@article{UBHD-68986116,
  author={Albrecht, Beate Hilde and de Brouwer, Arjan P. and Lefeber, Dirk J. and Cremer, Kirsten and Haußer-Siller, Ingrid and Rossen, Nick and Wortmann, Saskia B. and Wevers, Ron A. and Kornak, Uwe and Morava, Eva},
  title={MACS syndrome},
  subtitle={a combined collagen and elastin disorder due to abnormal Golgi trafficking},
  year={2010},
  pages={2916-2918},
  language={eng},
  issn={1552-4833},
  volume={152A},
  number={11},
  note={Gesehen am 16.11.2022},
  journal={American journal of medical genetics},
  doi={10.1002/ajmg.a.33712},
}
@article{UBHD-68296943,
  author={Almeida, Hiram Larangeira de and Haußer-Siller, Ingrid},
  title={Acral lamellar Ichthyosis},
  subtitle={expanding the phenotype of temperature-sensitive keratinization disorders},
  year={2018},
  pages={e206-e207},
  language={eng},
  issn={1468-3083},
  volume={32},
  number={5},
  note={First published: 01 December 2017 ; Gesehen am 20.08.2018},
  journal={Journal of the European Academy of Dermatology and Venereology},
  doi={10.1111/jdv.14724},
}
@article{UBHD-69367012,
  author={Angwin, Chloe and Byers, P. and Dulfer, E. and Ghali, N. and Harris, Juliette and Haußer-Siller, Ingrid and McElroy, Abigail and Sobey, G. and van Dijk, F. S.},
  title={The natural history of dermatosparaxis Ehlers Danlos syndrome},
  subtitle={an adult case series},
  year={2025},
  pages={1-13},
  language={eng},
  issn={1552-4833},
  volume={197},
  note={Gesehen am 18.07.2025},
  journal={American journal of medical genetics},
  doi={10.1002/ajmg.a.63957},
}
@article{UBHD-69271942,
  author={Angwin, Chloe and Doolan, Brent J and Haußer-Siller, Ingrid and Labine, Barry and Lavallee, Mark and Mackay, Donald and Pope, F Michael and Seneviratne, Suranjith L and Winship, Ingrid and Burrows, Nigel P},
  title={Skin fragility and wound management in Ehlers-Danlos syndromes},
  subtitle={a report by the International Consortium on Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders Skin Working Group},
  year={2024},
  pages={1496-1503},
  language={eng},
  issn={1365-2230},
  volume={49},
  number={12},
  note={Gesehen am 08.11.2024},
  journal={Clinical and experimental dermatology},
  doi={10.1093/ced/llae201},
}
@article{UBHD-68896363,
  author={Arin, Meral Julia and Oji, V. and Emmert, S. and Haußer-Siller, Ingrid and Traupe, H. and Krieg, T. and Grimberg, G.},
  title={Expanding the keratin mutation database},
  subtitle={novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis},
  year={2011},
  pages={442-447},
  language={eng},
  issn={1365-2133},
  volume={164},
  number={2},
  note={First published: 26 October 2010 ; Gesehen am 18.03.2022},
  journal={British journal of dermatology},
  doi={10.1111/j.1365-2133.2010.10096.x},
}
@article{UBHD-68292830,
  author={Arnold, Andreas and Haußer-Siller, Ingrid},
  title={Type 1 segmental Galli-Galli disease resulting from a previously unreported keratin 5 mutation},
  year={2015},
  pages={2100-2103},
  language={eng},
  issn={1523-1747},
  volume={132},
  number={8},
  note={Available online 8 December 2015 ; Gesehen am 07.08.2018},
  journal={The journal of investigative dermatology},
  doi={10.1038/jid.2012.72},
}
@article{UBHD-68297958,
  author={Aufenvenne, Karin and Haußer-Siller, Ingrid},
  title={Long-term faithful recapitulation of transglutaminase 1-deficient lamellar ichthyosis in a skin-humanized mouse model, and insights from proteomic studies},
  year={2012},
  pages={1918-1921},
  language={eng},
  issn={1523-1747},
  volume={132},
  number={7},
  note={Gesehen am 22.08.2018},
  journal={The journal of investigative dermatology},
  doi={10.1038/jid.2012.65},
}
@article{UBHD-68652862,
  author={Aufenvenne, Karin and Larcher, Fernando and Haußer-Siller, Ingrid and Duarte, Blanca and Oji, Vinzenz and Nikolenko, Heike and Del Rio, Marcela and Dathe, Margitta and Traupe, Heiko},
  title={Topical enzyme-replacement therapy restores transglutaminase 1 activity and corrects architecture of transglutaminase-1-deficient skin grafts},
  year={2013},
  pages={620-630},
  language={eng},
  issn={1537-6605},
  volume={93},
  number={4},
  note={Gesehen am 22.10.2020},
  journal={The American journal of human genetics},
  doi={10.1016/j.ajhg.2013.08.003},
}
@article{UBHD-68477066,
  author={Ballin, Nadja and Haußer-Siller, Ingrid},
  title={Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4},
  year={2019},
  pages={2318-2333},
  language={eng},
  issn={1098-1004},
  volume={40},
  number={12},
  note={Gesehen am 16.01.2020},
  journal={Human mutation},
  doi={10.1002/humu.23883},
}
@article{UBHD-68719689,
  author={Bayerl, Christiane and Kurzen, Marina and Treiss, Irmgard and Haußer-Siller, Ingrid and Walker, Torsten Johannes},
  title={Sj{\"o}gren-Larsson-Syndrom mit reduzierter Fettaldehyddehydrogenase-Aktivit{\"a}t bei einem Kollodiumbaby und konsanguinen Eltern},
  year={2002},
  pages={161-164},
  language={ger},
  issn={1438-938X},
  volume={28},
  number={5},
  note={Gesehen am 01.04.2021},
  journal={Aktuelle Dermatologie},
  doi={10.1055/s-2002-33483},
}
@article{UBHD-68628342,
  author={Benoit, Sandrine and Haußer-Siller, Ingrid},
  title={White sponge nevus},
  subtitle={a rare autosomal dominant keratinopathy},
  year={2014},
  pages={375-376},
  language={eng},
  issn={1439-3824},
  volume={226},
  number={06/07},
  note={Gesehen am 18.08.2020},
  journal={Klinische P{\"a}diatrie},
  doi={10.1055/s-0034-1371843},
}
@article{UBHD-69126379,
  author={Blaschke, Sonja and M{\"o}ller, Ronald and Haußer-Siller, Ingrid and Anton-Lamprecht, Ingrun and Paul, Eberhard},
  title={Comèl-Netherton-Syndrom},
  year={1998},
  pages={499-504},
  language={ger},
  issn={1432-1173},
  volume={49},
  number={6},
  note={Gesehen am 04.10.2023},
  journal={Der Hautarzt},
  doi={10.1007/s001050050778},
}
@article{UBHD-68901257,
  author={Blaydon, Diana C. and Nitoiu, Daniela and Eckl, Katja-Martina and Cabral, Rita M. and Bland, Philip and Haußer-Siller, Ingrid and van Heel, David A. and Rajpopat, Shefali and Fischer, Judith and Oji, Vinzenz and Zvulunov, Alex and Traupe, Heiko and Hennies, Hans Christian and Kelsell, David P.},
  title={Mutations in CSTA, encoding cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion},
  year={2011},
  pages={564-571},
  language={eng},
  issn={1537-6605},
  volume={89},
  number={4},
  note={Gesehen am 30.03.2022},
  journal={The American journal of human genetics},
  doi={10.1016/j.ajhg.2011.09.001},
}
@article{UBHD-68966610,
  author={Boger, Mike and Bennewitz, Katrin and Wohlfart, David Philipp and Haußer-Siller, Ingrid and Sticht, Carsten and Poschet, Gernot and Kroll, Jens},
  title={Comparative morphological, metabolic and transcriptome analyses in elmo1-/-, elmo2-/-, and elmo3-/- zebrafish mutants identified a functional non-redundancy of the Elmo proteins},
  year={2022},
  pages={1-18},
  language={eng},
  issn={2296-634X},
  volume={10(2022) vom: Juli},
  number={Artikel-ID 918529},
  note={Im Titel ist "-/-" jeweils hochgestellt ; Gesehen am 22.09.2022},
  journal={Frontiers in cell and developmental biology},
  doi={10.3389/fcell.2022.918529},
  url={https://doi.org/10.3389/fcell.2022.918529},
  library={UB},
}
@article{UBHD-68489586,
  author={Bonafont, Jose and Haußer-Siller, Ingrid},
  title={Clinically relevant correction of recessive dystrophic epidermolysis bullosa by dual sgRNA CRISPR/Cas9-mediated gene editing},
  year={2019},
  pages={986-998},
  language={eng},
  issn={1525-0024},
  volume={27},
  number={5},
  note={Gesehen am 17.02.2020},
  journal={Molecular therapy},
  doi={10.1016/j.ymthe.2019.03.007},
}
@article{UBHD-68735720,
  author={Bornert, Olivier and Hogervorst, Marieke and Nauroy, Pauline and Bischof, Johannes and Swildens, Jim and Athanasiou, Ioannis and Tufa, Sara F. and Keene, Douglas R. and Kiritsi, Dimitra and Hainzl, Stefan and Murauer, Eva M. and Marinkovich, M. Peter and Platenburg, Gerard and Haußer-Siller, Ingrid and Wally, Verena and Ritsema, Tita and Koller, Ulrich and Haisma, Elisabeth M. and Nystr{\"o}m, Alexander},
  title={QR-313, an antisense oligonucleotide, shows therapeutic efficacy for treatment of dominant and recessive dystrophic epidermolysis bullosa},
  subtitle={a preclinical study},
  year={2021},
  pages={883-893},
  language={eng},
  issn={1523-1747},
  volume={141},
  number={4},
  note={Das PDF enth{\"a}lt zus{\"a}tzlich einen Anhang von 6 Seiten (893.e1-893.e6) ; Corrected proof published online 17 November 2020 ; Gesehen am 10.05.2021},
  journal={The journal of investigative dermatology},
  doi={10.1016/j.jid.2020.08.018},
}
@article{UBHD-67797134,
