Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Eye Diseases, Hereditary/diagnosis"'
Autor:
M. Elizabeth Brickner, Reed E. Pyeritz, Kathryn C. Chatfield, Dianna M. Milewicz, Anthony L. Estrera, Ellen S. Regalado, Hiroko Morisaki, Patricia L. Musolino, Lauren Mellor-Crummey, Susan L. Benedict, Mustafa Tekin, Denver Sallee, Kathryn W. Holmes, Timothy J. Bradley, Cori Feist, Glen J. Iannucci, Julie Richer, Sherene Shalhub, John R. Østergaard, Lesley C. Adès, Anne H. Child, Paul R. Mark, Shaine A. Morris, Anna L. Mitchell, Birgit Lorenz, Julie De Backer, Takayuki Morisaki, Anji T. Yetman, Alan C. Braverman
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Regalado, E S, Mellor-Crummey, L, De Backer, J, Braverman, A C, Ades, L, Benedict, S, Bradley, T J, Brickner, M E, Chatfield, K C, Child, A, Feist, C, Holmes, K W, Iannucci, G, Lorenz, B, Mark, P, Morisaki, T, Morisaki, H, Morris, S A, Mitchell, A L, Ostergaard, J R, Richer, J, Sallee, D, Shalhub, S, Tekin, M, Estrera, A, Musolino, P, Yetman, A, Pyeritz, R, Milewicz, D M & Montalcino Aortic Consortium 2018, ' Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations ', Genetics in Medicine, vol. 20, no. 10, pp. 1206-1215 . https://doi.org/10.1038/gim.2017.245
Regalado, E S, Mellor-Crummey, L, De Backer, J, Braverman, A C, Ades, L, Benedict, S, Bradley, T J, Brickner, M E, Chatfield, K C, Child, A, Feist, C, Holmes, K W, Iannucci, G, Lorenz, B, Mark, P, Morisaki, T, Morisaki, H, Morris, S A, Mitchell, A L, Ostergaard, J R, Richer, J, Sallee, D, Shalhub, S, Tekin, M, Estrera, A, Musolino, P, Yetman, A, Pyeritz, R, Milewicz, D M & Montalcino Aortic Consortium 2018, ' Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations ', Genetics in Medicine, vol. 20, no. 10, pp. 1206-1215 . https://doi.org/10.1038/gim.2017.245
Purpose: Smooth muscle dysfunction syndrome (SMDS) due to heterozygous ACTA2 arginine 179 alterations is characterized by patent ductus arteriosus, vasculopathy (aneurysm and occlusive lesions), pulmonary arterial hypertension, and other complication
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8781f25dd24c3cd5595fe15cb4a2f568
http://europepmc.org/articles/PMC6034999
http://europepmc.org/articles/PMC6034999
Autor:
Jens-Erik Beck Jensen, M. Schmidt, C.Z. Swan, Jens Højberg Wanscher, Hans Gjørup, Jesper Hjortdal, Kim Brixen, Dorte Haubek, Bente L. Langdahl, Jannie Dahl Hald, D.A. Larsen, Torben Harsløf, C.-H. Leonhard, Allan M. Lund, Lars Folkestad, Morten Duno
Publikováno v:
Hald, J D, Folkestad, L, Swan, C Z, Wanscher, J, Schmidt, M, Gjørup, H, Haubek, D, Leonhard, C-H, Larsen, D A, Hjortdal, J Ø, Harsløf, T, Duno, M, Lund, A M, Jensen, J-E B, Brixen, K & Langdahl, B 2018, ' Osteogenesis imperfecta and the teeth, eyes, and ears-a study of non-skeletal phenotypes in adults ', Osteoporosis International, vol. 29, no. 12, pp. 2781–2789 . https://doi.org/10.1007/s00198-018-4663-x
Hald, J D, Folkestad, L, Swan, C Z, Wanscher, J, Schmidt, M, Gjørup, H, Haubek, D, Leonhard, C H, Larsen, D A, Hjortdal, J, Harsløf, T, Duno, M, Lund, A M, Jensen, J E B, Brixen, K & Langdahl, B 2018, ' Osteogenesis imperfecta and the teeth, eyes, and ears—a study of non-skeletal phenotypes in adults ', Osteoporosis International, vol. 29, no. 12, pp. 2781–2789 . https://doi.org/10.1007/s00198-018-4663-x
Hald, J D, Folkestad, L, Swan, C Z, Wanscher, J, Schmidt, M, Gjørup, H, Haubek, D, Leonhard, C H, Larsen, D A, Hjortdal, J, Harsløf, T, Duno, M, Lund, A M, Jensen, J E B, Brixen, K & Langdahl, B 2018, ' Osteogenesis imperfecta and the teeth, eyes, and ears—a study of non-skeletal phenotypes in adults ', Osteoporosis International, vol. 29, no. 12, pp. 2781–2789 . https://doi.org/10.1007/s00198-018-4663-x
Osteogenesis imperfecta (OI) is a disease causing bone fragility; however, it potentially affects all organs with a high content of collagen, including ears, teeth, and eyes. The study is cross-sectional and compares non-skeletal characteristics in a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44b45bf0133a3dfe0485326a9f7aa84e
