Angioma serpiginosum is not caused by PORCN mutations

Por Happle, Rudolf
Publicado em 2009

Cutaneous mosaicism: right before our eyes

Por Frank, Jorge, Happle, Rudolf
Publicado em 2007

Angora hair nevus. A further case of an unusual epidermal nevus representing a hallmark of angora hair nevus syndrome.

Por Boente, María del Carmen, Asial, Raúl, Primc, Norma Beatriz, Happle, Rudolf
Publicado em 2013

Phacomatosis Cesioflammea with Cutis Marmorata-like Lesions and Unusual Extracutaneous Abnormalities: Is It a Distinct disorder?

Por Verma, Shyam B, Desai, Hitesh K, Shah, Vishal N, Happle, Rudolf
Publicado no Indian J Dermatol (2017)

Photoletter to the editor: A neurocutaneous rarity: phacomatosis pigmentokeratotica

Por Vale, Thiago Cardoso, Santos, David Márcio Barbosa, Maciel, Ricardo Oliveira, Cardoso, Francisco, Happle, Rudolf
Publicado em 2014

Targeting epidermal lipids for treatment of Mendelian disorders of cornification

Por Kiritsi, Dimitra, Schauer, Franziska, Wölfle, Ute, Valari, Manthoula, Bruckner-Tuderman, Leena, Has, Cristina, Happle, Rudolf
Publicado em 2014

A Case of Linear Porokeratosis Superimposed on Disseminated Superficial Actinic Porokeratosis

Por Löhrer, Rebecca, Neumann-Acikel, Aysegül, Eming, Rüdiger, Hartmann, Karin, Rasokat, Heinrich, Krieg, Thomas, Happle, Rudolf, Eming, Sabine
Publicado em 2010

Revertant mosaicism in a human skin fragility disorder results from slipped mispairing and mitotic recombination

Por Kiritsi, Dimitra, He, Yinghong, Pasmooij, Anna M.G., Onder, Meltem, Happle, Rudolf, Jonkman, Marcel F., Bruckner-Tuderman, Leena, Has, Cristina
Publicado em 2012

Allelic loss underlies type 2 segmental Hailey-Hailey disease, providing molecular confirmation of a novel genetic concept

Por Poblete-Gutiérrez, Pamela, Wiederholt, Tonio, König, Arne, Jugert, Frank K., Marquardt, Yvonne, Rübben, Albert, Merk, Hans F., Happle, Rudolf, Frank, Jorge
Publicado em 2004

Porokeratotic Eccrine Nevus May Be Caused by Somatic Connexin26 Mutations

Por 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
Publicado em 2012

IFAP Syndrome Is Caused by Deficiency in MBTPS2, an Intramembrane Zinc Metalloprotease Essential for Cholesterol Homeostasis and ER Stress Response

Por Oeffner, Frank, Fischer, Gayle, Happle, Rudolf, König, Arne, Betz, Regina C., Bornholdt, Dorothea, Neidel, Ulrike, del Carmen Boente, María, Redler, Silke, Romero-Gomez, Javier, Salhi, Aïcha, Vera-Casaño, Ángel, Weirich, Christian, Grzeschik, Karl-Heinz
Publicado em 2009

Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis

Por Thomas, Anna C., Zeng, Zhiqiang, Rivière, Jean-Baptiste, O’Shaughnessy, Ryan, Al-Olabi, Lara, St.-Onge, Judith, Atherton, David J., Aubert, Hélène, Bagazgoitia, Lorea, Barbarot, Sébastien, Bourrat, Emmanuelle, Chiaverini, Christine, Chong, W. Kling, Duffourd, Yannis, Glover, Mary, Groesser, Leopold, Hadj-Rabia, Smail, Hamm, Henning, Happle, Rudolf, Mushtaq, Imran, Lacour, Jean-Philippe, Waelchli, Regula, Wobser, Marion, Vabres, Pierre, Patton, E. Elizabeth, Kinsler, Veronica A.
Publicado no J Invest Dermatol (2016)