Zobrazeno 1 - 10
of 60
pro vyhledávání: '"Jaume Català Mora"'
Autor:
Anna Esteve-Garcia, Estefania Cobos, Cristina Sau, Ariadna Padró-Miquel, Jaume Català-Mora, Pilar Barberán-Martínez, José M. Millán, Gema García-García, Cinthia Aguilera
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Introduction:TULP1 exemplifies the remarkable clinical and genetic heterogeneity observed in inherited retinal dystrophies. Our research describes the clinical and molecular characteristics of a patient manifesting an atypical retinal dystrophy patte
Externí odkaz:
https://doaj.org/article/7498f0855a6149f8b650b1741e4a7da2
Autor:
Ankit Singh Tomar, Paul T. Finger, Brenda Gallie, Tero T. Kivelä, Ashwin Mallipatna, Chengyue Zhang, Junyang Zhao, Matthew W. Wilson, Rachel C. Brennan, Michala Burges, Jonathan Kim, Jesse L. Berry, Rima Jubran, Vikas Khetan, Suganeswari Ganesan, Andrey Yarovoy, Vera Yarovaya, Elena Kotova, Denis Volodin, Yacoub A. Yousef, Kalle Nummi, Tatiana L. Ushakova, Olga V. Yugay, Vladimir G. Polyakov, Marco A. Ramirez-Ortiz, Elizabeth Esparza-Aguiar, Guillermo Chantada, Paula Schaiquevich, Adriana Fandino, Jason C. Yam, Winnie W. Lau, Carol P. Lam, Phillipa Sharwood, Sonia Moorthy, Quah Boon Long, Vera Adobea Essuman, Lorna A. Renner, Ekaterina Semenova, Jaume Català-Mora, Genoveva Correa-Llano, Elisa Carreras
Publikováno v:
Ophthalmology. 129:933-945
Autor:
Ankit Singh Tomar, Paul T. Finger, Brenda Gallie, Tero T. Kivelä, Ashwin Mallipatna, Chengyue Zhang, Junyang Zhao, Matthew W. Wilson, Rachel C. Brennan, Michala Burges, Jonathan Kim, Jesse L. Berry, Rima Jubran, Vikas Khetan, Suganeswari Ganesan, Andrey Yarovoy, Vera Yarovaya, Elena Kotova, Denis Volodin, Yacoub A. Yousef, Kalle Nummi, Tatiana L. Ushakova, Olga V. Yugay, Vladimir G. Polyakov, Marco A. Ramirez-Ortiz, Elizabeth Esparza-Aguiar, Guillermo Chantada, Paula Schaiquevich, Adriana Fandino, Jason C. Yam, Winnie W. Lau, Carol P. Lam, Phillipa Sharwood, Sonia Moorthy, Quah Boon Long, Vera Adobea Essuman, Lorna A. Renner, Ekaterina Semenova, Jaume Català-Mora, Genoveva Correa-Llano, Elisa Carreras
Publikováno v:
Ophthalmology. 129:923-932
Autor:
Francisco Olguin-Manriquez, Cristina del Prado Sánchez, Jaume Català-Mora, Jorge Sanchez Molina, Anna Ruiz Llobet, Anna Faura Morros, Nuria Conde Cuevas, Laura Arques, Fernando Rafael Aguirregomezcorta, Albert Catalá
Objective: To evaluate changes in multimodal retinal imaging of patients with chronic myeloid leukemia. Methods: Observational case series study. All patients underwent a complete ophthalmic examination and were imaged with multimodal imaging before
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7ea3fbd52fab22a433c1751540dc1bf2
https://doi.org/10.22541/au.168387667.72318929/v1
https://doi.org/10.22541/au.168387667.72318929/v1
Autor:
Paul T. Finger, Ankit S. Tomar, Brenda Gallie, Tero T. Kivelä, Ashwin Mallipatna, Chengyue Zhang, Junyang Zhao, Matthew W. Wilson, Rachel C. Brennan, Michala Burges, Jonathan Kim, Jesse L. Berry, Rima Jubran, Vikas Khetan, Suganeswari Ganesan, Andrey Yarovoy, Vera Yarovaya, Elena Kotova, Denis Volodin, Yacoub A. Yousef, Kalle Nummi, Tatiana L. Ushakova, Olga V. Yugay, Vladimir G. Polyakov, Marco A. Ramirez-Ortiz, Elizabeth Esparza-Aguiar, Guillermo Chantada, Paula Schaiquevich, Adriana Fandino, Jason C. Yam, Winnie W. Lau, Carol P. Lam, Phillipa Sharwood, Sonia Moorthy, Quah Boon Long, Vera Adobea Essuman, Lorna A. Renner, Ekaterina Semenova, Jaume Català-Mora, Genoveva Correa-Llano, Elisa Carreras
