Manifestaciones oculares del síndrome de marfán
- Autores:
-
Osorio Chacón, Mario
Tribín Gómez, Alfonso
Hernández Rodríguez, Maria Paula
Vanegas Acevedo, Juan José
Vidales Correa, Liliana
- Tipo de recurso:
- Article of journal
- Fecha de publicación:
- 2006
- Institución:
- Fundación Universitaria de Ciencias de la Salud - FUCS
- Repositorio:
- Repositorio Digital Institucional ReDi
- Idioma:
- spa
- OAI Identifier:
- oai:repositorio.fucsalud.edu.co:001/2325
- Acceso en línea:
- https://repositorio.fucsalud.edu.co/handle/001/2325
https://doi.org/10.31260/RepertMedCir.v15.n2.2006.423
- Palabra clave:
- síndrome Marfán
hallazgos oftalmológicos
ectopia lentis
Marfan syndrome
ophthalmological findings
ectopia lentis
- Rights
- openAccess
- License
- Fundación Universitaria de Ciencias de la Salud FUCS - 0
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Osorio Chacón, Marioef94cfdd5974a2fd97b4c93c0e1a9740300Tribín Gómez, Alfonsoaaaa3ebcf67bd8bfc4968c11ef0b47ab300Hernández Rodríguez, Maria Paulabea341b9c5e487328d5b35c066a6531c300Vanegas Acevedo, Juan José7750346705142b5f7700bb710b4f7868300Vidales Correa, Liliana40599ce311702f830cfc2861a4d766a73002006-06-01 00:00:002022-02-21T20:36:22Z2006-06-012006-06-01 00:00:002022-02-21T20:36:22ZSociedad de Cirugía de Bogotá, Hospital de San José y Fundación Universitaria de Ciencias de la SaludFundación Universitaria de Ciencias de la Salud FUCS - 0info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/4.0/http://purl.org/coar/access_right/c_abf2https://revistas.fucsalud.edu.co/index.php/repertorio/article/view/423síndrome Marfánhallazgos oftalmológicosectopia lentisMarfan syndromeophthalmological findingsectopia lentisManifestaciones oculares del síndrome de marfánOcular manifestations of marfan syndromeapplication/pdfArtículo de revistaJournal articlehttp://purl.org/coar/resource_type/c_6501http://purl.org/coar/resource_type/c_2df8fbb1info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionTexthttp://purl.org/coar/version/c_970fb48d4fbd8a8510.31260/RepertMedCir.v15.n2.2006.4230121-7372https://repositorio.fucsalud.edu.co/handle/001/23252462-991Xhttps://doi.org/10.31260/RepertMedCir.v15.n2.2006.423spa• Ades LC, Holman KJ, Brett MS, Edwards MJ, Bennetts B. Ectopia lentis phenotypes and the FBN1 gene. Am J Med Genet A. 2004 Apr 30;126(3):284-9.• Behan WM, Longman C, Petty RK, Comeglio P, Child AH, Boxer M, et al. Muscle fibrillin deficiency in Marfan's syndrome myopathy. J Neurol Neurosurg Psychiatry. 2003 May;74(5):633-8.• Comeglio P, Evans AL, Brice G, Cooling RJ, Child AH. Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus. BrJ Ophthalmol. 2002 Dec;86(12):1359- 62.• Dean JC. Management of Marfan syndrome. Heart. 2002 Jul;88(1):97-103.• De Paepe A, Devereux RB, Dietz HC, Hennekam RC, Pyeritz RE. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet. 1996 Apr 24;62(4):417-26.• Krause KJ. Marfan syndrome: literature review of mortality studies. J Insur Med. 2000;32(2):79- 88.• Loja David, Vilca Maricela, Avilés Roberto. Síndrome de Marfan. A propósito de un caso. An. Fac. Med. 2001;62(1)• Loeys B, Nuytinck L, Delvaux I, De Bie S, De Paepe A. Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome. Arch Intern Med. 2001 Nov 12; 161(20):2447-54 .• Maumenee IH. The eye in the Marfan syndrome. Trans Am Ophthalmol Soc. 1981;79:684-733.• Robinson PN, Booms P, Katzke S, Ladewig M, Neumann L, Palz M, et al. Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies. Hum Mutat. 2002 Sep;20(3):153-61.• Rothe MJ, Grant-Kels JM, Kels BD. Ocular and cutaneous manifestations of heritable disorders of collagen and elastic tissue. Dermatol Clin. 1992 Jul;10(3):591-5.• Traboulsi EI, Whittum-Hudson JA, Mir SH, Maumenee IH. Microfibril abnormalities of the lens capsule in patients with Marfan syndrome and ectopia lentis. Ophthalmic Genet. 