Progressive Osseous Heteroplasia is not an Autosomal Dominant Trait but Reflects Superimposed Mosaicism in Different GNAS Inactivation Disorders

por Happle, Rudolf
Publicado 2021

An Early Description of a “Human Mosaic” Involving the Skin: A Story from 1945

por HAPPLE, Rudolf
Publicado 2020

An unusual Case of Segmental Hailey–Hailey Disease Developing in a 1.5-Year-Old Child: A Proposed Diagnosis

por Happle, Rudolf
Publicado 2022

Conradi-Hünermann-Happle Syndrome Misdiagnosed as Rud's Syndrome in Korea

por Lee, Haewoong, Happle, Rudolf
Publicado 2018

More about Zlotnikov, the Man Who Explained Blaschko’s Lines to be a Mosaic

por HAPPLE, Rudolf, HANEKE, Eckart
Publicado 2021

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 2017

Superimposed Segmental Manifestation of Juvenile Amyopathic Dermatomyositis in a 9-year-old Boy

por Bulur, Isil, Erdogan, Hilal Kaya, Saracoglu, Zeynep Nurhan, Happle, Rudolf, Canaz, Funda
Publicado 2017

A Family with Palmar and Plantar Hyperkeratosis: A Quiz

por JURATLI, Hazem A., JÄGLE, Sabine, HAPPLE, Rudolf, AVCI, Pinar, DIDONA, Dario, FISCHER, Judith
Publicado 2020

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 2014

Superimposed Mosaicism in the Form of Extremely Extended Segmental Plexiform Neurofibroma Caused by a Novel Pathogenic Variant in the NF1 Gene

por Veres, Klára, Bene, Judit, Hadzsiev, Kinga, Garami, Miklós, Pálla, Sára, Happle, Rudolf, Medvecz, Márta, Szalai, Zsuzsanna Zsófia
Publicado 2023

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 2010

Porokeratosis Plantaris, Palmaris et Disseminata Caused by Congenital Pathogenic Variants in the MVD Gene and Loss of Heterozygosity in Affected Skin

por JÄGLE, Sabine, JURATLI, Hazem A., HICKMAN, Geoffroy, SÜSSMUTH, Kira, BOENTE, Maria C., KOPP, Julia, KIRCHMEIER, Peter, ZIMMER, Andreas, HAPPLE, Rudolf, BOURRAT, Emmanuelle, HAMM, Henning, FISCHER, Judith
Publicado 2021

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 2012

A Six-attribute Classification of Genetic Mosaicism

por Martínez-Glez, Víctor, Tenorio, Jair, Nevado, Julián, Gordo, Gema, Rodríguez-Laguna, Lara, Feito, Marta, de Lucas, Raúl, Pérez-Jurado, Luis A., Pérez, Víctor L. Ruiz, Torrelo, Antonio, Spinner, Nancy B., Happle, Rudolf, Biesecker, Leslie G., Lapunzina, Pablo
Publicado 2020

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 2016

PTPN11 Mosaicism Causes a Spectrum of Pigmentary and Vascular Neurocutaneous Disorders and Predisposes to Melanoma

por Polubothu, Satyamaanasa, Bender, Nicole, Muthiah, Siobhan, Zecchin, Davide, Demetriou, Charalambos, Martin, Sara Barberan, Malhotra, Sony, Travnickova, Jana, Zeng, Zhiqiang, Böhm, Markus, Barbarot, Sebastien, Cottrell, Catherine, Davies, Olivia, Baselga, Eulalia, Burrows, Nigel P., Carmignac, Virginie, Diaz, Joey Santiago, Fink, Christine, Haenssle, Holger A., Happle, Rudolf, Harland, Mark, Majerowski, Jacquelyn, Vabres, Pierre, Vincent, Marie, Newton-Bishop, Julia A., Bishop, D. Tim, Siegel, Dawn, Patton, E. Elizabeth, Topf, Maya, Rajan, Neil, Drolet, Beth, Kinsler, Veronica A.
Publicado 2023