  author={Brandt, Tobias and Haußer-Siller, Ingrid and Orberk, Erdem and Grau, Armin J. and Hartschuh, Wolfgang and Anton-Lamprecht, Ingrun and Hacke, Werner},
  title={Ultrastructural connective tissue abnormalities in patients with spontaneous cervicocerebral artery dissections},
  year={1998},
  pages={281-5},
  language={eng},
  issn={1531-8249},
  volume={44},
  number={2},
  note={Elektronische Reproduktion der Druck-Ausgabe 8. Oktober 2004 ; Gesehen am 26.05.2025},
  journal={Annals of neurology},
  doi={10.1002/ana.410440224},
}
@article{UBHD-68934820,
  author={Callewaert, Bert and Renard, Marjolijn and Hucthagowder, Vishwanathan and Albrecht, Beate and Haußer-Siller, Ingrid and Blair, Edward and Dias, Cristina and Albino, Alice and Wachi, Hiroshi and Sato, Fumiaki and Mecham, Robert P. and Loeys, Bart and Coucke, Paul J. and De Paepe, Anne and Urban, Zsolt},
  title={New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations},
  year={2011},
  pages={445-455},
  language={eng},
  issn={1098-1004},
  volume={32},
  number={4},
  note={Gesehen am 27.06.2022},
  journal={Human mutation},
  doi={10.1002/humu.21462},
}
@article{UBHD-68453174,
  author={Chamorro, Cristina and Haußer-Siller, Ingrid},
  title={Gene editing for the efficient correction of a recurrent COL7A1 mutation in recessive dystrophic epidermolysis bullosa keratinocytes},
  year={2016},
  language={eng},
  issn={2162-2531},
  volume={5(2016) Artikel-Nummer e307},
  number={13 Seiten},
  note={Gesehen am 11.11.2019},
  journal={Molecular therapy},
  doi={10.1038/mtna.2016.19},
}
@article{UBHD-68379301,
  author={Chan, Wing Lee and Haußer-Siller, Ingrid},
  title={Impaired proteoglycan glycosylation, elevated TGF-β signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplastica},
  year={2018},
  pages={24 S.},
  language={eng},
  issn={1553-7404},
  volume={14(2018},
  note={Gesehen am 09.04.2019},
  journal={PLoS Genetics},
  doi={10.1371/journal.pgen.1007242},
}
@article{UBHD-68285039,
  author={Chmel, Nadja and Haußer-Siller, Ingrid},
  title={Large deletions targeting the triple-helical domain of collagen VII lead to mild acral dominant dystrophic epidermolysis bullosa},
  year={2018},
  pages={987-991},
  language={eng},
  issn={1523-1747},
  volume={138},
  number={4},
  note={Corrected proof published online 2 March 2018 ; Gesehen am 12.07.2018},
  journal={The journal of investigative dermatology},
  doi={10.1016/j.jid.2017.11.014},
}
@book{UBHD-9825590,
  author={Cole, Theodor C. H. and Haußer-Siller, Ingrid},
  title={W{\"o}rterbuch der Biologie},
  subtitle={englisch-deutsch; deutsch-englisch},
  publisher={Spektrum, Akad. Verl.},
  address={Heidelberg ; Berlin},
  year={1998},
  pages={XII, 774 S.},
  language={ger and eng},
  isbn={3-8274-0375-8 and 978-3-8274-0375-9},
  keywords={Biologie / Englisch / Deutsch},
  library={UB [Signatur: UBN/WB 1154 C689] ; DI [Signatur: D 15.57 / Cole]},
}
@book{UBHD-65909426,
  author={Cole, Theodor C. H. and Haußer-Siller, Ingrid},
  title={W{\"o}rterbuch der Biologie},
  subtitle={Englisch - Deutsch, German - English},
  edition={2. Aufl.},
  publisher={Elsevier Spektrum Akademischer-Verl.},
  address={Heidelberg ; M{\"u}nchen},
  year={2005},
  pages={XI, 777 S},
  language={ger and eng},
  isbn={3-8274-1628-0 and 978-3-8274-1628-5},
  keywords={Biologie ; Englisch / Biologie / Deutsch ; Biologie ; Englisch / Biologie / Deutsch},
  library={UB [Signatur: UBN/WB 1154 C689(2)] ; ZL [Signatur: <ZL> W/E]},
}
@book{UBHD-66591395,
  author={Cole, Theodor C. H. and Haußer-Siller, Ingrid},
  title={W{\"o}rterbuch der Biologie},
  subtitle={Deutsch-Englisch, English-German},
  edition={3. Aufl.},
  publisher={Spektrum, Akad. Verl.},
  address={Heidelberg},
  year={2008},
  pages={XVII, 1009 S.},
  language={ger and eng},
  isbn={978-3-8274-1960-6},
  note={Literaturverz. S. [993] - 1009},
  keywords={Biologie ; Englisch / Biologie / Deutsch},
}
@book{UBHD-68077925,
  author={Cole, Theodor C. H. and Haußer-Siller, Ingrid},
  title={W{\"o}rterbuch der Biologie},
  subtitle={Deutsch-Englisch, English-German},
  edition={4. Aufl.},
  publisher={Springer Spektrum},
  address={Berlin ; Heidelberg},
  year={2015},
  pages={XVIII, 666 S.},
  language={ger and eng},
  isbn={3-642-55327-3 and 978-3-642-55327-1},
  note={Literaturverz. S. 657 - 666},
  keywords={Biologie ; Englisch / Biologie / Deutsch},
  library={UB [Signatur: UBN/WB 1154 C689(4)] ; UB},
}
@book{UBHD-67740776,
  author={Cole, Theodor C. H. and Haußer-Siller, Ingrid},
  title={W{\"o}rterbuch der Biologie},
  subtitle={Deutsch-Englisch; English-German},
  edition={4., neu bearb. u. aktualisierte Aufl. 2015},
  publisher={Springer Spektrum},
  address={Berlin, Heidelberg},
  year={2015},
  pages={Online-Ressource (XVIII, 666 S. 1 Abb, online resource)},
  language={ger},
  isbn={978-3-642-55328-8},
  series={Springer eBook Collection},
  doi={10.1007/978-3-642-55328-8},
  keywords={Biologie ; Englisch / Biologie / Deutsch},
  url={http://dx.doi.org/10.1007/978-3-642-55328-8},
  library={UB ; UW},
}
@book{UBHD-66383287,
  author={Doherty, Peter C. and Wiese, Martina and Haußer-Siller, Ingrid},
  title={So gewinnt man den Nobelpreis},
  subtitle={das Geheimnis guter Wissenschaft},
  publisher={Spektrum, Akademischer Verl.},
  address={Heidelberg},
  year={2007},
  pages={XX, 310 S.},
  language={ger},
  isbn={978-3-8274-1870-8 and 3-8274-1870-4},
  series={Spektrum Sachbuch},
  note={Literaturverz. S. [296] - 299},
  keywords={Wissenschaft ; Nobelpreis},
  library={UB [Signatur: 2007 A 9082]},
}
@article{UBHD-69131747,
  author={Doolan, Brent and Lavallee, Mark and Haußer-Siller, Ingrid and Pope, F. Michael and Seneviratne, Suranjith L. and Winship, Ingrid M. and Burrows, Nigel P.},
  title={Dermatologic manifestations and diagnostic assessments of the Ehlers-Danlos syndromes},
  subtitle={a clinical review},
  year={2023},
  pages={551-559},
  language={eng},
  issn={1097-6787},
  volume={89},
  number={3 vom: Sept.},
  note={Online verf{\"u}gbar: 8. Februar 2023, Artikelversion: 18. August 2023 ; Gesehen am 19.10.2023},
  journal={Journal of the American Academy of Dermatology},
  doi={10.1016/j.jaad.2023.01.034},
}
@article{UBHD-68922553,
  author={Drerup, Lisanne and S{\"u}ßmuth, Kira and Komlosi, K. and Kopp, J. and Drerup, C. and Metze, D. and Traupe, Heiko and Haußer-Siller, Ingrid and Eckl, K. M. and Hennies, H. C. and Fischer, Judith and Oji, V.},
  title={Quality of life and clinical characteristics of self-improving congenital ichthyosis within the disease spectrum of autosomal-recessive congenital ichthyosis},
  year={2022},
  pages={582-591},
  language={eng},
  issn={1468-3083},
  volume={36},
  number={4 vom: Apr.},
  note={First published online: 15 December 2021 ; Gesehen am 25.05.2022},
  journal={Journal of the European Academy of Dermatology and Venereology},
  doi={10.1111/jdv.17873},
}
@book{UBHD-68722039,
  author={Dressler, David and Potter, Huntington and Haußer-Siller, Ingrid},
  title={Katalysatoren des Lebens},
  subtitle={Struktur und Wirkung von Enzymen},
  publisher={Spektrum Akad. Verl.},
  address={Heidelberg ; Berlin ; New York},
  year={1992},
  pages={258 S.},
  language={ger},
  isbn={3-86025-027-2 and 978-3-86025-027-3},
  number={ARRAY(0x564a28571918)},
  series={Spektrum-Bibliothek},
  note={Literaturverz. S. 251},
  keywords={Enzym ; Enzym},
}
@book{UBHD-9425499,
  author={Duve, Christian de},
  title={Ursprung des Lebens},
  subtitle={pr{\"a}biotische Evolution und die Entstehung der Zelle},
  publisher={Spektrum, Akad. Verl.},
  address={Heidelberg ; Berlin ; Oxford},
  year={1994},
  pages={XV, 296 S.},
  language={ger},
  isbn={3-86025-187-2 and 978-3-86025-187-4},
  note={Literaturverz. S. 245 - 283},
  keywords={Biogenese ; Biogenese},
  library={UB [Signatur: UBN/WH 2800 D985] ; ES [Signatur: <ES> 6411 Duve]},
}
@article{UBHD-68678293,
  author={Eckl, Katja Martina and Tidhar, Rotem and Thiele, Holger and Oji, Vinzenz and Haußer-Siller, Ingrid and Brodesser, Susanne and Preil, Marie-Luise and {\"O}nal-Akan, Aysel and Stock, Friedrich and M{\"u}ller, Dietmar and Becker, Kerstin and Casper, Ramona and N{\"u}rnberg, Gudrun and Altm{\"u}ller, Janine and N{\"u}rnberg, Peter and Traupe, Heiko and Futerman, Anthony H. and Hennies, Hans C.},
  title={Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length},
  year={2013},
  pages={2202-2211},
  language={eng},
  issn={1523-1747},
  volume={133},
  number={9},
  note={Gesehen am 08.01.2021},
  journal={The journal of investigative dermatology},
  doi={10.1038/jid.2013.153},
}
@article{UBHD-68244939,
  author={Erhart, Philipp and Straub, Beate Katharina and Haußer-Siller, Ingrid and B{\"o}ckler, Dittmar and Grond-Ginsbach, Caspar},
