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Imahorn, Elias and Aushev, Magomet and Herms, Stefan and Hoffmann, Per and Cichon, Sven and Reichelt, Julia and Itin, Peter H. and Burger, Bettina. (2020) Gene expression is stable in a complete CIB1 knockout keratinocyte model. Scientific reports, 10 (1). p. 14952.

Burger, Bettina and Ghosh, A. and Ng, Choon Khong and Piscuoglio, Salvatore and Spoerri, Iris and Itin, Peter H. and Greer, K. and Elbaum, David. (2020) Discovery of heterozygous KRT10 alterations in MAUIE cases underlines the importance of regular skin cancer screening in ichthyosis with confetti. British Journal of Dermatology, 183 (5). pp. 954-955.

Burgener, Anne-Valérie and Bantug, Glenn R. and Meyer, Benedikt J. and Higgins, Rebecca and Ghosh, Adhideb and Bignucolo, Olivier and Ma, Eric H. and Loeliger, Jordan and Unterstab, Gunhild and Geigges, Marco and Steiner, Rebekah and Enamorado, Michel and Ivanek, Robert and Hunziker, Danielle and Schmidt, Alexander and Müller-Durovic, Bojana and Grählert, Jasmin and Epple, Raja and Dimeloe, Sarah and Lötscher, Jonas and Sauder, Ursula and Ebnöther, Monika and Burger, Bettina and Heijnen, Ingmar and Martínez-Cano, Sarai and Cantoni, Nathan and Brücker, Rolf and Kahlert, Christian R. and Sancho, David and Jones, Russell G. and Navarini, Alexander and Recher, Mike and Hess, Christoph. (2019) SDHA gain-of-function engages inflammatory mitochondrial retrograde signaling via KEAP1-Nrf2. Nature Immunology, 20 (10). pp. 1311-1321.

Renz, Patricia and Imahorn, Elias and Spoerri, Iris and Aushev, Magomet and March, Oliver P. and Wariwoda, Hedwig and Von Arb, Sarah and Volz, Andreas and Itin, Peter H. and Reichelt, Julia and Burger, Bettina. (2019) Arginine- but not alanine-rich carboxy-termini trigger nuclear translocation of mutant keratin 10 in ichthyosis with confetti. Journal of cellular and molecular medicine, 23 (12). pp. 8442-8452.

Burger, Bettina and Spoerri, Iris and Imahorn, Elias and Wariwoda, Hedwig and Leeb, T. and Itin, Peter H.. (2019) Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: intrafamilial overlap of phenotypes in patients with the same KRT14 frameshift variant. British Journal of Dermatology, 181 (4). pp. 864-866.

Spoerri, Iris and Herms, Stefan and Eytan, O. and Sarig, Ofer and Heinimann, Karl and Sprecher, E. and Itin, Peter H. and Burger, Bettina. (2018) Immune-regulatory genes as possible modifiers of familial pityriasis rubra pilaris - Lessons from a family with PRP and psoriasis. Journal of the European Academy of Dermatology and Venereology : JEADV, 32 (10). e389-e392.

de Jong, Sarah Jill and Créquer, Amandine and Matos, Irina and Hum, David and Gunasekharan, Vignesh and Lorenzo, Lazaro and Jabot-Hanin, Fabienne and Imahorn, Elias and Arias, Andres A. and Vahidnezhad, Hassan and Youssefian, Leila and Markle, Janet G. and Patin, Etienne and D'Amico, Aurelia and Wang, Claire Q. F. and Full, Florian and Ensser, Armin and Leisner, Tina M. and Parise, Leslie V. and Bouaziz, Matthieu and Maya, Nataly Portilla and Cadena, Xavier Rueda and Saka, Bayaki and Saeidian, Amir Hossein and Aghazadeh, Nessa and Zeinali, Sirous and Itin, Peter and Krueger, James G. and Laimins, Lou and Abel, Laurent and Fuchs, Elaine and Uitto, Jouni and Franco, Jose Luis and Burger, Bettina and Orth, Gérard and Jouanguy, Emmanuelle and Casanova, Jean-Laurent. (2018) The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses. Journal of experimental medicine, 215 (9). pp. 2289-2310.

de Jong, Sarah Jill and Imahorn, Elias and Itin, Peter and Uitto, Jouni and Orth, Gérard and Jouanguy, Emmanuelle and Casanova, Jean-Laurent and Burger, Bettina. (2018) Epidermodysplasia Verruciformis: Inborn Errors of Immunity to Human Beta-Papillomaviruses. Frontiers in Microbiology, 9. p. 1222.