https://pubmed.ncbi.nlm.nih.gov/30143849
https://pubmed.ncbi.nlm.nih.gov/30143849
Autor:
Garcia, Jose Mauricio Botto de Barros, Isaac, David Leonardo Cruvinel, Sardeiro, Tainara, Aquino, Érika, Avila, Marcos
Publikováno v:
Arquivos Brasileiros de Oftalmologia, Volume: 80, Issue: 5, Pages: 321-323, Published: OCT 2017
This report presents multimodal imaging of a 27-year-old woman diagnosed with benign familial fleck retina (OMIM 228980), an uncommon disorder. Fundus photographs revealed retinal flecks that affected her post-equatorial retina but spared the macular
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______608::c4b5afadc96833ef3776cf4a45131960
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492017000500012&lng=en&tlng=en
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492017000500012&lng=en&tlng=en
Autor:
Garcia,Jose Mauricio Botto de Barros, Isaac,David Leonardo Cruvinel, Sardeiro,Tainara, Aquino,Érika, Avila,Marcos
Publikováno v:
Arquivos Brasileiros de Oftalmologia v.80 n.5 2017
Arquivos brasileiros de oftalmologia
Conselho Brasileiro de Oftalmologia (CBO)
instacron:CBO
Arquivos brasileiros de oftalmologia
Conselho Brasileiro de Oftalmologia (CBO)
instacron:CBO
This report presents multimodal imaging of a 27-year-old woman diagnosed with benign familial fleck retina (OMIM 228980), an uncommon disorder. Fundus photographs revealed retinal flecks that affected her post-equatorial retina but spared the macular
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3056::c4b5afadc96833ef3776cf4a45131960
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492017000500012
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492017000500012
Autor:
Véronique Paquis-Flucklinger, Corinne Baudoin, Maxime Hebrard, José-Alain Sahel, Christina Zeitz, Bernd Wissinger, Jean-Michel Rozet, Anne-Françoise Roux, Isabelle Audo, Isabelle Perrault, Pascal Reynier, Hélène Dollfus, Claire-Marie Dhaenens, Mireille Claustres, Cécile Delettre, Christian P. Hamel, Dominique Bonneau, Catherine Blanchet, Benoit Arveiler, Béatrice Bocquet, Patrizia Amati-Bonneau, Audrey Sénéchal, Jean-Paul Bonnefont, Marie-Odile Surget, Isabelle Meunier, Suzanne Kohl, Gaël Manes, Virginie Marquette, Josseline Kaplan, Annie Lacroux, Patrick Calvas
Publikováno v:
Ophthalmic Epidemiology
Ophthalmic Epidemiology, Taylor & Francis, 2013, 20 (1), pp.13-25. ⟨10.3109/09286586.2012.737890⟩
Ophthalmic Epidemiology, 2013, 20 (1), pp.13-25. ⟨10.3109/09286586.2012.737890⟩
Ophthalmic Epidemiology, Taylor & Francis, 2013, 20 (1), pp.13-25. ⟨10.3109/09286586.2012.737890⟩
Ophthalmic Epidemiology, 2013, 20 (1), pp.13-25. ⟨10.3109/09286586.2012.737890⟩
International audience; PURPOSE:Inherited retinal dystrophies (IRDs) and inherited optic neuropathies (IONs) are rare diseases defined by specific clinical and molecular features. The relative prevalence of these conditions was determined in Southern
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50fe16ac2c24e1b783beecd383c53094
https://hal.umontpellier.fr/hal-02446185
https://hal.umontpellier.fr/hal-02446185
Enhanced S-cone syndrome is a rare, slowly progressive autosomal recessively inherited retinal degeneration related to mutations in the NR2E3 gene. Patients often present with night blindness, visual loss and visual field abnormalities. Patients with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e823debed8ee6df45fddc91998185ad
https://biblio.vub.ac.be/vubir/peculiar-fundus-abnormalities-and-pathognomonic-electrophysiological-findings-in-a-14monthold-boy-with-nr2e3-mutations(25a27283-39d8-40a5-8a2d-b47a6698adcd).html
https://biblio.vub.ac.be/vubir/peculiar-fundus-abnormalities-and-pathognomonic-electrophysiological-findings-in-a-14monthold-boy-with-nr2e3-mutations(25a27283-39d8-40a5-8a2d-b47a6698adcd).html
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