  title={Familial aortic disease and a large duplication in chromosome 16p13.1},
  year={2018},
  pages={441-445},
  language={eng},
  issn={2324-9269},
  volume={6},
  number={3},
  note={Gesehen am 20.04.2018},
  journal={Molecular genetics & genomic medicine},
  doi={10.1002/mgg3.371},
  url={http://dx.doi.org/10.1002/mgg3.371},
  library={UB},
}
@article{UBHD-68955413,
  author={Erhart, Philipp and K{\"o}rfer, Daniel and Dihlmann, Susanne and Qiao, Jia-Lu and Haußer-Siller, Ingrid and Ringleb, Peter A. and M{\"a}nner, J{\"o}rg and Dikow, Nicola and Schaaf, Christian P. and Grond-Ginsbach, Caspar and B{\"o}ckler, Dittmar},
  title={Multiple arterial dissections and connective tissue abnormalities},
  year={2022},
  pages={1-9},
  language={eng},
  issn={2077-0383},
  volume={11},
  note={Gesehen am 18.08.2022 ; This article belongs to the special issue "New frontiers in the clinical management of stroke"},
  journal={Journal of Clinical Medicine},
  doi={10.3390/jcm11123264},
}
@article{UBHD-68414488,
  author={Fischer-Zirnsak, Bj{\"o}rn and Haußer-Siller, Ingrid and Thiel, Christian},
  title={SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy},
  year={2019},
  pages={609-616},
  language={eng},
  issn={1435-232X},
  volume={64},
  number={7},
  note={Gesehen am 31.07.2019},
  journal={Journal of human genetics},
  doi={10.1038/s10038-019-0602-8},
}
@article{UBHD-68470473,
  author={Fricke, Fabia and Michalak, Malwina and Warnken, Uwe and Haußer-Siller, Ingrid and Schn{\"o}lzer, Martina and Kopitz, J{\"u}rgen and Gebert, Johannes},
  title={SILAC-based quantification of TGFBR2-regulated protein expression in extracellular vesicles of microsatellite unstable colorectal cancers},
  year={2019},
  pages={20 S.},
  language={eng},
  issn={1422-0067 and 1661-6596},
  volume={20(2019},
  note={Gesehen am 23.12.2019},
  journal={International journal of molecular sciences},
  doi={10.3390/ijms20174162},
}
@article{UBHD-68465248,
  author={Fricke, Fabia and Mussack, Veronika and Buschmann, Dominik and Haußer-Siller, Ingrid and Pfaffl, Michael W. and Kopitz, J{\"u}rgen and Gebert, Johannes},
  title={TGFBR2‑dependent alterations of microRNA profiles in extracellular vesicles and parental colorectal cancer cells},
  year={2019},
  pages={925-937},
  language={eng},
  issn={1791-2423},
  volume={55},
  number={4},
  note={Gesehen am 09.12.2019},
  journal={International journal of oncology},
  doi={10.3892/ijo.2019.4859},
}
@book{UBHD-68116674,
  author={Fricke, Fabia and Lee, Jennifer and Michalak, Malwina and Haußer-Siller, Ingrid and Suarez-Carmona, Meggy and Halama, Niels and Kopitz, J{\"u}rgen and Gebert, Johannes},
  title={TGFBR2-dependent alterations of exosomal cargo and functions in DNA mismatch repair-deficient HCT116 colorectal cancer cells},
  publisher={BioMed Central},
  address={London},
  year={2017},
  pages={1 Online-Ressource},
  language={eng},
  note={Aus: Cell Communication and Signaling, 15 (2017), Nr. 14. pp. 1-14. ISSN 1478-811X},
  doi={10.1186/s12964-017-0169-y},
  url={https://nbn-resolving.org/urn:nbn:de:bsz:16-heidok-228111},
  library={UB},
}
@article{UBHD-68115939,
  author={Fricke, Fabia and Lee, Jennifer and Michalak, Malwina and Haußer-Siller, Ingrid and Suarez-Carmona, Meggy and Halama, Niels and Kopitz, J{\"u}rgen and Gebert, Johannes},
  title={TGFBR2-dependent alterations of exosomal cargo and functions in DNA mismatch repair-deficient HCT116 colorectal cancer cells},
  year={2017},
  language={eng},
  issn={1478-811X},
  volume={15(2017) Artikel-Nummer 14},
  number={14 Seiten},
  note={Gesehen am 04.05.2017},
  journal={Cell communication and signaling},
  doi={10.1186/s12964-017-0169-y},
  url={http://dx.doi.org/10.1186/s12964-017-0169-y},
  library={UB},
}
@article{UBHD-68287795,
  author={Gaiser, Maria and Haußer-Siller, Ingrid and Hassel, Jessica C.},
  title={Spiny keratoderma of the palms and soles},
  subtitle={once seen, never forgotten},
  year={2017},
  pages={939-941},
  language={eng},
  issn={1610-0387},
  volume={15},
  number={9},
  note={Gesehen am 23.07.2018},
  journal={Journal der Deutschen Dermatologischen Gesellschaft},
  doi={10.1111/ddg.13313},
}
@article{UBHD-68719736,
  author={Giunta, Cecilia and Nuytinck, L. and Raghunath, Martin and Haußer-Siller, Ingrid and Paepe, A. de and Steinmann, Beat U.},
  title={Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome},
  year={2002},
  pages={284-290},
  language={eng},
  issn={1096-8628},
  volume={109},
  number={4 vom: Mai},
  note={Gesehen am 01.04.2021},
  journal={American journal of medical genetics},
  doi={10.1002/ajmg.10373},
}
@article{UBHD-68246162,
  author={Grall, Anaïs and Haußer-Siller, Ingrid and Thomas, Anne and Fontaine, Jacques and Pin, Didier and Zimmermann, Robert and André, Catherine and Fischer, Judith P.},
  title={PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans},
  year={2012},
  pages={140-147},
  language={eng},
  issn={1546-1718},
  volume={44},
  number={2},
  note={Gesehen am 24.04.2018},
  journal={Nature genetics},
  doi={10.1038/ng.1056},
}
@article{UBHD-68255708,
  author={Grond-Ginsbach, Caspar and Pjontek, Rastislav and Wiest, Tina and Burwinkel, Barbara and Kloss, Manja and Arnold, Marie-Luise and Lichy, Christoph and Haußer-Siller, Ingrid},
  title={Copy number variation in patients with cervical artery dissection},
  year={2012},
  pages={1295-1299},
  language={eng},
  issn={1476-5438},
  volume={20},
  number={12},
  note={Gesehen am 29.05.2019},
  journal={European journal of human genetics},
  doi={10.1038/ejhg.2012.82},
}
@article{UBHD-67849198,
  author={Grond-Ginsbach, Caspar and Klima, Bernhard and Weber, Ralf and Striegel, Johannes and Fischer, Christine and Hacke, Werner and Brandt, Tobias and Haußer-Siller, Ingrid},
  title={Exclusion mapping of the genetic predisposition for cervical artery dissections by linkage analysis},
  year={2002},
  pages={359-64},
  language={eng},
  issn={1531-8249},
  volume={52},
  number={3},
  note={Gesehen am 22.07.2015},
  journal={Annals of neurology},
  doi={10.1002/ana.10268},
}
@article{UBHD-68722254,
  author={Grond-Ginsbach, Caspar and Weber, Ralf and Haas, J{\"u}rgen and Orberk, Erdem and Kunz, Stefanie and Busse, Otto and Haußer-Siller, Ingrid and Brandt, Tobias and Wildemann, Brigitte},
  title={Mutations in the COL5A1 coding sequence are not common in patients with spontaneous cervical artery dissections},
  year={1999},
  pages={1887-1890},
  language={eng},
  issn={1524-4628},
  volume={30},
  number={9},
  note={Gesehen am 12.04.2021},
  journal={Stroke},
  doi={10.1161/01.STR.30.9.1887},
}
@article{UBHD-68719720,
  author={Grond-Ginsbach, Caspar and Wigger, Frank and Morcher, Marion and Pein, Florian von and Grau, Armin J. and Haußer-Siller, Ingrid and Brandt, Tobias},
  title={Sequence analysis of the COL5A2 gene in patients with spontaneous cervical artery dissections},
  year={2002},
  pages={1103-1105},
  language={eng},
  issn={1526-632X},
  volume={58},
  number={7},
  note={Gesehen am 01.04.2021},
  journal={Neurology},
  doi={10.1212/WNL.58.7.1103},
}
@article{UBHD-69047535,
  author={Hakimi, Maani and Geisb{\"u}sch, Philipp and Groß-Weissmann, Marie-Luise and Hyhlik-D{\"u}rr, Alexander and Haußer-Siller, Ingrid and Tengg-Kobligk, Hendrik von and B{\"o}ckler, Dittmar},
  title={Treatment of an asymptomatic penetrating aortic ulcer in a young patient},
  year={2010},
  pages={175-179},
  language={eng},
  issn={1664-2872},
  volume={39},
  number={2 vom: Mai},
  note={Elektronische Reproduktion der Druckausgabe ; Online ver{\"o}ffentlicht: January 07, 2013 ; Gesehen am 03.03.2023},
  journal={Vasa},
  doi={10.1024/0301-1526/a000024},
}
@article{UBHD-68301560,
  author={Has, Cristina and Straub, Beate Katharina and Haußer-Siller, Ingrid},
  title={Integrin α3 mutations with kidney, lung, and skin disease},
  year={2012},
  pages={1508-1514},
  language={eng},
  issn={1533-4406},
  volume={366},
  number={16},
  note={Gesehen am 03.09.2018 ; "3" ist im Titel tiefgestellt},
  journal={The New England journal of medicine},
  doi={10.1056/NEJMoa1110813},
}
@article{UBHD-68032830,
  author={Has, Cristina and Haußer-Siller, Ingrid},
  title={Loss of desmoglein 1 associated with palmoplantar keratoderma, dermatitis and multiple allergies},
  year={2015},
  pages={257-261},
  language={eng},
  issn={1365-2133},
  volume={172},
  number={1},
  note={Gesehen am 27.09.2016},
  journal={British journal of dermatology},
  doi={10.1111/bjd.13247},
}
@article{UBHD-68301557,
  author={Has, Cristina and Haußer-Siller, Ingrid},
  title={Monoallelic large intragenic KRT5 deletions account for genetically unsolved cases of Epidermolysis bullosa simplex},