Moreau, Adrien and Gosselin-Badaroudine, Pascal and Mercier, Aurélie and Burger, Bettina and Keller, Dagmar I. and Chahine, Mohamed. (2018) A leaky voltage sensor domain of cardiac sodium channels causes arrhythmias associated with dilated cardiomyopathy. Scientific reports, 8 (1). p. 13804.

Imahorn, E. and Yüksel, Z. and Spoerri, I. and Gürel, G. and Imhof, C. and Saraçoğlu, Z. N. and Koku Aksu, A. E. and Rady, P. L. and Tyring, S. K. and Kempf, W. and Itin, P. H. and Burger, B.. (2017) Novel TMC8 splice site mutation in epidermodysplasia verruciformis and review of HPV infections in patients with the disease. Journal of the European Academy of Dermatology and Venereology : JEADV, 31 (10). pp. 1722-1726.

Moreau, Adrien and Mercier, Aurélie and Thériault, Olivier and Boutjdir, Mohamed and Burger, Bettina and Keller, Dagmar I. and Chahine, Mohamed. (2017) Biophysical, Molecular, and Pharmacological Characterization of Voltage-Dependent Sodium Channels From Induced Pluripotent Stem Cell-Derived Cardiomyocytes. Canadian Journal of Cardiology, 33 (2). pp. 269-278.

Burger, Bettina and Spörri, Iris and Stegmann, Danielle A. and De Mesmaker, Julie and Schaub, Stefan and Itin, Peter H. and Steiger, Jürg and Arnold, Andreas W.. (2015) Risk of Cutaneous Squamous Cell Carcinoma Development in Renal Transplant Recipients Is Independent of TMC/EVER Alterations. Dermatology, 231 (3). pp. 245-252.

Spoerri, Iris and Brena, Michela and De Mesmaeker, Julie and Schlipf, Nina and Fischer, Judith and Tadini, Gianluca and Itin, Peter H. and Burger, Bettina. (2015) The phenotypic and genotypic spectra of ichthyosis with confetti plus novel genetic variation in the 3' end of KRT10: from disease to a syndrome. JAMA dermatology, 151 (1). pp. 64-69.

Nousbeck, J. and Sarig, O. and Magal, L. and Warshauer, E. and Burger, B. and Itin, P. and Sprecher, E.. (2014) Mutations in SMARCAD1 cause autosomal dominant adermatoglyphia and perturb the expression of epidermal differentiation-associated genes. British Journal of Dermatology, 171 (6). pp. 1521-1524.

Burger, B. and Itin, P. H.. (2014) Epidermodysplasia verruciformis. Current problems in dermatology, 45. pp. 123-131.

Eytan, O. and Qiaoli, L. and Nousbeck, Janna and van Steensel, Maurice and Burger, Bettina and Hohl, Daniel and Taieb, A. and Prey, S. and Bachmann, Daniel and Avitan-Hersh, Emily and Jin Chung, H. and Shemer, Avner and Trau, Henri and Bergman, R. and Fuchs-Telem, D. and Warshauer, E. and Israeli, S. and Itin, Peter H. and Sarig, Ofer and Uitto, Jouni and Sprecher, E.. (2014) Increased epidermal expression and absence of mutations in CARD14 in a series of patients with sporadic pityriasis rubra pilaris. British Journal of Dermatology, 170 (5). pp. 1196-1198.

Bruegger, Christelle and Kempf, Werner and Spoerri, Iris and Arnold, Andreas W. and Itin, Peter H. and Burger, Bettina. (2013) MicroRNA expression differs in cutaneous squamous cell carcinomas and healthy skin of immunocompetent individuals. Experimental dermatology, 22 (6). pp. 426-428.

Burger, B. and Spoerri, I. and Schubert, M. and Has, C. and Itin, P. H.. (2012) Description of the natural course and clinical manifestations of ichthyosis with confetti caused by a novel KRT10 mutation. British journal of dermatology, Vol. 166, H. 2. pp. 434-439.

Mertz, K. D. and Schmid, M. and Burger, B. and Itin, P. and Palmedo, G. and Schärer, L. and Kutzner, H. and Fernández Figueras, M. T. and Cribier, B. and Pfaltz, M. and Kempf, W.. (2011) Detection of Merkel cell polyomavirus in epidermodysplasia-verruciformis-associated skin neoplasms. Dermatology, 222 (1). pp. 87-92.

