Marleen C.D.G., van der Graaf, Marinette, Morava, Eva, Dassel, A. Carin M., van Steensel, Maurice A.M., Seyger, Marieke M.B., Wevers, Ron A., Willemsen, Michèl A.

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 619 KB

english, 2015

59

Porokeratotic Eccrine Nevus May Be Caused by Somatic Connexin26 Mutations

Easton, Jennifer A, Donnelly, Steven, Kamps, Miriam A F, Steijlen, Peter M, Martin, Patricia E, Tadini, Gianluca, Janssens, René, Happle, Rudolf, van Geel, Michel, van Steensel, Maurice A M

Journal:

The Journal of Investigative Dermatology

Year:

2012

Language:

english

File:

PDF, 12.72 MB

english, 2012

60

Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome

Wilson, Gabrielle R, Sunley, Jasmine, Smith, Katherine R, Pope, Kate, Bromhead, Catherine J, Fitzpatrick, Elizabeth, Di Rocco, Maja, van Steensel, Maurice, Coman, David J, Leventer, Richard J, Delatyc

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 702 KB

english, 2014

61

Neuroendocrine carcinoma in a patient with Birt–Hogg–Dubé syndrome

Claessens, Tijs, Weppler, Sherry A., van Geel, Michel, Creytens, David, Vreeburg, Maaike, Wouters, Bradley, van Steensel, Maurice A. M.

Journal:

Nature Reviews Urology (formerly Nature Clinical Practice Urology)

Year:

2010

Language:

english

File:

PDF, 628 KB

english, 2010

62

Connexins and skin disease: insights into the role of beta connexins in skin homeostasis

Martin, Patricia E. M., van Steensel, Maurice

Journal:

Cell and Tissue Research

Year:

2015

Language:

english

File:

PDF, 673 KB

english, 2015

63

Infantile Hemangiomas

van Steensel, Maurice A. M.

Journal:

Archives of Dermatology

Year:

2008

Language:

english

File:

PDF, 40 KB

english, 2008

64

Acrokeratoelastoidosis With Nail Dystrophy: A Coincidence or a New Entity?

van Steensel, Maurice A. M.

Journal:

Archives of Dermatology

Year:

2006

Language:

english

File:

PDF, 284 KB

english, 2006

65

UV Addiction: A Form of Opiate Dependency

van Steensel, Maurice A. M.

Journal:

Archives of Dermatology

Year:

2009

Language:

english

File:

PDF, 38 KB

english, 2009

66

Recessive Palmoplantar Keratodermas

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

Journal:

Archives of Dermatology

Year:

2008

Language:

english

File:

PDF, 48 KB

english, 2008

67

Pathogenesis-Based Therapy Reverses Cutaneous Abnormalities in an Inherited Disorder of Distal Cholesterol Metabolism

Paller, Amy S, van Steensel, Maurice A M, Rodriguez-Martín, Marina, Sorrell, Jennifer, Heath, Candrice, Crumrine, Debra, van Geel, Michel, Cabrera, Antonio Noda, Elias, Peter M

Journal:

The Journal of Investigative Dermatology

Year:

2011

Language:

english

File:

PDF, 1.68 MB

english, 2011

68

What’s new in Birt–Hogg–Dubé syndrome?

Claessens, Tijs, Vernooij, Marigje, Luijten, Monique, Coull, Barry J, van Steensel, Maurice AM

Journal:

Expert Review of Dermatology

Year:

2012

Language:

english

File:

PDF, 1.26 MB

english, 2012

69

Report of the 10th Annual International Pachyonychia Congenita Consortium Meeting

van Steensel, Maurice A M, Coulombe, Pierre A, Kaspar, Roger L, Milstone, Leonard M, McLean, Irwin W H, Roop, Dennis R, Smith, Frances J D, Sprecher, Eli, Schwartz, Mary E

Journal:

The Journal of Investigative Dermatology

Year:

2014

Language:

english

File:

PDF, 92 KB

english, 2014

70

Making the invisible visible

van Steensel, Maurice A.M.

Journal:

Seminars in Cell & Developmental Biology

Year:

2016

Language:

english

File:

PDF, 2.03 MB

english, 2016

71

Neurocutaneous Manifestations of Genetic Mosaicism

van Steensel, Maurice

Journal:

Journal of Pediatric Genetics

Year:

2015

Language:

english

File:

PDF, 1.51 MB

english, 2015

72

Novel TGM5 mutations in acral peeling skin syndrome

van der Velden, Jaap J. A. J., van Geel, Michel, Nellen, Ruud G. L., Jonkman, Marcel F., McGrath, John A., Nanda, Arti, Sprecher, Eli, van Steensel, Maurice A. M., McLean, W. H. Irwin, Cassidy, Andrew

Journal:

Experimental Dermatology

Year:

2015

Language:

english

File:

PDF, 387 KB

english, 2015

73

The Pathogenesis of Hemangiomas: A Review

Bauland, Constantijn G., van Steensel, Maurice A. M., Steijlen, Peter M., Rieu, Paul N. M. A., Spauwen, Paul H. M.