  year={2017},
  pages={2231-2234},
  language={eng},
  issn={1523-1747},
  volume={137},
  number={10},
  note={Gesehen am 03.09.2018},
  journal={The journal of investigative dermatology},
  doi={10.1016/j.jid.2017.05.016},
}
@article{UBHD-68572216,
  author={Has, Cristina and Haußer-Siller, Ingrid},
  title={Target-sequence capture and high throughput sequencing identify a de novo CARD14 mutation in an infant with erythrodermic pityriasis rubra pilaris},
  year={2016},
  pages={989-990},
  language={eng},
  issn={1651-2057},
  volume={96},
  number={7},
  note={Gesehen am 30.04.2020},
  journal={Acta dermato-venereologica},
  doi={10.2340/00015555-2446},
}
@article{UBHD-69126433,
  author={Haußer-Siller, Ingrid and Anton-Lamprecht, Ingrun},
  title={Differential ultrastructural aberrations of collagen fibrils in Ehlers-Danlos syndrome types I-IV as a means of diagnostics and classification},
  year={1994},
  pages={394-407},
  language={eng},
  issn={1432-1203},
  volume={93},
  number={4},
  note={Gesehen am 04.10.2023},
  journal={Human genetics},
  doi={10.1007/BF00201664},
}
@article{UBHD-68315889,
  author={Haußer-Siller, Ingrid},
  title={Ichthyoses},
  subtitle={new insights unravel defects in skin barrier function resulting in diverse clinical and morphological phenotypes},
  year={2017},
  pages={863-864},
  language={eng},
  issn={1365-2133},
  volume={176},
  number={4},
  note={Gesehen am 16.10.2018},
  journal={British journal of dermatology},
  doi={10.1111/bjd.15211},
}
@book{UBHD-2523227,
  author={Haußer-Siller, Ingrid},
  title={Innere und {\"a}ußere Strukturelemente bei der Morphogenese von Micrasterias denticulata},
  year={1984},
  pages={124 Bl.},
  language={ger},
  school={Heidelberg, Univ., Diss., 1984},
  keywords={Micrasterias denticulata / Morphogenese},
  library={UB [Signatur: 85 U 288] ; UB [Signatur: 85 U 288]},
}
@article{UBHD-69124859,
  author={Haußer-Siller, Ingrid and Anton-Lamprecht, Ingrun},
  title={Severe congenital generalized exfoliative erythroderma in newborns and infants},
  subtitle={a possible sign of Netherton syndrome},
  year={1996},
  pages={183-199},
  language={eng},
  issn={1525-1470},
  volume={13},
  number={3},
  note={Gesehen am 27.09.2023},
  journal={Pediatric dermatology},
  doi={10.1111/j.1525-1470.1996.tb01202.x},
}
@article{UBHD-68966995,
  author={Haverk{\"a}mper, Sabine and Marquardt, Thorsten and Haußer-Siller, Ingrid and Timme, Katharina and Kuehn, Thomas and Hertzberg, Christoph and Rossi, Rainer},
  title={Congenital ichthyosis in severe type II Gaucher disease with a homozygous null mutation},
  year={2011},
  pages={194-197},
  language={eng},
  issn={1661-7819},
  volume={100},
  number={2 vom: Aug.},
  note={Gesehen am 23.09.2022},
  journal={Neonatology},
  doi={10.1159/000324116},
}
@article{UBHD-68245129,
  author={Heinz, Lisa and Haußer-Siller, Ingrid},
  title={Mutations in SULT2B1 cause autosomal-recessive congenital ichthyosis in humans},
  year={2017},
  pages={926-939},
  language={eng},
  issn={1537-6605},
  volume={100},
  number={6},
  note={Gesehen am 20.04.2018},
  journal={The American journal of human genetics},
  doi={10.1016/j.ajhg.2017.05.007},
}
@article{UBHD-69066911,
  author={Helbig, Ingo and F{\"o}lster-Holst, Regina and Brasch, Jochen and Haußer-Siller, Ingrid and Baalen, Andreas van and Muhle, Hiltrud and Alfke, Karsten and Caliebe, Almuth and Stephani, Ulrich and Happle, Rudolf},
  title={Dyschromatosis ptychotropica},
  subtitle={an unusual pigmentary disorder in a boy with epileptic encephalopathy and progressive atrophy of the central nervous system$da novel entity?},
  year={2010},
  pages={495-500},
  language={eng},
  issn={1432-1076},
  volume={169},
  number={4},
  note={Published online: 26 August 2009 ; Gesehen am 19.04.2023},
  journal={European journal of pediatrics},
  doi={10.1007/s00431-009-1046-5},
}
@article{UBHD-68443630,
  author={He, Yinghong and Thriene, Kerstin and Boerries, Melanie and Haußer-Siller, Ingrid and Franzke, Claus-Werner and Busch, Hauke and Dengjel, Joern and Has, Cristina},
  title={Constitutional absence of epithelial integrin α3 impacts the composition of the cellular microenvironment of ILNEB keratinocytes},
  year={2018},
  pages={62-76},
  language={eng},
  issn={1569-1802},
  volume={74},
  note={Im Titel ist alpha als griechischer Buchstabe dargestellt ; Gesehen am 22.10.2019},
  journal={Matrix biology},
  doi={10.1016/j.matbio.2018.07.001},
}
@article{UBHD-68574402,
  author={He, Yinghong and Maier, Kristin and Leppert, Juna and Haußer-Siller, Ingrid and Schwieger-Briel, Agnes and Weibel, Lisa and Theiler, Martin and Kiritsi, Dimitra and Busch, Hauke and Boerries, Melanie and Hannula-Jouppi, Katariina and Heikkil{\"a}, Hannele and Tasanen, Kaisa and Castiglia, Daniele and Zambruno, Giovanna and Has, Cristina},
  title={Monoallelic mutations in the translation initiation codon of KLHL24 cause skin fragility},
  year={2016},
  pages={1395-1404},
  language={eng},
  issn={1537-6605},
  volume={99},
  number={6},
  note={Gesehen am 07.05.2020},
  journal={The American journal of human genetics},
  doi={10.1016/j.ajhg.2016.11.005},
}
@article{UBHD-68303855,
  author={Hotz, Alrun G{\"o}ntje and Haußer-Siller, Ingrid},
  title={Identification of mutations in SDR9C7 in six families with autosomal recessive congenital ichthyosis},
  year={2018},
  pages={e207-e209},
  language={eng},
  issn={1365-2133},
  volume={178},
  number={3},
  note={Accepted manuscript online: 14 September 2017 ; Gesehen am 11.09.2018},
  journal={British journal of dermatology},
  doi={10.1111/bjd.15994},
}
@article{UBHD-68429555,
  author={Hotz, Alrun G{\"o}ntje and Bourrat, Emmanuelle and Haußer-Siller, Ingrid},
  title={Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis},
  year={2018},
  pages={1305-1313},
  language={eng},
  issn={1098-1004},
  volume={39},
  number={10},
  note={Gesehen am 12.09.2019},
  journal={Human mutation},
  doi={10.1002/humu.23594},
}
@article{UBHD-68149755,
  author={Hotz, Alrun G{\"o}ntje and Haußer-Siller, Ingrid},
  title={Two novel mutations in the LOR gene in three families with loricrin keratoderma},
  year={2015},
  pages={1158-1162},
  language={eng},
  issn={1365-2133},
  volume={172},
  number={4},
  note={Gesehen am 14.08.2017},
  journal={British journal of dermatology},
  doi={10.1111/bjd.13414},
}
@book{UBHD-68722053,
  author={Janeway, Charles A. <Jr.> and Travers, Paul},
  title={Immunologie},
  publisher={Spektrum Akadem. Verl.},
  address={Heidelberg [u.a.]},
  year={1995},
  pages={XVII, 634 S.},
  language={ger},
  isbn={3-86025-266-6 and 3-86025-253-4 and 978-3-86025-266-6 and 978-3-86025-253-6},
  series={Spektrum-Lehrbuch},
  note={Literaturangaben},
  keywords={Immunologie ; Immunologie},
}
@article{UBHD-68726187,
  author={Kapitein, Nicole and B{\"o}nemann, Gabriele and Pietrosiuk, Aleksandra and Seyffer, Fabian and Haußer-Siller, Ingrid and Krijnse-Locker, Jacomine and Mogk, Axel},
  title={ClpV recycles VipA/VipB tubules and prevents non-productive tubule formation to ensure efficient type VI protein secretion},
  year={2013},
  pages={1013-1028},
  language={eng},
  issn={1365-2958},
  volume={87},
  number={5 vom: M{\"a}rz},
  note={Gesehen am 21.04.2021},
  journal={Molecular microbiology},
  doi={10.1111/mmi.12147},
}
@article{UBHD-68296095,
  author={Khnykin, Denis and Rønnevig, Jørgen and Haußer-Siller, Ingrid},
  title={Ichthyosis prematurity syndrome},
  subtitle={clinical evaluation of 17 families with a rare disorder of lipid metabolism},
  year={2012},
  pages={606-616},
  language={eng},
  issn={1097-6787},
  volume={66},
  number={4},
  note={Published online August 22, 2011 ; Gesehen am 16.08.2018},
  journal={Journal of the American Academy of Dermatology},
  doi={10.1016/j.jaad.2011.04.014},
}
@article{UBHD-68015345,
  author={Kirchmeier, Peter and Haußer-Siller, Ingrid},
  title={Novel mutation in the CLDN1 gene in a Turkish family with neonatal ichthyosis sclerosing cholangitis (NISCH) syndrome},
  year={2014},
  pages={976-978},
  language={eng},
  issn={1365-2133},
  volume={170},
  number={4},
  note={Gesehen am 08.08.2016},
  journal={British journal of dermatology},
  doi={10.1111/bjd.12724},
}
@article{UBHD-68021936,
  author={Kiritsi, Dimitra and Haußer-Siller, Ingrid},
  title={Whole-exome sequencing in patients with ichthyosis reveals modifiers associated with increased IgE levels and allergic sensitizations},
  subtitle={letter to the editor},
  year={2015},
  pages={280-283},
  language={eng},
  issn={1097-6825},
  volume={135},
  number={1},
  note={Gesehen am 26.08.2016},
  journal={The journal of allergy and clinical immunology},
