Search Results - "Howaldt, Antonia"

Four novel mutations in EFNB1 in Indian patients with craniofrontonasal syndrome by Howaldt, Antonia, Nampoothiri, Sheela, Yesodharan, Dhanya, Udayakumaran, Suhas, Subash, Pramod, Kornak, Uwe

“…Craniofrontonasal syndrome (CFNS) (OMIM #304110) is a very rare, X-linked developmental disorder characterized by facial stigmata, including hypertelorism,…”
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Corneal Infantile Myofibromatosis Caused by Novel Activating Imatinib-Responsive Variants in PDGFRB by Howaldt, Antonia, Lenglez, Sandrine, Velmans, Clara, Schultheis, Anne Maria, Clahsen, Thomas, Matthaei, Mario, Kohlhase, Jürgen, Vokuhl, Christian, Büttner, Reinhard, Netzer, Christian, Demoulin, Jean-Baptiste, Cursiefen, Claus

“…To investigate the genetic cause, clinical characteristics, and potential therapeutic targets of infantile corneal myofibromatosis. Case series with genetic…”
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Adult osteosclerotic metaphyseal dysplasia with progressive osteonecrosis of the jaws and abnormal osteoclast resorption pattern due to a LRRK1 splice site mutation by Howaldt, Antonia, Hennig, Anna-Floriane, Rolvien, Tim, Rössler, Uta, Stelzer, Nina, Böttger, Sebastian, Zustin, Jozef, Oheim, Ralf, Geißler, Sven, Amling, Michael, Howaldt, Hans-Peter, Kornak, Uwe

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Corneal crosslinking ameliorates the extent of corneal oedema in subsequent acute keratoconus in an ex vivo model by Howaldt, Antonia, Zhang, Wei, Deng, Shuya, Becker, Martina, Hou, Yanhong, Clahsen, Thomas, Bock, Felix, Cursiefen, Claus

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Segmentation of the fibrillar layer in advanced fuchs endothelial corneal dystrophy: Inter‐oberserver‐reliability and intra‐observer‐repeatability analysis of corneal densitometry images by Howaldt, Antonia, Mestanoglu, Mert, Musial, Gwen, Jonas, Rahul, Cursiefen, Claus, Bachmann, Björn, Matthaei, Mario

“…Aims: Our previous studies state that a central subendothelial collagen‐rich fibrillar layer (FL) is present in about 80% of advanced Fuchs endothelial corneal…”
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Leadership from the perspective of next generation ophthalmologists by Howaldt, Antonia, Hamann, Max, Hohberger, Bettina, Schnichels, Sven

“…Managers in the healthcare system play a critical role in ensuring high quality patient care, optimization of resources, management of complex situations,…”
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Scheimpflug Backscatter Imaging of the Fibrillar Layer in Fuchs Endothelial Corneal Dystrophy by Hribek, Agathe, Mestanoglu, Mert, Clahsen, Thomas, Reinking, Niklas, Frentzen, Falk, Howaldt, Antonia, Siebelmann, Sebastian, Bachmann, Björn O., Cursiefen, Claus, Matthaei, Mario

“…A central collagen-rich subendothelial fibrillar layer (FL) correlates with areas of accentuated loss of corneal endothelial cells in advanced Fuchs…”
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Sclerosing bone dysplasias with hallmarks of dysosteosclerosis in four patients carrying mutations in SLC29A3 and TCIRG1 by Howaldt, Antonia, Nampoothiri, Sheela, Quell, Lisa-Marie, Ozden, Ayse, Fischer-Zirnsak, Björn, Collet, Corinne, de Vernejoul, Marie-Christine, Doneray, Hakan, Kayserili, Hülya, Kornak, Uwe

“…The osteopetroses and related sclerosing bone dysplasias can have a broad range of manifestations. Especially in the milder forms, sandwich vertebrae are an…”
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The novel role of lymphatic vessels in the pathogenesis of ocular diseases by Clahsen, Thomas, Hadrian, Karina, Notara, Maria, Schlereth, Simona L., Howaldt, Antonia, Prokosch, Verena, Volatier, Thomas, Hos, Deniz, Schroedl, Falk, Kaser-Eichberger, Alexandra, Heindl, Ludwig M., Steven, Philipp, Bosch, Jacobus J., Steinkasserer, Alexander, Rokohl, Alexander C., Liu, Hanhan, Mestanoglu, Mert, Kashkar, Hamid, Schumacher, Björn, Kiefer, Friedemann, Schulte-Merker, Stefan, Matthaei, Mario, Hou, Yanhong, Fassbender, Sonja, Jantsch, Jonathan, Zhang, Wei, Enders, Philip, Bachmann, Björn, Bock, Felix, Cursiefen, Claus

“…Historically, the eye has been considered as an organ free of lymphatic vessels. In recent years, however, it became evident, that lymphatic vessels or…”
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Adult Osteosclerotic Metaphyseal Dysplasia With Progressive Osteonecrosis of the Jaws and Abnormal Bone Resorption Pattern Due to a LRRK1 Splice Site Mutation by Howaldt, Antonia, Hennig, Anna Floriane, Rolvien, Tim, Rössler, Uta, Stelzer, Nina, Knaus, Alexej, Böttger, Sebastian, Zustin, Jozef, Geißler, Sven, Oheim, Ralf, Amling, Michael, Howaldt, Hans‐Peter, Kornak, Uwe

“…ABSTRACT Osteosclerotic metaphyseal dysplasia (OSMD) is a rare autosomal recessive sclerosing skeletal dysplasia. We report on a 34‐year‐old patient with…”
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The Cologne Clinician Scientist Programme (CCSP) by Howaldt, Antonia, Cursiefen, Claus, von Stebut, Esther

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Blood-Aqueous Barrier Disruption in Penetrating and Posterior Lamellar Keratoplasty: Implications for Clinical Outcome by Matthaei, Mario, Fassin, Anne, Mestanoglu, Mert, Howaldt, Antonia, Schrittenlocher, Silvia Andreea, Schlereth, Simona, Roters, Sigrid, Grajewski, Rafael S, Bachmann, Björn O, Cursiefen, Claus

“…The blood-aqueous barrier (BAB) separates immunoprivileged tissue of the eye from the blood circulation. Disruption of the BAB is therefore a risk factor for…”
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Correlation of Clinical Fibrillar Layer Detection and Corneal Thickness in Advanced Fuchs Endothelial Corneal Dystrophy by Özer, Orlando, Mestanoglu, Mert, Howaldt, Antonia, Clahsen, Thomas, Schiller, Petra, Siebelmann, Sebastian, Reinking, Niklas, Cursiefen, Claus, Bachmann, Björn, Matthaei, Mario

“…Central subendothelial geographic deposits are formed as a fibrillar layer (FL) in advanced Fuchs endothelial corneal dystrophy (FECD). Previous studies…”
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