Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Julia Schreml"'
Autor:
Kevin Koschitzki, Bernadett Kurz, Julia Schreml, Judith Fischer, Alrun Hotz, Christoph M. Hammers, Mark Berneburg, Dennis Niebel, Stephan Schreml
Publikováno v:
Clinical Case Reports, Vol 12, Iss 5, Pp n/a-n/a (2024)
Key Clinical Message Keratosis palmoplantaris striata type I (SPPK‐I) is a rare autosomal‐dominant type of hereditary epidermolytic palmoplantar keratoderma, which can be caused by mutations in desmoglein‐1 (DSG‐1). Patients suffer from hyper
Externí odkaz:
https://doaj.org/article/6d956dc05ec54493957bc3cb2395a270
Congenital ichthyosiform erythroderma with epidermolysis due to a novel frameshift mutation in KRT10
Autor:
Bernadett Kurz, MD, Kevin-Thomas Koschitzki, MD, Ute Hehr, MD, Ute Germer, MD, Julia Schreml, MD, Florian Langhammer, MD, Stephan Schreml, MD
Publikováno v:
JAAD Case Reports, Vol 35, Iss , Pp 74-76 (2023)
Externí odkaz:
https://doaj.org/article/9dc6b089fb0a42dda0a9ce5430fa2403
Autor:
Daniel Schiltz, Karolina Mueller, Christine Ortner, Sebastian Tschernitz, Alexandra Anker, Oliver Felthaus, Julia Schreml, Michael Koller, Lukas Prantl, Stephan Schreml
Publikováno v:
Symmetry, Vol 13, Iss 10, p 1823 (2021)
Within the subcutaneous adipose tissue diseases, multiple symmetric lipomatosis (MSL) (syn.: Launois Bensaude Syndrome, Morbus Madelung, benign symmetric lipomatosis) is rare. The pathogenesis of MSL remains unclear. We investigated the largest Germa
Externí odkaz:
https://doaj.org/article/f846621508324f27b0e37abffe55f0cf
Multiple Symmetric Lipomatosis: New Classification System Based on the Largest German Patient Cohort
Autor:
Daniel Schiltz, MD, Alexandra Anker, MD, Christine Ortner, MD, Sebastian Tschernitz, MD, Michael Koller, MD, Silvan Klein, MD, Oliver Felthaus, MD, Julia Schreml, MD, Stephan Schreml, MD, Lukas Prantl, MD
Publikováno v:
Plastic and Reconstructive Surgery, Global Open, Vol 6, Iss 4, p e1722 (2018)
Background:. Multiple symmetric lipomatosis (MSL) is defined as a disorder of nonencapsulated adipose tissue growth. Its prevalence is indicated as 1:25,000 and affects, as stated in the literature, mainly Mediterranean males (male:female ratio of 15
Externí odkaz:
https://doaj.org/article/dfe6bdcfacaa454997edced363bb4967
Autor:
Dorothea Sander, Josef Schröder, Ines Schönbuchner, Julia Schreml, Sigrid Karrer, Mark Berneburg, Stephan Schreml
Publikováno v:
Case Reports in Dermatology, Vol 8, Iss 1, Pp 19-21 (2016)
A 50-year-old man presented with congenital scaling and hyperkeratosis on his palms, the soles of his feet and the extensor areas of his joints. The flexural areas were unaffected. His maternal grandmother, questionably his maternal uncle, his mother
Externí odkaz:
https://doaj.org/article/1c2c3fe332f945cca1318ff719618543
Autor:
Tobias Eisenberger, Christine Neuhaus, Arif O Khan, Christian Decker, Markus N Preising, Christoph Friedburg, Anika Bieg, Martin Gliem, Peter Charbel Issa, Frank G Holz, Shahid M Baig, Yorck Hellenbroich, Alberto Galvez, Konrad Platzer, Bernd Wollnik, Nadja Laddach, Saeed Reza Ghaffari, Maryam Rafati, Elke Botzenhart, Sigrid Tinschert, Doris Börger, Axel Bohring, Julia Schreml, Stefani Körtge-Jung, Chayim Schell-Apacik, Khadijah Bakur, Jumana Y Al-Aama, Teresa Neuhann, Peter Herkenrath, Gudrun Nürnberg, Peter Nürnberg, John S Davis, Andreas Gal, Carsten Bergmann, Birgit Lorenz, Hanno J Bolz
Publikováno v:
PLoS ONE, Vol 8, Iss 11, p e78496 (2013)
Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are major causes of blindness. They result from mutations in many genes which has long hampered comprehensive genetic analysis. Recently, targeted next-generation sequencing (NGS) has pro
Externí odkaz:
https://doaj.org/article/86539f2aec6b41a1829b76c3c6c0becd
Publikováno v:
Medizinische Genetik. 33:13-19
Counseling recurrence risks for monogenic disorders is one of the mainstays of human genetics. However, in practice, consultations concerning autosomal recessive disorders exceed the simple conveyance of a 25 % recurrence risk for future offspring. M
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::afa30c70be6f35ce2ae6f0e9597fecd5
https://doi.org/10.1515/medgen-2021-2052
https://doi.org/10.1515/medgen-2021-2052
Publikováno v:
Braun-Falco´s Dermatology ISBN: 9783662587133
Braun-Falco´s Dermatology
Braun-Falco´s Dermatology
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68629aeb9cf77e005a869787b869b6ef
https://doi.org/10.1007/978-3-662-63709-8_62
https://doi.org/10.1007/978-3-662-63709-8_62
Autor:
Silvan Klein, Julia Schreml, Christine Ortner, Sebastian Tschernitz, Alexandra Anker, Niklas Biermann, Daniel Schiltz, Lukas Prantl, Stephan Schreml, Oliver Felthaus
Publikováno v:
Aesthetic Plastic Surgery
Introduction Multiple symmetric lipomatosis (MSL) (syn.: Launois–Bensaude Syndrome, benign symmetric lipomatosis) is a rare disease of fatty tissue. The pathophysiology of MSL still remains unclear, although several approaches have been described i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff2b7840f949896d11799605d3901a10
Autor:
Julia Schreml, Ioanna Gouni-Berthold
Publikováno v:
Current Pharmaceutical Design. 23:1562-1570
BACKGROUND Lipoprotein(a) [Lp(a)] is a particle similar to LDL that contains an additional protein called apolipoprotein(a) [apo(a)]. Recent epidemiologic and Mendelian randomization studies have provided evidence that Lp(a) may be causally related t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dbc6eccfc58d22b1164d5bd2adb5573b
https://doi.org/10.2174/1381612823666170125160108
https://doi.org/10.2174/1381612823666170125160108