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Number of items: 5.

Schwieger-Briel, Agnes; Fuentes, Ignacia; Castiglia, Daniele; Barbato, Antonio; Greutmann, Matthias; Leppert, Juna; Duchatelet, Sabine; Hovnanian, Alain; Burattini, Sofia; Yubero, M Joao; Ibañez-Arenas, Rodrigo; Rebolledo-Jaramillo, Boris; Gräni, Christoph; Ott, Hagen; Theiler, Martin; Weibel, Lisa; Paller, Amy S; Zambruno, Giovanna; Fischer, Judith; Palisson, Francis; Has, Cristina (2019). Epidermolysis Bullosa Simplex With KLHL24 Mutations Is Associated With Dilated Cardiomyopathy. Journal of Investigative Dermatology, 139(1):244-249.

Vahidnezhad, Hassan; Youssefian, Leila; Saeidian, Amir Hossein; Touati, Andrew; Pajouhanfar, Sara; Baghdadi, Taghi; Shadmehri, Azam Ahmadi; Giunta Meyer, Cecilia; Kraenzlin, Marius; Syx, Delfien; Malfait, Fransiska; Has, Cristina; Lwin, Su M; Karamzadeh, Razieh; Liu, Lu; Guy, Alyson; Hamid, Mohammad; Kariminejad, Ariana; Zeinali, Sirous; McGrath, John A; Uitto, Jouni (2018). Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency. Matrix Biology:Epub ahead of print.

Schwieger-Briel, Agnes; Kiritsi, Dimitra; Schempp, Christoph; Has, Cristina; Schumann, Hauke (2017). Betulin-based oleogel to improve wound healing in dystrophic epidermolysis bullosa: a prospective controlled proof-of-concept study. Dermatology Research and Practice, 2017:5068969.

He, Yinghong; Maier, Kristin; Leppert, Juna; Hausser, Ingrid; Schwieger-Briel, Agnes; Weibel, Lisa; Theiler, Martin; Kiritsi, Dimitra; Busch, Hauke; Boerries, Melanie; Hannula-Jouppi, Katariina; Heikkilä, Hannele; Tasanen, Kaisa; Castiglia, Daniele; Zambruno, Giovanna; Has, Cristina (2016). Monoallelic mutations in the translation initiation codon of KLHL24 cause skin fragility. American Journal of Human Genetics, 99(6):1395-1404.

Has, Cristina; Spartà, Giuseppina; Kiritsi, Dimitra; Weibel, Lisa; Moeller, Alexander; Vega-Warner, Virginia; Waters, Aoife; He, Yinghong; Anikster, Yair; Esser, Philipp; Straub, Beate K; Hausser, Ingrid; Bockenhauer, Detlef; Dekel, Benjamin; Hildebrandt, Friedhelm; Bruckner-Tuderman, Leena; Laube, Guido F (2012). Integrin α3 mutations with kidney, lung, and skin disease. New England Journal of Medicine, 366(16):1508-1514.

This list was generated on Fri May 24 20:06:13 2019 CEST.