  doi={10.1016/j.jaci.2014.09.042},
}
@article{UBHD-68251078,
  author={Kloss, Manja and Grond-Ginsbach, Caspar and Ringleb, Peter A. and Haußer-Siller, Ingrid and Hacke, Werner and Brandt, Tobias},
  title={Recurrence of cervical artery dissection},
  subtitle={an underestimated risk},
  year={2018},
  pages={e1372-e1378},
  language={eng},
  issn={1526-632X},
  volume={90},
  number={16},
  note={Gesehen am 09.05.2018 ; Objective: To explore the recurrence of cervical artery dissection (CeAD). Methods: A single-center consecutive series of 282 CeAD patients was prospectively recruited during first admission from 1995 to 2012. Patients with a follow-up of at least 1 year (n = 238) were eligible for the current analysis. All patients with clinical symptoms or signs of recurrent CeAD on ultrasound were examined by MRI. Dermal connective tissue morphology was studied in 108 (45.4%) patients. Results: Median follow-up was 52 months (range 12 – 204 months). In all, 221 (92.8%) patients presented with monophasic CeAD, including 188 (79.0%) patients with a single CeAD event, 11 (4.6%) with simultaneous dissections in multiple cervical arteries, and 22 (9.2%) with subsequent events within a single phase of 4 weeks. Seventeen patients (7.1%) had late (>1 month after the initial event) recurrent CeAD events, including 5 (2.1%) with multiple recurrences. Patients with late recurrences were younger (37.5 ± 6.9 years) than those without (43.8 ± 9.9; p = 0.011). Ischemic stroke ccurred in 164 (68.9%) patients at first diagnosis, but only 4 of 46 (8.7%) subsequent events caused stroke (p< 0.0001), while 19 (41.3%) were asymptomatic. Connective tissue abnormalities were found in 54 (56.3%) patients with monophasic and 8 (66.7%) with late recurrent dissections (p= 0.494). Conclusion: Twenty-two (9.2%) patients had new CeAD events within 1 month and 17 (7.1%) later recurrences. The risk for new events was significantly higher (about 60-fold) during the acute phase than during later follow-up. Connective tissue abnormalities were not more frequent in patients with late recurrent events than in those with monophasic CeAD},
  journal={Neurology},
  doi={10.1212/WNL.0000000000005324},
}
@article{UBHD-69126383,
  author={K{\"o}nig, Insa and Haußer-Siller, Ingrid and Anton-Lamprecht, Ingrun and Schroeter, Renate and Petzoldt, Detlef},
  title={Hyalinosis cutis et mucosae and Ehlers-Danlos syndrome},
  subtitle={a rare combination of syndromes},
  year={1994},
  pages={108-112},
  language={eng},
  issn={1432-1173},
  volume={45},
  number={2},
  note={Gesehen am 04.10.2023},
  journal={Der Hautarzt},
  doi={10.1007/s001050050049},
}
@article{UBHD-69361970,
  author={Komlosi, Katalin and Glocker, Cristina and Hsu-Rehder, Hao-Hsiang and Alter, Svenja and Kopp, Julia and Hotz, Alrun and Zimmer, Andreas David and Haußer-Siller, Ingrid and Sandhoff, Roger and Oji, Vinzenz and Fischer, Judith},
  title={Autosomal dominant lamellar ichthyosis due to a missense variant in the gene NKPD1},
  year={2024},
  pages={16 S.},
  language={eng},
  issn={1523-1747},
  volume={144},
  note={Online verf{\"u}gbar 18 April 2024, Version des Artikels 20 November 2024 ; Gesehen am 02.07.2025},
  journal={The journal of investigative dermatology},
  doi={10.1016/j.jid.2024.03.041},
}
@article{UBHD-68882372,
  author={Komlosi, Katalin and Claris, Olivier and Collardeau-Frachon, Sophie and Kopp, Julia and Haußer-Siller, Ingrid and Mazereeuw-Hautier, Juliette and Jonca, Nathalie and Zimmer, Andreas D. and Sanlaville, Damien and Fischer, Judith},
  title={Fatal neonatal DOLK-CDG as a rare form of syndromic ichthyosis},
  year={2021},
  pages={1-12},
  language={eng},
  issn={1664-8021},
  volume={12},
  number={Artikel-ID 719624},
  note={Gesehen am 24.02.2022},
  journal={Frontiers in genetics},
}
@article{UBHD-68718208,
  author={Krieg, Peter and Rosenberger, Sabine and Juanes, Silvia de and Latzko, Susanne and Hou, Jin and Dick, Angela and Kloz, Ulrich and van der Hoeven, Frank and Haußer-Siller, Ingrid and Esposito, Irene and Rauh, Manfred and Schneider, Holm},
  title={Aloxe3 knockout mice reveal a function of epidermal lipoxygenase-3 as hepoxilin synthase and its pivotal role in barrier formation},
  year={2013},
  pages={172-180},
  language={eng},
  issn={1523-1747},
  volume={133},
  number={1},
  note={Published online 26 July 2012 ; Gesehen am 31.03.2021},
  journal={The journal of investigative dermatology},
  doi={10.1038/jid.2012.250},
}
@article{UBHD-68426771,
  author={K{\"u}hl, Tobias Hans-J{\"u}rgen and Haußer-Siller, Ingrid},
  title={Collagen VII half-life at the dermal-epidermal junction zone},
  subtitle={implications for mechanisms and therapy of genodermatoses},
  year={2016},
  pages={1116-1123},
  language={eng},
  issn={1523-1747},
  volume={136},
  number={6},
  note={Gesehen am 04.09.2019},
  journal={The journal of investigative dermatology},
  doi={10.1016/j.jid.2016.02.002},
}
@article{UBHD-68077943,
  author={K{\"u}hl, Tobias Hans-J{\"u}rgen and Haußer-Siller, Ingrid},
  title={High local concentrations of intradermal MSCs restore skin integrity and facilitate wound healing in dystrophic epidermolysis bullosa},
  year={2015},
  pages={1368-1379},
  language={eng},
  issn={2329-0501},
  volume={23},
  number={8},
  note={Gesehen am 27.01.2017},
  journal={Molecular therapy},
  doi={10.1038/mt.2015.58},
}
@article{UBHD-68884937,
  author={Lill, Christina Maria and G{\"u}nther-Kunkel, Kristin and Hoch, Heinrich and Paul, Friedemann and Grond-Ginsbach, Caspar and Haußer-Siller, Ingrid and Zipp, Frauke},
  title={Bilateral vertebral artery dissection, agenesis of both ICAs, and connective tissue aberrations},
  year={2013},
  pages={1442-1443},
  language={eng},
  issn={1526-632X},
  volume={80},
  number={15 vom: Apr.},
  note={Gesehen am 03.03.2022},
  journal={Neurology},
  doi={10.1212/WNL.0b013e31828c2f8e},
}
@article{UBHD-68088494,
  author={Lindert, Uschi and Haußer-Siller, Ingrid},
  title={Molecular consequences of the SERPINH1/HSP47 mutation in the dachshund natural model of osteogenesis imperfecta},
  year={2015},
  pages={17679-17689},
  language={eng},
  issn={1083-351X},
  volume={290},
  number={29},
  note={Gesehen am 23.02.2017},
  journal={The journal of biological chemistry},
  doi={10.1074/jbc.M115.661025},
}
@article{UBHD-69355674,
  author={Li, Shu and Li, Hao and Bennewitz, Katrin and Poschet, Gernot and B{\"u}ttner, Michael and Haußer-Siller, Ingrid and Szendr{\"o}di, Julia and Nawroth, Peter Paul and Kroll, Jens},
  title={Combined loss of glyoxalase 1 and aldehyde dehydrogenase 3a1 amplifies dicarbonyl stress, impairs proteasome activity resulting in hyperglycemia and activated retinal angiogenesis},
  year={2025},
  pages={1-16},
  language={eng},
  issn={1532-8600},
  volume={165(2025) vom: Apr.},
  number={Artikel-ID 156149},
  note={Online verf{\"u}gbar: 30. Januar 2025, Artikelversion: 11. Februar 2025 ; Gesehen am 12.06.2025},
  journal={Metabolism},
  doi={10.1016/j.metabol.2025.156149},
}
@article{UBHD-68701997,
  author={Li, Xiaogang and Schm{\"o}hl, Felix and Qi, Haozhe and Bennewitz, Katrin and Tabler, Christoph Tobias and Poschet, Gernot and Hell, R{\"u}diger and Volk, Nadine and Poth, Tanja and Haußer-Siller, Ingrid and Morgenstern, Jakob and Fleming, Thomas and Nawroth, Peter Paul and Kroll, Jens},
  title={Regulation of gluconeogenesis by Aldo-keto-reductase 1a1b in zebrafish},
  year={2020},
  pages={29 S.},
  language={eng},
  issn={2589-0042},
  volume={23(2020},
  note={Gesehen am 22.02.2021},
  journal={iScience},
  doi={10.1016/j.isci.2020.101763},
}
@article{UBHD-67671074,
  author={Ludwig-Peitsch, Wiebke and Orouji, Azadeh and Haußer-Siller, Ingrid and Goerdt, Sergij},
  title={Annular atrophic plaques on the face in a father and a son},
  subtitle={Christianson's Disease, a real entity?},
  year={2014},
  pages={100-101},
  language={eng},
  issn={1651-2057},
  volume={94},
  number={1},
  note={Gesehen am 08.09.2014},
  journal={Acta dermato-venereologica},
  doi={10.2340/00015555-1604},
}
@article{UBHD-68750136,
  author={Malfait, Fransiska and Kariminejad, Ariana and Van Damme, Tim and Gauche, Caroline and Syx, Delfien and Merhi-Soussi, Faten and Gulberti, Sandrine and Symoens, Sofie and Vanhauwaert, Suzanne and Willaert, Andy and Bozorgmehr, Bita and Kariminejad, Mohamad Hasan and Ebrahimiadib, Nazanin and Haußer-Siller, Ingrid and Huysseune, Ann and Fournel-Gigleux, Sylvie and De Paepe, Anne},
  title={Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder},
  year={2013},
  pages={935-945},
  language={eng},
  issn={1537-6605},
  volume={92},
  number={6},
  note={Gesehen am 17.08.2021},
  journal={The American journal of human genetics},
