Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Kira Süssmuth"'
Publikováno v:
Dermatopathology, Vol 8, Iss 2, Pp 107-123 (2021)
Ichthyoses are inborn keratinization disorders affecting the skin only (non-syndromic) or are associated with diseases of internal organs (syndromic). In newborns, they can be life-threatening. The identification of the gene defects resulted in recla
Externí odkaz:
https://doaj.org/article/c1834352003740baa88c9cc32c214399
Vitamin D Status in Distinct Types of Ichthyosis: Importance of Genetic Type and Severity of Scaling
Autor:
Mi-Ran Kim, Vinzenz Oji, Frederic Valentin, Heiko Traupe, Jerzy-Roch Nofer, Ingrid Hausser, Hans Christian Hennies, Katja Eckl, Stefan A. Wudy, Alberto Sánchez-Guijo, Laura Kerschke, Judith Fischer, Kira Süßmuth
Publikováno v:
Acta Dermato-Venereologica, Vol 101, Iss 9, p adv00546 (2021)
Data on vitamin D status of patients with inherited ichthyosis in Europe is scarce and unspecific concerning the genetic subtype. This study determined serum levels of 25-hydroxyvitamin D3 (25(OH)D3) in 87 patients with ichthyosis; 69 patients were a
Externí odkaz:
https://doaj.org/article/d4365859e08147dda236502c70629500
Autor:
Sabine Jägle, Hazem A. Juratli, Geoffroy Hickman, Kira Süssmuth, Maria C. Boente, Julia Kopp, Peter Kirchmeier, Andreas Zimmer, Rudolf Happle, Emmanuelle Bourrat, Henning Hamm, Judith Fischer
Publikováno v:
Acta Dermato-Venereologica, Vol 101, Iss 2, p adv00397 (2021)
Porokeratoses are a heterogeneous group of keratinization disorders. For linear porokeratosis and disseminated superficial actinic porokeratosis, a heterozygous pathogenic germline variant in a mevalonate pathway gene and a postzygotic second hit mut
Externí odkaz:
https://doaj.org/article/7843cc696fa34a0188ba01e7d7276cf7
Autor:
Kira Süßmuth, Dieter Metze, Ana-Maria Muresan, Kai Lehmberg, Udo zur Stadt, Carsten Speckmann, Julien Heinrich Park, Thorsten Marquardt, Vinzenz Oji, Tobias Goerge
Publikováno v:
Acta Dermato-Venereologica, Vol 100, Iss 1, p adv00002 (2020)
Abstract is missing (Short communication)
Externí odkaz:
https://doaj.org/article/8a17ac80ec6c4a0bac1cb4594bf8e668
Autor:
Cristina Has, Moritz Hess, Waltraud Anemüller, Ulrike Blume‐Peytavi, Steffen Emmert, Regina Fölster‐Holst, Jorge Frank, Kathrin Giehl, Claudia Günther, Johanna Hammersen, Kathrin Hillmann, Bettina Höflein, Peter H. Hoeger, Alrun Hotz, Thuy Anh Mai, Vinzenz Oji, Holm Schneider, Kira Süßmuth, Iliana Tantcheva‐Póor, Frederieke Thielking, Birgit Zirn, Judith Fischer, Antonia Reimer‐Taschenbrecker
Publikováno v:
Journal of the European Academy of Dermatology and Venereology. 37:402-410
Epidermolysis bullosa (EB) is a rare genetic disorder manifesting with skin and mucosal membrane blistering in different degrees of severity.Epidemiological data from different countries have been published, but none are available from Germany.In thi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cfb5aa8b93967aceab2ce21881aca83
https://doi.org/10.1111/jdv.18637
https://doi.org/10.1111/jdv.18637
Autor:
Alrun Hotz, Julia Kopp, Emmanuelle Bourrat, Vinzenz Oji, Kira Süßmuth, Katalin Komlosi, Bakar Bouadjar, Iliana Tantcheva-Poór, Maritta Hellström Pigg, Regina C. Betz, Kathrin Giehl, Fiona Schedel, Lisa Weibel, Solveig Schulz, Dora V. Stölzl, Gianluca Tadini, Emine Demiral, Karin Berggard, Andreas D. Zimmer, Svenja Alter, Judith Fischer
Publikováno v:
Genes; Volume 14; Issue 3; Pages: 717
Autosomal recessive congenital ichthyosis (ARCI) is a non-syndromic congenital disorder of cornification characterized by abnormal scaling of the skin. The three major phenotypes are lamellar ichthyosis, congenital ichthyosiform erythroderma, and har
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08ceb954c6fb55ef6956af857e5515ab
Publikováno v:
Der Pathologe. 41:326-333
Ichthyosen sind hereditare Verhornungsstorungen, die isoliert/nichtsyndromal oder mit assoziierten Erkrankungen an inneren Organen (syndromal) auftreten und bei Neugeborenen zu lebensbedrohlichen Komplikationen fuhren konnen. Die Identifizierung der
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dda908a173ba5d2d9b6ba5c0efab7e0e
https://doi.org/10.1007/s00292-020-00792-x
https://doi.org/10.1007/s00292-020-00792-x
Publikováno v:
JDDG: Journal der Deutschen Dermatologischen Gesellschaft. 18:225-245
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c684dfff2f39d20a9e177d6821f74dd1
https://doi.org/10.1111/ddg.14049_g
https://doi.org/10.1111/ddg.14049_g