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Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 04/2019, Volume 21, Issue 9, pp. 2103 - 2115
To identify the molecular cause in five unrelated families with a distinct autosomal dominant ocular systemic disorder we called ROSAH syndrome due to clinical... 
Fibroblasts | Retina | Index Medicus
Journal Article
by Ivezić, Željko and Kahn, Steven M and Tyson, J. Anthony and Abel, Bob and Acosta, Emily and Allsman, Robyn and Alonso, David and Alsayyad, Yusra and Anderson, Scott F and Andrew, John and Angel, James Roger P and Angeli, George Z and Ansari, Reza and Antilogus, Pierre and Araujo, Constanza and Armstrong, Robert and Arndt, Kirk T and Astier, Pierre and Aubourg, Eric and Auza, Nicole and Axelrod, Tim S and Bard, Deborah J and Barr, Jeff D and Barrau, Aurelian and Bartlett, James G and Bauer, Amanda E and Bauman, Brian J and Baumont, Sylvain and Bechtol, Ellen and Bechtol, Keith and Becker, Andrew C and Becla, Jacek and Beldica, Cristina and Bellavia, Steve and Bianco, Federica B and Biswas, Rahul and Blanc, Guillaume and Blazek, Jonathan and Blandford, Roger D and Bloom, Josh S and Bogart, Joanne and Bond, Tim W and Booth, Michael T and Borgland, Anders W and Borne, Kirk and Bosch, James F and Boutigny, Dominique and Brackett, Craig A and Bradshaw, Andrew and Brandt, William Nielsen and Brown, Michael E and Bullock, James S and Burchat, Patricia and Burke, David L and Cagnoli, Gianpietro and Calabrese, Daniel and Callahan, Shawn and Callen, Alice L and Carlin, Jeffrey L and Carlson, Erin L and Chandrasekharan, Srinivasan and Charles-Emerson, Glenaver and Chesley, Steve and Cheu, Elliott C and Chiang, Hsin-Fang and Chiang, James and Chirino, Carol and Chow, Derek and Ciardi, David R and Claver, Charles F and Cohen-Tanugi, Johann and Cockrum, Joseph J and Coles, Rebecca and Connolly, Andrew J and Cook, Kem H and Cooray, Asantha and Covey, Kevin R and Cribbs, Chris and Cui, Wei and Cutri, Roc and Daly, Philip N and Daniel, Scott F and Daruich, Felipe and Daubard, Guillaume and Daues, Greg and Dawson, William and Delgado, Francisco and Dellapenna, Alfred and Peyster, Robert De and Val-Borro, Miguel De and Digel, Seth W and Doherty, Peter and Dubois, Richard and Dubois-Felsmann, Gregory P and Durech, Josef and Economou, Frossie and Eifler, Tim and Eracleous, Michael and Emmons, Benjamin L and Neto, Angelo Fausti and ... and SLAC National Accelerator Lab., Menlo Park, CA (United States) and Brookhaven National Lab. (BNL), Upton, NY (United States)
Astrophysical Journal, ISSN 0004-637X, 03/2019, Volume 873, Issue 2, p. 111
Journal Article
by Tedja, Milly S and Wojciechowski, Robert and Hysi, Pirro G and Eriksson, Nicholas and Furlotte, Nicholas A and Verhoeven, Virginie J. M and Iglesias, Adriana I and Meester-Smoor, Magda A and Tompson, Stuart W and Fan, Qiao and Khawaja, Anthony P and Cheng, Ching-Yu and Höhn, René and Yamashiro, Kenji and Wenocur, Adam and Grazal, Clare and Haller, Toomas and Metspalu, Andres and Wedenoja, Juho and Jonas, Jost B and Wang, Ya Xing and Xie, Jing and Mitchell, Paul and Foster, Paul J and Klein, Barbara E. K and Klein, Ronald and Paterson, Andrew D and Hosseini, S. Mohsen and Shah, Rupal L and Williams, Cathy and Teo, Yik Ying and Tham, Yih Chung and Gupta, Preeti and Zhao, Wanting and Shi, Yuan and Saw, Woei-Yuh and Tai, E-Shyong and Sim, Xue Ling and Huffman, Jennifer E and Polašek, Ozren and Hayward, Caroline and Bencic, Goran and Rudan, Igor and Wilson, James F and Aung, Tin and Veluchamy, Amutha B and Burdon, Kathryn P and Campbell, Harry and Chen, Li Jia and Chen, Peng and Chen, Wei and Chew, Emily and Deangelis, Margaret M and Ding, Xiaohu and Döring, Angela and Evans, David M and Feng, Sheng and Fleck, Brian and Fogarty, Rhys D and Fondran, Jeremy R and Fossarello, Maurizio and Guo, Xiaobo and Haarman, Annet E. G and He, Mingguang and Howe, Laura D and Janmahasatian, Sarayut and Jhanji, Vishal and Kähönen, Mika and Kaprio, Jaakko and Kemp, John P and Khaw, Kay-Tee and Khor, Chiea-Chuen and Krapohl, Eva and Korobelnik, Jean-François and Lee, Kris and Li, Shi-Ming and Lu, Yi and Luben, Robert N and Mäkelä, Kari-Matti and McMahon, George and Meguro, Akira and Mihailov, Evelin and Miyake, Masahiro and Mizuki, Nobuhisa and Morrison, Margaux and Nangia, Vinay and Oexle, Konrad and Panda-Jonas, Songhomitra and Pang, Chi Pui and Pirastu, Mario and Plomin, Robert and Rantanen, Taina and Schache, Maria and Seppälä, Ilkka and Smith, George D and Pourcain, Beate St and Tam, Pancy O and Tideman, J. Willem L and Timpson, Nicholas J and Vaccargiu, Simona and ... and UK Biobank Eye Vis Consortium and CREAM and 23andMe Res Team and CREAM Consortium and 23andMe Research Team and UK Biobank Eye and Vision Consortium and The CREAM Consortium
Nature Genetics, ISSN 1061-4036, 06/2018, Volume 50, Issue 6, pp. 834 - 848
Journal Article
Journal of Molecular Cell Biology, ISSN 1674-2788, 12/2017, Volume 9, Issue 6, p. 533
Journal Article
JOURNAL OF MOLECULAR CELL BIOLOGY, ISSN 1674-2788, 12/2017, Volume 9, Issue 6, pp. 533 - 533
Journal Article
Journal of Molecular Cell Biology, ISSN 1674-2788, 12/2017, Volume 9, Issue 6, pp. 516 - 532
High temperature requirement A1 (HtrA1) belongs to an ancient protein family that is linked to various human disorders. The precise role of exon 1-encoded... 
ER stress | unfolded protein response | multi-domain protein evolution | HtrA1 | proteostasis | RPE | OXIDATIVE STRESS | INCREASED EXPRESSION | SERINE-PROTEASE HTRA1 | BINDING-PROTEIN | MACULAR DEGENERATION | CHOROIDAL NEOVASCULARIZATION | CELL BIOLOGY | TRANSLATIONAL REPRESSION | GENE-EXPRESSION | ENDOPLASMIC-RETICULUM | RETINAL-PIGMENT EPITHELIUM | Index Medicus | Original
Journal Article
JAMA Ophthalmology, ISSN 2168-6165, 11/2017, Volume 135, Issue 11, p. 1191
Importance: Although radiotherapy has been used more frequently in past decades for the management of large melanomas, long-term efficacy of proton beam... 
Optic nerve | Mortality | Melanoma | Radiation | Data processing | Radiation therapy | Risk factors | Acuity | Metastases | Eye | Enucleation | Ophthalmology | Tumors
Journal Article