Publikováno v:
Ophthalmology. 130:e12-e13
Autor:
Bernd, Wissinger, Britta, Baumann, Elena, Buena-Atienza, Zeinab, Ravesh, Artur V, Cideciyan, Katarina, Stingl, Isabelle, Audo, Isabelle, Meunier, Beatrice, Bocquet, Elias I, Traboulsi, Alison J, Hardcastle, Jessica C, Gardner, Michel, Michaelides, Kari E, Branham, Thomas, Rosenberg, Sten, Andreasson, Hélène, Dollfus, David, Birch, Andrea L, Vincent, Loreto, Martorell, Jaume, Català Mora, Ulrich, Kellner, Klaus, Rüther, Birgit, Lorenz, Markus N, Preising, Emanuela, Manfredini, Yuri A, Zarate, Raymon, Vijzelaar, Eberhart, Zrenner, Samuel G, Jacobson, Susanne, Kohl
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America. 119(27)
Blue cone monochromacy (BCM) is an X-linked retinal disorder characterized by low vision, photoaversion, and poor color discrimination. BCM is due to the lack of long-wavelength-sensitive and middle-wavelength-sensitive cone photoreceptor function an
Autor:
Maria Solaki, Britta Baumann, Peggy Reuter, Sten Andreasson, Isabelle Audo, Carmen Ayuso, Ghassan Balousha, Francesco Benedicenti, David Birch, Pierre Bitoun, Delphine Blain, Beatrice Bocquet, Kari Branham, Jaume Català‐Mora, Elfride De Baere, Helene Dollfus, Mohammed Falana, Roberto Giorda, Irina Golovleva, Irene Gottlob, John R. Heckenlively, Samuel G. Jacobson, Kaylie Jones, Herbert Jägle, Andreas R. Janecke, Ulrich Kellner, Petra Liskova, Birgit Lorenz, Loreto Martorell‐Sampol, André Messias, Isabelle Meunier, Fernanda Belga Ottoni Porto, Eleni Papageorgiou, Astrid S. Plomp, Thomy J. L. de Ravel, Charlotte M. Reiff, Agnes B. Renner, Thomas Rosenberg, Günther Rudolph, Roberto Salati, E. Cumhur Sener, Paul A. Sieving, Franco Stanzial, Elias I. Traboulsi, Stephen H. Tsang, Balázs Varsanyi, Richard G. Weleber, Ditta Zobor, Katarina Stingl, Bernd Wissinger, Susanne Kohl
Publikováno v:
HUMAN MUTATION
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Human Mutation, 43(7), 832-858. Wiley-Liss Inc.
Solaki, M, Baumann, B, Reuter, P, Andreasson, S, Audo, I, Ayuso, C, Balousha, G, Benedicenti, F, Birch, D, Bitoun, P, Blain, D, Bocquet, B, Branham, K, Català-Mora, J, de Baere, E, Dollfus, H, Falana, M, Giorda, R, Golovleva, I, Gottlob, I, Heckenlively, J R, Jacobson, S G, Jones, K, Jägle, H, Janecke, A R, Kellner, U, Liskova, P, Lorenz, B, Martorell-Sampol, L, Messias, A, Meunier, I, Belga Ottoni Porto, F, Papageorgiou, E, Plomp, A S, de Ravel, T J L, Reiff, C M, Renner, A B, Rosenberg, T, Rudolph, G N, Salati, R, Sener, E C, Sieving, P A, Stanzial, F, Traboulsi, E I, Tsang, S H, Varsanyi, B, Weleber, R G, Zobor, D, Stingl, K, Wissinger, B & Kohl, S 2022, ' Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia ', Human Mutation, vol. 43, no. 7, pp. 832-858 . https://doi.org/10.1002/humu.24371
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Human Mutation, 43(7), 832-858. Wiley-Liss Inc.