Burger, Bettina and Kind, Fabiola and Spoerri, Iris and Rütten, Arno and Battegay, Manuel and Häusermann, Peter and Itin, Peter H. and Arnold, Andreas W.. (2010) HIV-positive child with epidermodysplasia verruciformis-like lesions and homozygous mutation in TMC6. AIDS, 24 (17). pp. 2758-2760.

Itin, Peter H. and Burger, Bettina. (2010) [Genodermatoses for practitioners--principles and concepts]. Therapeutische Umschau. Revue thérapeutique, 67 (9). pp. 483-485.

Burger, Bettina and Hershkovitz, Dov and Indelman, Margarita and Kovac, Michal and Galambos, Jörg and Haeusermann, Peter and Sprecher, Eli and Itin, Peter H.. (2010) Buschke-Ollendorff syndrome in a three-generation family: influence of a novel LEMD3 mutation to tropoelastin expression. European journal of dermatology : EJD, 20 (6). pp. 693-697.

Itin, Peter H. and Heinimann, Karl and Attenhofer, Michèle and Boesch, Nemya and De Lorenzo, Rosaria and Trüb, Swantje and Burger, Bettina. (2010) Precalcaneal congenital fibrolipomatous hamartomas: is there a pathogenetic relationship with Gardner Syndrome? European journal of dermatology : EJD, 20 (2). pp. 246-247.

Itin, Peter H. and Burger, Bettina. (2010) Spontaneous fading of reticular pigmentation in Naegeli-Franceschetti-Jadassohn syndrome. Dermatology, 221 (2). pp. 135-136.

Has, Cristina and Burger, Bettina and Volz, A. and Kohlhase, Jürgen and Bruckner-Tuderman, Leena and Itin, Peter. (2010) Mild clinical phenotype of Kindler syndrome associated with late diagnosis and skin cancer. Dermatology (Basel, Switzerland), 221 (4). pp. 309-312.

Itin, Peter and Burger, Bettina. (2009) Mosaic manifestations of monogenic skin diseases. Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG, 7 (9). pp. 744-748.

Burger, Bettina and Itin, Peter. (2008) Muir-Torre syndrome. Dermatology, 217 (1). pp. 56-57.

Walgenbach-Brunagel, Gisela and Burger, Bettina and Leman, Eddy S. and Walgenbach, Klaus-J. and Tolba, Rene and Heukamp, Lukas and Hirner, Andreas and Getzenberg, Robert H.. (2008) The use of a colon cancer associated nuclear antigen CCSA-2 for the blood based detection of colon cancer. Journal of Cellular Biochemistry, 104 (1). pp. 286-294.

Burger, Bettina and Itin, Peter. (2008) Hereditäre Hauttumoren speziell der Frau. Schweizer Zeitschrift für Onkologie, 2. pp. 20-24.

Friedl, Waltraut and Uhlhaas, Siegfried and Schulmann, Karsten and Stolte, Manfred and Loff, Steffan and Back, Walter and Mangold, Elisabeth and Stern, Martin and Knaebel, Hanns-Peter and Sutter, Christian and Weber, Ruthild G. and Pistorius, Steffen and Burger, Bettina and Propping, Peter. (2002) Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers. Human genetics, 111 (1). pp. 108-111.

Burger, Bettina and Uhlhaas, Siegfried and Mangold, Elisabeth and Propping, Peter and Friedl, Waltraut and Jenne, Dieter and Dockter, Gerhard and Back, Walter. (2002) Novel de novo mutation of MADH4/SMAD4 in a patient with juvenile polyposis. American Journal of Medical Genetics, 110 (3). pp. 289-291.

Lauschke, H. and Tolba, R. and Burger, B. and Minor, T. and Hirner, A.. (2002) Lipid peroxidation as additional marker in patients with colorectal cancer. Results of a preliminary study. European Surgical Research, 34 (5). pp. 346-350.

Mergenthaler-Gatfield, Susanne and Wollmann, Hartmut A. and Burger, Bettina and Eggermann, Katja and Kaiser, Peter and Ranke, Michael B. and Schwanitz, Gesa and Eggermann, Thomas. (2000) Formation of uniparental disomy 7 delineated from new cases and a UPD7 case after trisomy 7 rescue. Presentation of own results and review of the literature. Annales de genetique, 43 (1). pp. 15-21.