Journal:

Plastic & Reconstructive Surgery

Year:

2006

Language:

english

File:

PDF, 154 KB

english, 2006

74

Novel KRT83 and KRT86 mutations associated with monilethrix

van Steensel, Maurice, Vreeburg, Maaike, Urbina, Maria T., López, Paul, Morice-Picard, Fanny, van Geel, Michel

Journal:

Experimental Dermatology

Year:

2015

Language:

english

File:

PDF, 462 KB

english, 2015

75

Phenotypic variation in epidermolytic ichthyosis: clinical and functional evaluation of the novel p.(Met339Lys) mutation in the L12 domain of KRT1

Nellen, Ruud G. L., Nagtzaam, Ivo F., Hoogeboom, A. Jeannette M., Bladergroen, Reno S., Jonkman, Marcel F., Steijlen, Peter M., van Steensel, Maurice A. M., van Geel, Michel

Journal:

Experimental Dermatology

Year:

2015

Language:

english

File:

PDF, 330 KB

english, 2015

76

On the TRAIL to truth, or on a road to nowhere?

van Steensel, Maurice A.M.

Journal:

Experimental Dermatology

Year:

2016

Language:

english

File:

PDF, 57 KB

english, 2016

77

Do shoot the messenger: taking aim at RNA to treat genetic skin disorders

van Steensel, Maurice A.M.

Journal:

Experimental Dermatology

Year:

2016

Language:

english

File:

PDF, 85 KB

english, 2016

78

Review of familial cerebral cavernous malformations and report of seven additional families

de Vos, Ivo J. H. M., Vreeburg, Maaike, Koek, Ger H., van Steensel, Maurice A. M.

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 771 KB

english, 2016

79

Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 Associated with Darier Disease and Hailey-Hailey Disease

Nellen, Ruud G.L., Steijlen, Peter M., van Steensel, Maurice A.M., Vreeburg, Maaike, Frank, Jorge, van Geel, Michel

Journal:

Year:

2017

Language:

english

File:

PDF, 1.31 MB

english, 2017

80

A zebrafish model for Winchester syndrome

De Vos, Ivo Johannes Hendrikus Marie, Ong, Sheena Li Ming, Lim, John, Goggi, Julian, Ong, Chee Bing, Coull, Barry J., Dunn, Norris Ray, Carney, Thomas J., Van Steensel, Maurice A.M.

Journal:

Mechanisms of Development

Year:

2017

Language:

english

File:

PDF, 50 KB

english, 2017

81

CYLD mutations differentially affect splicing and mRNA decay in Brooke-Spiegler syndrome

Parren, Lizelotte J.M.T., Baron, Jens M., Joussen, Sylvia, Marquardt, Yvonne, Hanneken, Sandra, van Steensel, Maurice A.M., Steijlen, Peter M., van Geel, Michel, Frank, Jorge

Journal:

Journal of the European Academy of Dermatology and Venereology

Year:

2018

Language:

english

File:

PDF, 299 KB

english, 2018

82

FLCN and AMPK Confer Resistance to Hyperosmotic Stress via Remodeling of Glycogen Stores

Possik, Elite, Ajisebutu, Andrew, Manteghi, Sanaz, Gingras, Marie-Claude, Vijayaraghavan, Tarika, Flamand, Mathieu, Coull, Barry, Schmeisser, Kathrin, Duchaine, Thomas, van Steensel, Maurice, Hall, Da

Journal:

Year:

2015

Language:

english

File:

PDF, 4.84 MB

english, 2015

83

Cutaneous HPV23 E6 Prevents p53 Phosphorylation through Interaction with HIPK2

Muschik, Dorothea, Braspenning-Wesch, Ilona, Stockfleth, Eggert, Rösl, Frank, Hofmann, Thomas G., Nindl, Ingo, van Steensel, Maurice A.M.

Journal:

Year:

2011

Language:

english

File:

PDF, 1015 KB

english, 2011

84

Off-Label Biologic Regimens in Psoriasis: A Systematic Review of Efficacy and Safety of Dose Escalation, Reduction, and Interrupted Biologic Therapy

Brezinski, Elizabeth A., Armstrong, April W., van Steensel, Maurice A. M.