Solaki, M, Baumann, B, Reuter, P, Andreasson, S, Audo, I, Ayuso, C, Balousha, G, Benedicenti, F, Birch, D, Bitoun, P, Blain, D, Bocquet, B, Branham, K, Català-Mora, J, de Baere, E, Dollfus, H, Falana, M, Giorda, R, Golovleva, I, Gottlob, I, Heckenlively, J R, Jacobson, S G, Jones, K, Jägle, H, Janecke, A R, Kellner, U, Liskova, P, Lorenz, B, Martorell-Sampol, L, Messias, A, Meunier, I, Belga Ottoni Porto, F, Papageorgiou, E, Plomp, A S, de Ravel, T J L, Reiff, C M, Renner, A B, Rosenberg, T, Rudolph, G N, Salati, R, Sener, E C, Sieving, P A, Stanzial, F, Traboulsi, E I, Tsang, S H, Varsanyi, B, Weleber, R G, Zobor, D, Stingl, K, Wissinger, B & Kohl, S 2022, ' Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia ', Human Mutation, vol. 43, no. 7, pp. 832-858 . https://doi.org/10.1002/humu.24371
Achromatopsia (ACHM) is a congenital cone photoreceptor disorder characterized by impaired color discrimination, low visual acuity, photosensitivity, and nystagmus. To date, six genes have been associated with ACHM (CNGA3, CNGB3, GNAT2, PDE6C, PDE6H,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13cafbc43970561d8125d8a63b8e563d
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=21318
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=21318
Autor:
André Nicolas, Céline Desbrousses, Mariona Suñol, Sylvain Baulande, Fabiana Lubieniecki, Sandrine Arrufat, David Gentien, Nanor Sirab, Eric Letouzé, Clément Hua, Simon Saule, Elodie Chapeaublanc, Paul Fréneaux, Fariba Nemati, Laurie Tonon, Claude Houdayer, Odette Mariani, Alain Viari, Magalie Larcher, Xavier Sastre-Garau, Sacha Reichman, Daniela Ottaviani, Nathalie Cassoux, Marion Gauthier-Villars, Isabelle Aerts, Céline Vallot, Guillermo Chantada, Aurélien de Reyniès, Genoveva Correa Llano, Liliana Mirabal-Ortega, Livia Lumbroso-Le Rouic, Angel M. Carcaboso, Jérôme Couturier, Dominique Stoppa-Lyonnet, Hervé Brisse, Jaume Català-Mora, Florent Dufour, Isabelle Bernard-Pierrot, François Doz, Meriem Sefta, Paula Schaiquevich, Emmanuel Barillot, Laurence Desjardins, Rosario Aschero, Nabila Elarouci, Celio Pouponnot, Tatiana Popova, F. Radvanyi, Catherine Dehainault, Jing Liu, Gabriela Lamas, Narjesse Karboul, Didier Decaudin, Alexandre Matet, Lisa Golmard, Céline Brulard, Sylvain Guibert, Guillem Pascual-Pasto, Olivier Goureau, Anne Biton
Publikováno v:
NATURE COMMUNICATIONS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Nature Communications
Nature Communications, Nature Publishing Group, 2021, 12 (1), ⟨10.1038/s41467-021-25792-0⟩
Nature Communications, 2021, 12 (1), pp.1-20. ⟨10.1038/s41467-021-25792-0⟩
Nature Communications, Vol 12, Iss 1, Pp 1-20 (2021)
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Nature Communications
Nature Communications, Nature Publishing Group, 2021, 12 (1), ⟨10.1038/s41467-021-25792-0⟩
Nature Communications, 2021, 12 (1), pp.1-20. ⟨10.1038/s41467-021-25792-0⟩
Nature Communications, Vol 12, Iss 1, Pp 1-20 (2021)
Retinoblastoma is the most frequent intraocular malignancy in children, originating from a maturing cone precursor in the developing retina. Little is known on the molecular basis underlying the biological and clinical behavior of this cancer. Here,
Autor:
Tero Kivelä, Brenda L. Gallie, Matthew W. Wilson, Martine J. Jager, J.M. Caminal, Anibal Martin Folgar, Gregorius P M Luyten, Stefan Seregard, Gaurav Garg, Paul T. Finger, Cristina Gutiérrez, Vladimir Valskiy, Shigenobu Suzuki, Kimberly J. Chin, Mehmet Dogrusöz, Anush Amiryan, Barrett G. Haik, E. Rand Simpson, Maria Fili, Jaume Català-Mora, Ekaterina Semenova, S.V. Saakyan, David E. Pelayes, Arun D. Singh