  doi={10.1016/j.ajhg.2013.04.016},
}
@article{UBHD-68247062,
  author={Martinelli, Diego and Haußer-Siller, Ingrid},
  title={Understanding pyrroline-5-carboxylate synthetase deficiency},
  subtitle={clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine},
  year={2012},
  pages={761-776},
  language={eng},
  issn={1573-2665},
  volume={35},
  number={5},
  note={Published online: 15 December 2011 ; Gesehen am 26.04.2018},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-011-9411-8},
}
@article{UBHD-68559260,
  author={Mencía, Ángeles and Chamorro, Cristina and Bonafont, Jose and Duarte, Blanca and Holguin, Almudena and Illera, Nuria and Llames, Sara G. and Escámez, Maria José and Haußer-Siller, Ingrid and Del Río, Marcela and Larcher, Fernando and Murillas, Rodolfo},
  title={Deletion of a pathogenic mutation-containing exon of COL7A1 allows clonal gene editing correction of RDEB patient epidermal stem cells},
  year={2018},
  pages={68-78},
  language={eng},
  issn={2162-2531},
  volume={11},
  note={Gesehen am 30.03.2020},
  journal={Molecular therapy},
  doi={10.1016/j.omtn.2018.01.009},
}
@article{UBHD-68722410,
  author={Morcher, Marion and Haußer-Siller, Ingrid and Brandt, Tobias and Grond-Ginsbach, Caspar},
  title={Heterozygous carriers of Pseudoxanthoma elasticum were not found among patients with cervical artery dissections},
  year={2003},
  pages={983-986},
  language={eng},
  issn={1432-1459},
  volume={250},
  number={8},
  note={Gesehen am 12.04.2021},
  journal={Journal of neurology},
  doi={10.1007/s00415-003-1139-4.},
}
@article{UBHD-68719760,
  author={M{\"u}ller, F. B. and Haußer-Siller, Ingrid and Berg, D. and Casper, C. and Maiwald, R. and Jung, A. and Jung, H. and Korge, Bernhard P.},
  title={Genetic analysis of a severe case of Netherton syndrome and application for prenatal testing},
  year={2002},
  pages={495-499},
  language={eng},
  issn={1365-2133},
  volume={146},
  number={3 vom: M{\"a}rz},
  note={Gesehen am 01.04.2021},
  journal={British journal of dermatology},
  doi={10.1046/j.1365-2133.2002.04625.x},
}
@book{UBHD-66782613,
  author={Murphy, Kenneth M. and Travers, Paul and Walport, Mark and Ehrenstein, Michael and Murphy, Kenneth P.},
  title={Janeway - Immunologie},
  edition={7. Aufl.},
  publisher={Spektrum Akademischer Verlag},
  address={Heidelberg},
  year={2009},
  pages={XXVI, 1093 S.},
  language={ger},
  isbn={978-3-8274-2047-3},
  note={Aus dem Engl. {\"u}bers},
  keywords={Immunologie ; Immunologie},
  library={UW [Signatur: G 18 b] ; UW [Signatur: Imm 2/7:a] ; UW [Signatur: Imm 2/7:b] ; UW [Signatur: Imm 2/7:c] ; UW [Signatur: Imm 2/7:d] ; UW [Signatur: Imm 2/7:e] ; UW [Signatur: Imm 2/7:f] ; UW [Signatur: Imm 2/7:g] ; UW [Signatur: Imm 2/7:h] ; UW [Signatur: Imm 2/7:i] ; UW [Signatur: Imm 2/7:j]},
}
@book{UBHD-68718969,
  author={Murphy, Kenneth M. and Travers, Paul and Walport, Mark},
  title={Janeway Immunologie},
  edition={7., Auflage, korrigierter Nachdruck 2014},
  publisher={Springer Spektrum},
  address={Berlin ; Heidelberg},
  year={2014},
  pages={XXVI, 1093 Seiten},
  language={ger},
  isbn={3-662-44227-2 and 978-3-662-44227-2},
  note={Literaturangaben},
  keywords={Immunologie},
}
@article{UBHD-68805921,
  author={Nystr{\"o}m, Alexander and Buttgereit, Jens and Bader, Michael and Shmidt, Tatiana and {\"O}zcelik, Cemil and Haußer-Siller, Ingrid and Bruckner-Tuderman, Leena and Kern, Johannes S.},
  title={Rat model for dominant dystrophic epidermolysis bullosa},
  subtitle={glycine substitution reduces collagen VII stability and shows gene-dosage effect},
  year={2013},
  pages={1-8},
  language={eng},
  issn={1932-6203},
  volume={8},
  note={Gesehen am 29.11.2021},
  journal={PLOS ONE},
  doi={10.1371/journal.pone.0064243},
}
@article{UBHD-69084356,
  author={Oji, Vinzenz and Eckl, Katja-Martina and Aufenvenne, Karin and N{\"a}tebus, Marc and Tarinski, Tatjana and Ackermann, Katharina and Seller, Natalia and Metze, Dieter and N{\"u}rnberg, Gudrun and F{\"o}lster-Holst, Regina and Sch{\"a}fer-Korting, Monika and Haußer-Siller, Ingrid and Traupe, Heiko and Hennies, Hans Christian},
  title={Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy},
  subtitle={unraveling the peeling skin disease},
  year={2010},
  pages={274-281},
  language={eng},
  issn={1537-6605},
  volume={87},
  number={2 vom: 13. Aug.},
  note={Gesehen am 12.06.2023},
  journal={The American journal of human genetics},
  doi={10.1016/j.ajhg.2010.07.005},
}
@article{UBHD-69084377,
  author={Oji, Vinzenz and Tadini, Gianluca and Akiyama, Masashi and Blanchet Bardon, Claudine and Bodemer, Christine and Bourrat, Emmanuelle and Coudiere, Philippe and DiGiovanna, John J. and Elias, Peter and Fischer, Judith and Fleckman, Philip and Gina, Michal and Harper, John and Hashimoto, Takashi and Haußer-Siller, Ingrid and Hennies, Hans Christian and Hohl, Daniel and Hovnanian, Alain and Ishida-Yamamoto, Akemi and Jacyk, Witold K. and Leachman, Sancy and Leigh, Irene and Mazereeuw-Hautier, Juliette and Milstone, Leonard and Morice-Picard, Fanny and Paller, Amy S. and Richard, Gabriele and Schmuth, Matthias and Shimizu, Hiroshi and Sprecher, Eli and Van Steensel, Maurice and Taïeb, Alain and Toro, Jorge R. and Vabres, Pierre and Vahlquist, Anders and Williams, Mary and Traupe, Heiko},
  title={Revised nomenclature and classification of inherited ichthyoses},
  subtitle={results of the first ichthyosis consensus conference in Sorèze 2009},
  year={2010},
  pages={607-641},
  language={eng},
  issn={1097-6787},
  volume={63},
  number={4 vom: Okt.},
  note={Gesehen am 12.06.2023},
  journal={Journal of the American Academy of Dermatology},
  doi={10.1016/j.jaad.2009.11.020},
}
@article{UBHD-68305353,
  author={Oji, Vinzenz and Haußer-Siller, Ingrid},
  title={S1 guidelines for the diagnosis and treatment of ichthyoses},
  subtitle={update},
  year={2017},
  pages={1053-1065},
  language={eng},
  issn={1610-0387},
  volume={15},
  number={10},
  note={Gesehen am 17.09.2018},
  journal={Journal der Deutschen Dermatologischen Gesellschaft},
  doi={10.1111/ddg.13340},
}
@article{UBHD-69132567,
  author={Paepe, A. de and Nuytinck, L. and Haußer-Siller, Ingrid and Anton-Lamprecht, Ingrun and Naeyaert, J. M.},
  title={Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II},
  year={1997},
  pages={547-554},
  language={eng},
  issn={0002-9297},
  volume={60},
  number={3},
  journal={American journal of human genetics},
}
@article{UBHD-68719703,
  author={Pein, Florian von and V{\"a}lkkil{\"a}, Merja and Schwarz, Ralf and Morcher, Marion and Klima, Bernhard and Grau, Armin J. and Ala-Kokko, Leena and Haußer-Siller, Ingrid and Brandt, Tobias and Grond-Ginsbach, Caspar},
  title={Analysis of the COL3A1 gene in patients with spontaneous cervical artery dissections},
  year={2002},
  pages={862-866},
  language={eng},
  issn={1432-1459},
  volume={249},
  number={7},
  note={Gesehen am 01.04.2021},
  journal={Journal of neurology},
  doi={10.1007/s00415-002-0745-x},
}
@article{UBHD-68863889,
  author={Perusquía Ortiz, Ana María and Oji, V. and Sauerland, M.c. and Tarinski, T. and Zaraeva, I. and Seller, N. and Metze, D. and Aufenvenne, K. and Haußer-Siller, Ingrid and Traupe, H.},
  title={Complete filaggrin deficiency in ichthyosis vulgaris is associated with only moderate changes in epidermal permeability barrier function profile},
  year={2013},
  pages={1552-1558},
  language={eng},
  issn={1468-3083},
  volume={27},
  number={12},
  note={Gesehen am 10.01.2022},
  journal={Journal of the European Academy of Dermatology and Venereology},
  doi={10.1111/jdv.12079},
}
@article{UBHD-68719764,
  author={Pezzini, Alessandro and Haußer-Siller, Ingrid and Brandt, Tobias and Padovani, Alessandro and Grond-Ginsbach, Caspar},
  title={Internal carotid artery dissection after French horn playing},
  subtitle={spontaneous or traumatic event? : Letter to the editors},
  year={2003},
  pages={1004-1005},
  language={eng},
  issn={1432-1459},
  volume={250},
  number={8},
  note={Gesehen am 01.04.2021},
  journal={Journal of neurology},
}
@article{UBHD-69131798,
  author={Pigg, Maritta and Gedde-Dahl, Tobias and Cox, Diane and Haußer-Siller, Ingrid and Anton-Lamprecht, Ingrun and Dahl, Niklas},
  title={Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway},
  year={1998},
  pages={589-596},
  language={eng},
  issn={1476-5438},
  volume={6},
  number={6},
  note={Gesehen am 19.10.2023},
  journal={European journal of human genetics},
  doi={10.1038/sj.ejhg.5200224},
}
@article{UBHD-68997132,
  author={Pigors, Manuela and Kiritsi, Dimitra and Kr{\"u}mpelmann, Sebastian and Wagner, Nicola and He, Yinghong and Podda, Maurizio and Kohlhase, J{\"u}rgen and Haußer-Siller, Ingrid and Bruckner-Tuderman, Leena and Has, Cristina},