2000 Mar;21(1):9-15.https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/423/478Núm. 2 , Año 2006 : Abril – Junio7627215Revista Repertorio de Medicina y CirugíaPublicationOREORE.xmltext/xml2475https://repositorio.fucsalud.edu.co/bitstreams/4dd84d9f-5204-47d1-8803-41a4059e0e75/downloadf1c295f756514306c0d9aec86698c3beMD51001/2325oai:repositorio.fucsalud.edu.co:001/23252024-02-02 13:06:50.994https://creativecommons.org/licenses/by-nc-sa/4.0/Fundación Universitaria de Ciencias de la Salud FUCS - 0metadata.onlyhttps://repositorio.fucsalud.edu.coRepositorio Digital de la Fundación Universitaria de Ciencias de la Saludredi@fucsalud.edu.co |
| dc.title.spa.fl_str_mv |
Manifestaciones oculares del síndrome de marfán |
| dc.title.translated.eng.fl_str_mv |
Ocular manifestations of marfan syndrome |
| title |
Manifestaciones oculares del síndrome de marfán |
| spellingShingle |
Manifestaciones oculares del síndrome de marfán síndrome Marfán hallazgos oftalmológicos ectopia lentis Marfan syndrome ophthalmological findings ectopia lentis |
| title_short |
Manifestaciones oculares del síndrome de marfán |
| title_full |
Manifestaciones oculares del síndrome de marfán |
| title_fullStr |
Manifestaciones oculares del síndrome de marfán |
| title_full_unstemmed |
Manifestaciones oculares del síndrome de marfán |
| title_sort |
Manifestaciones oculares del síndrome de marfán |
| dc.creator.fl_str_mv |
Osorio Chacón, Mario Tribín Gómez, Alfonso Hernández Rodríguez, Maria Paula Vanegas Acevedo, Juan José Vidales Correa, Liliana |
| dc.contributor.author.spa.fl_str_mv |
Osorio Chacón, Mario Tribín Gómez, Alfonso Hernández Rodríguez, Maria Paula Vanegas Acevedo, Juan José Vidales Correa, Liliana |
| dc.subject.spa.fl_str_mv |
síndrome Marfán hallazgos oftalmológicos ectopia lentis |
| topic |
síndrome Marfán hallazgos oftalmológicos ectopia lentis Marfan syndrome ophthalmological findings ectopia lentis |
| dc.subject.eng.fl_str_mv |
Marfan syndrome ophthalmological findings ectopia lentis |
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2006 |
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2006-06-01 00:00:00 2022-02-21T20:36:22Z |
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• Ades LC, Holman KJ, Brett MS, Edwards MJ, Bennetts B. Ectopia lentis phenotypes and the FBN1 gene. Am J Med Genet A. 2004 Apr 30;126(3):284-9. • Behan WM, Longman C, Petty RK, Comeglio P, Child AH, Boxer M, et al. Muscle fibrillin deficiency in Marfan's syndrome myopathy. J Neurol Neurosurg Psychiatry. 2003 May;74(5):633-8. • Comeglio P, Evans AL, Brice G, Cooling RJ, Child AH. Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus. BrJ Ophthalmol. 2002 Dec;86(12):1359- 62. • Dean JC. Management of Marfan syndrome. Heart. 2002 Jul;88(1):97-103. • De Paepe A, Devereux RB, Dietz HC, Hennekam RC, Pyeritz RE. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet. 1996 Apr 24;62(4):417-26. • Krause KJ. Marfan syndrome: literature review of mortality studies. J Insur Med. 2000;32(2):79- 88. • Loja David, Vilca Maricela, Avilés Roberto. Síndrome de Marfan. A propósito de un caso. An. Fac. Med. 2001;62(1) • Loeys B, Nuytinck L, Delvaux I, De Bie S, De Paepe A. Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome. Arch Intern Med. 2001 Nov 12; 161(20):2447-54 . • Maumenee IH. The eye in the Marfan syndrome. Trans Am Ophthalmol Soc. 1981;79:684-733. • Robinson PN, Booms P, Katzke S, Ladewig M, Neumann L, Palz M, et al. Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies. Hum Mutat. 2002 Sep;20(3):153-61. • Rothe MJ, Grant-Kels JM, Kels BD. Ocular and cutaneous manifestations of heritable disorders of collagen and elastic tissue. Dermatol Clin. 1992 Jul;10(3):591-5. • Traboulsi EI, Whittum-Hudson JA, Mir SH, Maumenee IH. Microfibril abnormalities of the lens capsule in patients with Marfan syndrome and ectopia lentis. Ophthalmic Genet. 2000 Mar;21(1):9-15. |
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