Publikováno v:
British Journal of Ophthalmology, 106(4). BMJ PUBLISHING GROUP
ObjectiveTo analyse ocular and systemic findings of patients presenting with systemic metastasis.Methods and analysisIt is an international, multicentre, internet-enabled, registry-based retrospective data analysis. Patients were diagnosed between 20
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65131d1b74ee1409a99b8ecc860d8de0
https://bjo.bmj.com/content/bjophthalmol/early/2021/01/24/bjophthalmol-2020-317949.full.pdf
https://bjo.bmj.com/content/bjophthalmol/early/2021/01/24/bjophthalmol-2020-317949.full.pdf
Autor:
Andrew W. Stacey, Richard Bowman, Allen Foster, Tero T. Kivelä, Francis L. Munier, Nathalie Cassoux, Ido Didi Fabian, Lamis Al Harby, Silvia Alarcón Portabella, Donjeta B. Alia, Charlotta All-Eriksson, Romanzo Antonino, Nicholas J. Astbury, Julia Balaguer, Walentyna Balwierz, Honorio Barranco, Covadonga Bascaran, Maja Beck Popovic, Eva M. Biewald, Nadia Bobrova, Norbert Bornfeld, Bénédicte G. Brichard, Sharon Blum, Michael Capra, Guilherme Castela, Jaume Català-Mora, Guillermo L. Chantada, Violeta S. Chernodrinska, Krzysztof Cieslik, Codruta Comsa, Maria G. Correa Llano, Monika Csóka, Patrick De Potter, Laurence Desjardins, Monica D. Dragomir, Ana Fernández-Teijeiro, David García Aldana, Pernille A. Gregersen, Nir Gomel, Theodora Hadjistilianou, Stanislava Hederova, Marlies Hummlen, Kristina Husakova, Russo Ida, Vesna R. Ilic, Helen Jenkinson, Noa Kapelushnik, Tamar Kardava, Naama Keren-Froim, Tomas Kepak, Zaza Khotenashvili, Artur Klett, Dalia Krivaitiene, Slobodanka Latinović, Livia Lumbroso, Lesia Lysytsia, Erika Maka, Nieves Martín Begue, Edoardo Midena, Annette C. Moll, Gabriela Murgoi, Larisa Naumenko, Vladimir Neroev, Marina Nikitovic, Andrzej Olechowski, Ruzanna Papyan, Raffaele Parrozzani, Manoj V. Parulekar, Katarzyna Pawinska-Wasikowska, Sanja Perić, Pavel Pochop, Vladimir G. Polyakov, M. Ashwin Reddy, Petra Ritter-Sovinz, Svetlana Saakyan, Mandeep S. Sagoo, Sonsoles San Román Pacheco, Stefan Seregard, Sónia Silva, Tetyana Sorochynska, Christina Stathopoulos, Branka Stirn Kranjc, Karel Svojgr, Gevorg Tamamyan, Alketa Tandili, Bekim Tateshi, Manca Tekavcic Pompe, Steen F. Urbak, Tatiana L. Ushakova, Sandra Valeina, Milo van Hoefen Wijsard, Nevyana V. Veleva-Krasteva, Maris Viksnins, Werner Wackernagel, Charlotte Wolley Dod, Vera A. Yarovaya, Andrey A. Yarovoy, Katsiaryna Zhilyaeva, Marcia Zondervan
Publikováno v:
Global Retinoblastoma Study Group 2021, ' Incidence of Retinoblastoma Has Increased : Results from 40 European Countries ', Ophthalmology, vol. 128, no. 9, pp. 1369-1371 . https://doi.org/10.1016/j.ophtha.2021.01.024
Stacey, A W, Bowman, R, Foster, A, Kivelä, T T, Munier, F L, Cassoux, N, Fabian, I D & Global Retinoblastoma Study Group 2021, ' Incidence of Retinoblastoma Has Increased : Results from 40 European Countries ', Ophthalmology, vol. 128, no. 9, pp. 1369-1371 . https://doi.org/10.1016/j.ophtha.2021.01.024
Ophthalmology, 128(9), 1369-1371. Elsevier Inc.
Stacey, A W, Bowman, R, Foster, A, Kivelä, T T, Munier, F L, Cassoux, N, Fabian, I D & Global Retinoblastoma Study Group 2021, ' Incidence of Retinoblastoma Has Increased : Results from 40 European Countries ', Ophthalmology, vol. 128, no. 9, pp. 1369-1371 . https://doi.org/10.1016/j.ophtha.2021.01.024
Ophthalmology, 128(9), 1369-1371. Elsevier Inc.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::261f17a7891dcb6da49cb233d1f0d271
http://hdl.handle.net/11577/3391345
http://hdl.handle.net/11577/3391345