  title={Lack of plakoglobin leads to lethal congenital epidermolysis bullosa},
  subtitle={a novel clinico-genetic entity},
  year={2011},
  pages={1811-1819},
  language={eng},
  issn={1460-2083},
  volume={20},
  number={9},
  note={Gesehen am 14.12.2022},
  journal={Human molecular genetics},
  doi={10.1093/hmg/ddr064},
}
@article{UBHD-68683669,
  author={Pl{\"o}ger, Carolin and Huth, Thorben and Sugiyanto, Raisatun Nisa and Pusch, Stefan and Goeppert, Benjamin and Singer, Stephan and Tabti, Redouane and Haußer-Siller, Ingrid and Schirmacher, Peter and Désaubry, Laurent and R{\"o}ssler, Stephanie},
  title={Prohibitin, STAT3 and SH2D4A physically and functionally interact in tumor cell mitochondria},
  year={2020},
  pages={1-14},
  language={eng},
  issn={2041-4889},
  volume={11},
  note={Gesehen am 26.01.2021},
  journal={Cell death & disease},
  doi={10.1038/s41419-020-03220-3},
  url={https://doi.org/10.1038/s41419-020-03220-3},
  library={UB},
}
@article{UBHD-69131795,
  author={Pohl, Martin and Zimmerhackl, Lothar Bernd and Haußer-Siller, Ingrid and Ludwig, H. and Hildebrandt, F. and Gordjani, N. and Sutor, Anton H. and Anton-Lamprecht, Ingrun and Brandis, M.},
  title={Acute bilateral renal vein thrombosis complicating Netherton syndrome},
  year={1998},
  pages={157-160},
  language={eng},
  issn={1432-1076},
  volume={157},
  number={2},
  note={Gesehen am 19.10.2023},
  journal={European journal of pediatrics},
  doi={10.1007/s004310050789},
}
@article{UBHD-69166884,
  author={Qian, Xin and Klatt, Stephan and Bennewitz, Katrin and Wohlfart, David Philipp and Lou, Bowen and Meng, Ye and B{\"u}ttner, Michael and Poschet, Gernot and Morgenstern, Jakob and Fleming, Thomas and Sticht, Carsten and Haußer-Siller, Ingrid and Fleming, Ingrid and Szendr{\"o}di, Julia and Nawroth, Peter Paul and Kroll, Jens},
  title={Impaired Detoxification of Trans, Trans-2,4-Decadienal, an Oxidation Product from Omega-6 Fatty Acids, Alters Insulin Signaling, Gluconeogenesis and Promotes Microvascular Disease},
  year={2024},
  pages={1-17},
  language={eng},
  issn={2198-3844},
  volume={11},
  note={Online verf{\"u}gbar: 7. Dezember 2023 ; Gesehen am 29.01.2024},
  journal={Advanced science},
  doi={10.1002/advs.202302325},
}
@article{UBHD-68992846,
  author={Qi, Haozhe and Schm{\"o}hl, Felix and Li, Xiaogang and Qian, Xin and Tabler, Christoph Tobias and Bennewitz, Katrin and Sticht, Carsten and Morgenstern, Jakob and Fleming, Thomas and Volk, Nadine and Haußer-Siller, Ingrid and Heidenreich, Elena and Hell, R{\"u}diger and Nawroth, Peter Paul and Kroll, Jens},
  title={Reduced acrolein detoxification in akr1a1a zebrafish mutants causes impaired insulin receptor signaling and microvascular alterations},
  year={2021},
  pages={1-15},
  language={eng},
  issn={2198-3844},
  volume={8},
  note={Gesehen am 05.12.2022},
  journal={Advanced science},
  doi={10.1002/advs.202101281},
  url={https://doi.org/10.1002/advs.202101281},
  library={UB},
}
@article{UBHD-68657818,
  author={Rosenberger, Sabine and Haußer-Siller, Ingrid and Stark, Hans-J{\"u}rgen and Krieg, Peter},
  title={A mouse organotypic tissue culture model for autosomal recessive congenital ichthyosis},
  year={2014},
  pages={1347-1357},
  language={eng},
  issn={1365-2133},
  volume={171},
  number={6},
  note={Gesehen am 05.11.2020},
  journal={British journal of dermatology},
  doi={10.1111/bjd.13308},
}
@article{UBHD-68390713,
  author={Schlipf, Nina Ariane and Ludwig-Peitsch, Wiebke and Haußer-Siller, Ingrid and Schmieder, Astrid and Schneider, Stefan W.},
  title={Association of Cole disease with novel heterozygous mutations in the somatomedin-B domains of the ENPP1 gene},
  subtitle={necessary, but not always sufficient},
  year={2016},
  pages={1152-1156},
  language={eng},
  issn={1365-2133},
  volume={174},
  number={5},
  note={Gesehen am 17.05.2019 ; First published: 30 November 2015},
  journal={British journal of dermatology},
  doi={10.1111/bjd.14328},
}
@article{UBHD-68973935,
  author={Schmieder, Astrid and Haußer-Siller, Ingrid and Schneider, Stefan W. and Goerdt, Sergij and Peitsch, Wiebke},
  title={Palmoplantar hyperkeratoses and hypopigmentation},
  subtitle={a quiz},
  year={2011},
  pages={737-740},
  language={eng},
  issn={1651-2057},
  volume={91},
  note={Gesehen am 13.10.2022},
  journal={Acta dermato-venereologica},
  doi={10.2340/00015555-1122},
}
@article{UBHD-68978072,
  author={Scholz, Ina Maria and Haußer-Siller, Ingrid and Behnecke, Anne and Helmbold, Peter},
  title={Eine Familie mit dystropher Alopezie und Keratosis pilaris},
  year={2011},
  pages={1055-1056},
  language={eng},
  issn={1610-0387},
  volume={9},
  number={12 vom: Dez.},
  note={First published: 28 November 2011 ; Gesehen am 25.10.2022},
  journal={Journal der Deutschen Dermatologischen Gesellschaft},
  doi={10.1111/j.1610-0387.2011.07792.x},
}
@article{UBHD-68763255,
  author={Schumann, Hauke and Kiritsi, D. and Pigors, M. and Haußer-Siller, Ingrid and Kohlhase, J. and Peters, J. and Ott, H. and Hyla-Klekot, L. and Gacka, E. and Sieron, A. L. and Valari, M. and Bruckner-Tuderman, L. and Has, C.},
  title={Phenotypic spectrum of epidermolysis bullosa associated with α6β4 integrin mutations},
  year={2013},
  pages={115-124},
  language={eng},
  issn={1365-2133},
  volume={169},
  number={1},
  note={Gesehen am 26.07.2021},
  journal={British journal of dermatology},
  doi={10.1111/bjd.12317},
}
@article{UBHD-68974836,
  author={Schwab, Constantin and Domke, Lisa Maria and Rose, Fabian and Haußer-Siller, Ingrid and Schirmacher, Peter and Longerich, Thomas},
  title={Cell tropism and viral clearance during SARS-CoV-2 lung infection},
  year={2022},
  pages={1-7},
  language={eng},
  issn={1618-0631},
  volume={236},
  number={Artikel-ID 154000},
  note={Gesehen am 17.10.2022},
  journal={Pathology, research and practice},
  doi={10.1016/j.prp.2022.154000},
}
@article{UBHD-68586126,
  author={Schwarz, Daniel and Hidmark, Asa S. and Sturm, Volker J{\"o}rg Friedrich and Fischer, Manuel and Milford, David and Haußer-Siller, Ingrid and Sahm, Felix and Breckwoldt, Michael O. and Agarwal, Nitin and Kuner, Rohini and Bendszus, Martin and Nawroth, Peter Paul and Heiland, Sabine and Fleming, Thomas},
  title={Characterization of experimental diabetic neuropathy using multicontrast magnetic resonance neurography at ultra high field strength},
  year={2020},
  pages={12 S.},
  language={eng},
  issn={2045-2322},
  volume={10(2020) Artikel-Nummer 7593},
  number={12 Seiten},
  note={Gesehen am 10.06.2020},
  journal={Scientific reports},
  doi={10.1038/s41598-020-64585-1},
}
@book{UBHD-68722038,
  author={Singer, Maxine and Berg, Paul and Doerfler, Walter},
  title={Gene und Genome},
  publisher={Spektrum, Akad. Verl.},
  address={Heidelberg [u.a.]},
  year={1992},
  pages={XXIII, 896 Seiten},
  language={ger},
  isbn={3-86025-001-9 and 978-3-86025-001-3},
  note={Literaturangaben},
  keywords={Molekulargenetik},
}
@article{UBHD-68938943,
  author={Smith, Blake and Nystr{\"o}m, Alexander and Nowell, Cameron J. and Haußer-Siller, Ingrid and Gretzmeier, Christine and Robertson, Susan J. and Varigos, George A. and Has, Cristina and Kern, Johannes S. and Pang, Ken C.},
  title={Mouse models for dominant dystrophic epidermolysis bullosa carrying common human point mutations recapitulate the human disease},
  year={2021},
  pages={1-9},
  language={eng},
  issn={1754-8411},
  volume={14},
  note={Gesehen am 07.07.2022},
  journal={Disease models & mechanisms},
  doi={10.1242/dmm.048082},
}
@article{UBHD-68262808,
  author={S{\"u}ßmuth, Kira and Haußer-Siller, Ingrid},
  title={Increased prevalence of filaggrin deficiency in 51 patients with recessive X-linked ichthyosis presenting for dermatological examination},
  year={2018},
  pages={709-711},
  language={eng},
  issn={1523-1747},
  volume={138},
  number={3},
  note={Gesehen am 19.06.2018 ; Accepted manuscript published online 17 October 2017 and corrected proof published online 1 February 2018},
  journal={The journal of investigative dermatology},
  doi={10.1016/j.jid.2017.08.047},
}
@article{UBHD-68404329,
  author={S{\"u}ßmuth, Kira and Haußer-Siller, Ingrid},
  title={Neue Therapieans{\"a}tze f{\"u}r entz{\"u}ndliche und bull{\"o}se Formen kongenitaler Ichthyosen},
  subtitle={erste klinische Erfahrungen},
  year={2019},
  pages={12-15},
  language={ger},
  issn={1610-0387},
  volume={17},
  note={Gesehen am 04.07.2019},
  journal={Journal der Deutschen Dermatologischen Gesellschaft},
  doi={10.1111/ddg.13782},
}
@article{UBHD-68132872,