Journal:

Year:

2012

Language:

english

File:

PDF, 189 KB

english, 2012

85

Epigenetic Changes in Basal Cell Carcinoma Affect SHH and WNT Signaling Components

Brinkhuizen, Tjinta, van den Hurk, Karin, Winnepenninckx, Véronique J. L., de Hoon, Joep P., van Marion, Ariënne M., Veeck, Jürgen, van Engeland, Manon, van Steensel, Maurice A. M., Castresana, Javier

Journal:

Year:

2012

Language:

english

File:

PDF, 603 KB

english, 2012

86

Analyses of Potential Predictive Markers and Survival Data for a Response to Sunitinib in Patients with Metastatic Renal Cell Carcinoma

Dornbusch, Juana, Zacharis, Aristeidis, Meinhardt, Matthias, Erdmann, Kati, Wolff, Ingmar, Froehner, Michael, Wirth, Manfred P., Zastrow, Stefan, Fuessel, Susanne, van Steensel, Maurice AM.

Journal:

Year:

2013

Language:

english

File:

PDF, 674 KB

english, 2013

87

Topical Rapamycin as a Treatment for Fibrofolliculomas in Birt-Hogg-Dubé Syndrome: A Double-Blind Placebo-Controlled Randomized Split-Face Trial

Gijezen, Lieke M. C., Vernooij, Marigje, Martens, Herm, Oduber, Charlene E. U., Henquet, Charles J. M., Starink, Theo M., Prins, Martin H., Menko, Fred H., Nelemans, Patty J., van Steensel, Maurice A.

Journal:

Year:

2014

Language:

english

File:

PDF, 1.43 MB

english, 2014

88

In Silico Analysis of Missense Mutations in LPAR6 Reveals Abnormal Phospholipid Signaling Pathway Leading to Hypotrichosis

Raza, Syed Irfan, Muhammad, Dost, Jan, Abid, Ali, Raja Hussain, Hassan, Mubashir, Ahmad, Wasim, Rashid, Sajid, van Steensel, Maurice A. M.

Journal:

Year:

2014

Language:

english

File:

PDF, 1.65 MB

english, 2014

89

Immunohistochemical Analysis of the Mechanistic Target of Rapamycin and Hypoxia Signalling Pathways in Basal Cell Carcinoma and Trichoepithelioma

Brinkhuizen, Tjinta, Weijzen, Chantal A. H., Eben, Jonathan, Thissen, Monique R., van Marion, Ariënne M., Lohman, Björn G., Winnepenninckx, Véronique J. L., Nelemans, Patty J., van Steensel, Maurice A

Journal:

Year:

2014

Language:

english

File:

PDF, 2.10 MB

english, 2014

90

Cutaneous Epithelial Tumors Induced by Vemurafenib Involve the MAPK and Pi3KCA Pathways but Not HPV nor HPyV Viral Infection

Frouin, Eric, Guillot, Bernard, Larrieux, Marion, Tempier, Ariane, Boulle, Nathalie, Foulongne, Vincent, Girard, Céline, Costes, Valérie, Solassol, Jérome, van Steensel, Maurice A. M.

Journal:

Year:

2014

Language:

english

File:

PDF, 2.48 MB

english, 2014

91

Sun Exposure and Protection Habits in Pediatric Patients with a History of Malignancy

Levy-Shraga, Yael, Cohen, Rinat, Ben Ami, Michal, Yeshayahu, Yonatan, Temam, Vered, Modan-Moses, Dalit, van Steensel, Maurice A. M.

Journal:

Year:

2015

Language:

english

File:

PDF, 1.47 MB

english, 2015

92

Kidney cancer characteristics and genotype-phenotype-correlations in Birt-Hogg-Dubé syndrome

Sattler, Elke C., Reithmair, Marlene, Steinlein, Ortrud K., van Steensel, Maurice A.M.

Journal:

Year:

2018

Language:

english

File:

PDF, 751 KB

english, 2018

93

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

File:

PDF, 6.21 MB

2019

94

Multicentric osteolytic syndromes represent a phenotypic spectrum defined by defective collagen remodeling

de Vos, Ivo J. H. M., Wong, Arnette Shi Wei, Welting, Tim J. M., Coull, Barry J., van Steensel, Maurice A. M.

Journal:

American Journal of Medical Genetics Part A

Year:

2019

File:

PDF, 8.04 MB

2019

95

The novel zebrafish model pretzel demonstrates a central role for SH3PXD2B in defective collagen remodelling and fibrosis in Frank-Ter Haar syndrome

de Vos, Ivo J. H. M., Wong, Arnette Shi Wei, Taslim, Jason, Ong, Sheena Li Ming, Syder, Nicole C., Goggi, Julian L., Carney, Thomas J., van Steensel, Maurice A. M.

Journal:

Year:

2020

File:

PDF, 19.76 MB

2020