  author={Syx, Delfien and Haußer-Siller, Ingrid},
  title={Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesis},
  year={2015},
  pages={535-547},
  language={eng},
  issn={1098-1004},
  volume={36},
  number={5},
  note={Gesehen am 30.06.2017},
  journal={Human mutation},
  doi={10.1002/humu.22774},
}
@article{UBHD-69032599,
  author={Tabler, Christoph Tobias and Lodd, Elisabeth and Bennewitz, Katrin and Middel, Chiara Simone and Erben, Vanessa and Schr{\"o}der, Hannes and Poth, Tanja and Fleming, Thomas and Morgenstern, Jakob and Haußer-Siller, Ingrid and Sticht, Carsten and Poschet, Gernot and Szendr{\"o}di, Julia and Nawroth, Peter Paul and Kroll, Jens},
  title={Loss of glyoxalase 2 alters the glucose metabolism in zebrafish},
  year={2023},
  pages={1-15},
  language={eng},
  issn={2213-2317},
  volume={59(2023) vom: Feb.},
  number={Artikel-ID 102576},
  note={Online ver{\"o}ffentlicht am 14. Dezember 2022, Dateiversion vom 17. Dezember 2022 ; Gesehen am 01.02.2023},
  journal={Redox Biology},
  doi={10.1016/j.redox.2022.102576},
}
@article{UBHD-68264797,
  author={Toberer, Ferdinand and Schneiderbauer, Roland and Haußer-Siller, Ingrid and Kr{\"o}hl, Verena and Epple, Andreas and Moog, Ute and Enk, Alexander and Lonsdorf, Anke Susanne},
  title={At first sight or second glance},
  subtitle={clinical presentation of mosaic manifestations of autosomal dominant skin disorders : a case series},
  year={2017},
  pages={1912-1915},
  language={eng},
  issn={1468-3083},
  volume={31},
  number={11},
  note={First published: 25 March 2017 ; Gesehen am 25.06.2018},
  journal={Journal of the European Academy of Dermatology and Venereology},
  doi={10.1111/jdv.14242},
}
@article{UBHD-68720706,
  author={Torres Crigna, Adriana and Fricke, Fabia and Nitschke, Katja and Worst, Thomas and Erb, Ulrike and Karremann, Michael and Buschmann, Dominik and Elvers-Hornung, Susanne and Tucher, Christine and Schiller, Martin and Haußer-Siller, Ingrid and Gebert, Johannes and Bieback, Karen},
  title={Inter-laboratory comparison of extracellular vesicle isolation based on ultracentrifugation},
  year={2021},
  pages={48-59},
  language={eng},
  issn={1660-3818},
  volume={48},
  number={1},
  note={Published online: July 8, 2020 ; Gesehen am 08.09.2021},
  journal={Transfusion medicine and hemotherapy},
  doi={10.1159/000508712},
}
@article{UBHD-68389686,
  author={Trah, Julian and Haußer-Siller, Ingrid},
  title={Integra®-Dermal Regeneration Template and split-thickness skin grafting},
  subtitle={a therapy approach to correct aplasia cutis congenita and epidermolysis bullosa in carmi syndrome},
  year={2018},
  pages={313-321},
  language={eng},
  issn={2190-9172},
  volume={8},
  number={2},
  note={Gesehen am 14.05.2019 ; Nach "Integra" und vor dem Bindestrich ist hochgestellt ein "R" mit Kreis herum},
  journal={Dermatology and therapy},
  doi={10.1007/s13555-018-0237-2},
}
@article{UBHD-69160689,
  author={Trindade, Felicidade and Fiadeiro, Teresa and Torrelo, Antonio and Hennies, Hans Christian and Haußer-Siller, Ingrid and Traupe, Heiko},
  title={Bathing suit ichthyosis},
  year={2010},
  pages={447-450},
  language={eng},
  issn={1952-4013},
  volume={20},
  number={4 vom: Juli/Aug.},
  note={Gesehen am 12.01.2024},
  journal={European journal of dermatology},
  doi={10.1684/ejd.2010.1008},
}
@article{UBHD-68090519,
  author={Valentin, Frederic and Haußer-Siller, Ingrid},
  title={Increased expression of caspase-1 and interleukin-18 in peeling skin disease, and a novel mutation of corneodesmosin},
  year={2015},
  pages={1019-1021},
  language={eng},
  issn={1651-2057},
  volume={95},
  number={8},
  note={Gesehen am 01.03.2017},
  journal={Acta dermato-venereologica},
  doi={10.2340/00015555-2142},
}
@article{UBHD-68275378,
  author={Van Damme, Tim and Haußer-Siller, Ingrid and Thiel, Christian and Korenke, Christoph},
  title={Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa},
  year={2017},
  pages={216-227},
  language={eng},
  issn={1537-6605},
  volume={100},
  number={2},
  note={Available online 5 January 2017 ; Gesehen am 05.07.2018},
  journal={The American journal of human genetics},
  doi={10.1016/j.ajhg.2016.12.010},
}
@article{UBHD-68378445,
  author={Weberschock, Tanja and Haußer-Siller, Ingrid and Gholam, Patrick and Hartmann, Martin},
  title={Generalisierte erythrosquam{\"o}se Dermatose},
  year={2012},
  pages={5 S.},
  language={ger},
  issn={1432-1173},
  volume={63},
  note={Gesehen am 04.04.2019},
  journal={Der Hautarzt},
  doi={10.1007/s00105-011-2277-8},
}
@article{UBHD-67900090,
  author={Weingart, Christiane and Haußer-Siller, Ingrid},
  title={Ehlers-Danlos-like-Syndrom bei einer Katze},
  year={2014},
  pages={543-548},
  language={ger},
  issn={1664-2848},
  volume={156},
  number={11},
  note={Gesehen am 10.11.2015},
  journal={Schweizer Archiv f{\"u}r Tierheilkunde},
  doi={10.1024/0036-7281/a000645},
}
@article{UBHD-68795790,
  author={Wendorff, Heiko and Pelisek, Jaroslav and Zimmermann, Alexander and Mayer, Karin and Seidel, Heide and Weirich, Gregor and Haußer-Siller, Ingrid and Siegel, Corinna and Zernecke, Alma and Eckstein, Hans-Henning},
  title={Early venous manifestation of Ehlers-Danlos syndrome Type IV through a novel mutation in COL3A1},
  year={2013},
  pages={488-492},
  language={eng},
  issn={1879-1336},
  volume={22},
  number={6},
  note={Gesehen am 02.11.2021},
  journal={Cardiovascular pathology},
  doi={10.1016/j.carpath.2013.04.003},
}
@article{UBHD-69039837,
  author={Wiggenhauser, Lucas and Metzger, Lena and Bennewitz, Katrin and Soleymani Zaraj Abadi, Silas and Boger, Mike and Tabler, Christoph Tobias and Haußer-Siller, Ingrid and Sticht, Carsten and Wohlfart, Paulus and Volk, Nadine and Heidenreich, Elena and B{\"u}ttner, Michael and Hammes, Hans-Peter and Kroll, Jens},
  title={pdx1 knockout leads to a diabetic nephropathy-like phenotype in zebrafish and identifies phosphatidylethanolamine as metabolite promoting early diabetic kidney damage},
  year={2022},
  pages={1073-1080},
  language={eng},
  issn={1939-327X},
  volume={71},
  number={5 vom: Mai},
  note={Gesehen am 09.02.2023},
  journal={Diabetes},
  doi={10.2337/db21-0645},
}
@article{UBHD-68924871,
  author={Wohlfart, David Philipp and Lou, Bowen and Middel, Chiara Simone and Morgenstern, Jakob and Fleming, Thomas and Sticht, Carsten and Haußer-Siller, Ingrid and Hell, R{\"u}diger and Hammes, Hans-Peter and Szendr{\"o}di, Julia and Nawroth, Peter Paul and Kroll, Jens},
  title={Accumulation of acetaldehyde in aldh2.1-/- zebrafish causes increased retinal angiogenesis and impaired glucose metabolism},
  year={2022},
  pages={1-15},
  language={eng},
  issn={2213-2317},
  volume={50(2022) vom: Apr.},
  number={Artikel-ID 102249},
  note={Im Titel ist "-/-" hochgestellt ; Gesehen am 01.06.2022},
  journal={Redox Biology},
  doi={10.1016/j.redox.2022.102249},
}
@article{UBHD-68315306,
  author={Worst, Thomas and Hardenberg, Jost von and Groß, Julia Christina and Erben, Philipp and Schn{\"o}lzer, Martina and Haußer-Siller, Ingrid and Bugert, Peter and Michel, Maurice Stephan and Boutros, Michael},
  title={Database-augmented mass spectrometry analysis of exosomes identifies claudin 3 as a putative prostate cancer biomarker},
  year={2017},
  pages={998-1008},
  language={eng},
  issn={1535-9484},
  volume={16},
  number={6},
  note={Gesehen am 15.10.2018},
  journal={Molecular & cellular proteomics},
  doi={10.1074/mcp.M117.068577},
}
@article{UBHD-68487324,
  author={Zimmer, Andreas D. and Haußer-Siller, Ingrid},
  title={Corrigenda [Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function]},
  year={2018},
  pages={814-815},
  language={eng},
  issn={1365-2133},
  volume={178},
  number={3},
  note={First published: 29 March 2018 ; Gesehen am 11.02.2020},
  journal={British journal of dermatology},
  doi={10.1111/bjd.16353},
}
@article{UBHD-68296564,
  author={Zimmer, Andreas D. and Haußer-Siller, Ingrid},
  title={Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function},
  year={2017},
  pages={445-455},
  language={eng},
  issn={1365-2133},
  volume={177},
  number={2},
  note={Gesehen am 17.08.2018},
  journal={British journal of dermatology},
  doi={10.1111/bjd.15308},
}
@article{UBHD-68719724,
  author={Zimmermann, Thomas and Jappe, Uta and Haußer-Siller, Ingrid and Mechtersheimer, Gunhild and Hartschuh, Wolfgang},
  title={Persistent erythematous eyelid swelling due to metastatic lobular carcinoma of the breast},
  year={2002},
  pages={919},
  language={eng},
  issn={1365-2133},
  volume={146},
  number={5 vom: Mai},
  note={Gesehen am 01.04.2021},
  journal={British journal of dermatology},
  doi={10.1046/j.1365-2133.2002.04768.x},
}