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Original Article

Marfan Syndrome: New Clues to Genotype—Phenotype Correlations

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Pages 202-207 | Published online: 08 Jul 2009

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André Omgbwa Eballé, Augustin Ellong, Godefroy Koki, Ngoune Chantal Nanfack, Viola Andin Dohvoma & Côme Ebana Mvogo. (2012) Eye malformations in Cameroonian children: a clinical survey. Clinical Ophthalmology 6, pages 1607-1611.
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Y. Henry Sun, Yueh-Lin Wu & Ben-Yang Liao. (2023) Phenotypic heterogeneity in human genetic diseases: ultrasensitivity-mediated threshold effects as a unifying molecular mechanism. Journal of Biomedical Science 30:1.
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Jessica M. Cale, Kane Greer, Sue Fletcher & Steve D. Wilton. (2021) Proof-of-Concept: Antisense Oligonucleotide Mediated Skipping of Fibrillin-1 Exon 52. International Journal of Molecular Sciences 22:7, pages 3479.
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Joanne Laycock, Malgorzata Furmanik, Mengxi Sun, Leon J. Schurgers, Rukshana Shroff & Catherine M. Shanahan. 2020. Cardiovascular Calcification and Bone Mineralization. Cardiovascular Calcification and Bone Mineralization 137 166 .
Samuel D. Hanlon, Ali R. Behzad, Lynn Y. Sakai & Alan R. Burns. (2015) Corneal stroma microfibrils. Experimental Eye Research 132, pages 198-207.
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S. Schwill, P.N. Robinson, P. Seppelt, M. Karck & K. Kallenbach. (2014) Die Maus als Modell f?r die Grundlagenforschung bei Marfan-SyndromThe mouse as a model for basic research into Marfan syndrome. Gef?sschirurgie 19:2, pages 161-168.
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Monica Ledoux, Alain Beauchet, Christophe Fermanian, Catherine Boileau, Guillaume Jondeau & Philippe Saiag. (2011) A case-control study of cutaneous signs in adult patients with Marfan disease: Diagnostic value of striae. Journal of the American Academy of Dermatology 64:2, pages 290-295.
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Amos K. Ladouceur, Ali Shizadi & Wouter I. Shirzadi. 2011. Youmans Neurological Surgery. Youmans Neurological Surgery 3730 3736 .
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Rena Hirani, Barbara Koszyca & Roger W. Byard. (2008) Marfan syndrome and sudden death within a family ? Aetiologic, molecular and diagnostic issues at autopsy. Journal of Forensic and Legal Medicine 15:4, pages 205-209.
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Kevin B. Jones, Paul D. Sponseller, Gurkan Erkula, Lynn Sakai, Francesco Ramirez, Harry C. Dietz, Sabine Kost-Byerly, Keith H. Bridwell & Linda Sandell. (2007) Symposium on the musculoskeletal aspects of marfan syndrome: Meeting report and state of the science. Journal of Orthopaedic Research 25:3, pages 413-422.
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Arie Y. Nemet, Ehud I. Assia, David J. Apple & Irina S. Barequet. (2006) Current Concepts of Ocular Manifestations in Marfan Syndrome. Survey of Ophthalmology 51:6, pages 561-575.
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Steven D. Zangwill, Matthew D. Brown, Christine R. Bryke, Joseph R. Cava & Annette D. Segura. (2006) Marfan Syndrome Type II: There Is More to Marfan Syndrome than Fibrillin 1. Congenital Heart Disease 1:5, pages 229-232.
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Koert P. Dingemans, Peter Teeling, Allard C. van der Wal & Anton E. Becker. (2006) Ultrastructural pathology of aortic dissections in patients with Marfan syndrome:. Cardiovascular Pathology 15:4, pages 203-212.
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Peter N Robinson. 2005. Encyclopedia of Life Sciences. Encyclopedia of Life Sciences.
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Türker Kılıc, Mehran Sohrabifar, Özlem Kurtkaya, Özlem Yildirim, Ilhan Elmaci, Murat Günel & M Necmettin Pamir. (2005) Expression of Structural Proteins and Angiogenic Factors in Normal Arterial and Unruptured and Ruptured Aneurysm Walls. Neurosurgery 57:5, pages 997-1007.
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Satoshi Shinozaki, Naoki Itabashi, Kumiko Rokkaku, Kenji Ichiki, Shoichiro Nagasaka, Koji Okada, Mitsuo Fujimoto, Mamitaro Ohtsuki & Shun Ishibashi. (2005) Diabetic lipemia with eruptive xanthomatosis in a lean young female with apolipoprotein E4/4. Diabetes Research and Clinical Practice 70:2, pages 183-192.
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Kevin B. Jones, Loretha Myers, Daniel P. Judge, Patricia A. Kirby, Harry C. Dietz & Paul D. Sponseller. (2005) Toward an Understanding of Dural Ectasia: A Light Microscopy Study in a Murine Model of Marfan Syndrome. Spine 30:3, pages 291-293.
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G.J. Nollen & B.J.M. Mulder. (2004) What is new in the Marfan syndrome?. International Journal of Cardiology 97, pages 103-108.
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S.-M. Herrmann, Y.D. Adler, K. Schmidt-Petersen, V. Nicaud, C. Morrison, M. Paul & Ch.C. Zouboulis. (2003) The concomitant occurrence of multiple epidermal cysts, osteomas and thyroid gland nodules is not diagnostic for Gardner syndrome in the absence of intestinal polyposis: a clinical and genetic report. British Journal of Dermatology 149:4, pages 877-883.
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Paul W.M Fedak, Mauro P.L de Sa, Subodh Verma, Nafiseh Nili, Pedram Kazemian, Jagdish Butany, Bradley H Strauss, Richard D Weisel & Tirone E David. (2003) Vascular matrix remodeling in patients with bicuspid aortic valve malformations: implications for aortic dilatation. The Journal of Thoracic and Cardiovascular Surgery 126:3, pages 797-805.
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Eugene Y. Kissin, Raphael Lemaire, Joseph H. Korn & Robert Lafyatis. (2002) Transforming growth factor ? induces fibroblast fibrillin-1 matrix formation. Arthritis & Rheumatism 46:11, pages 3000-3009.
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Peter N. Robinson, Patrick Booms, Stefanie Katzke, Markus Ladewig, Luitgard Neumann, Monika Palz, Reinhard Pregla, Frank Tiecke & Thomas Rosenberg. (2002) Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies. Human Mutation 20:3, pages 153-161.
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Francesco Ramirez, Emilio Arteaga‐Solis & Barbara Gayraud. 2002. Wiley Encyclopedia of Molecular Medicine. Wiley Encyclopedia of Molecular Medicine.
Emily C. Walvoord & Erica A. Eugster. 2002. Developmental Endocrinology. Developmental Endocrinology 77 103 .
Ivor J. Benjamin. (2023) Matrix Metalloproteinases: From Biology to Therapeutic Strategies in Cardiovascular Disease. Journal of Investigative Medicine 49:5, pages 381-397.
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Victoria L. Browning, Shazia S. Chaudhry, Antonio Planchart, Michael J. Dixon & John C. Schimenti. (2001) Mutations of the Mouse Twist and sy (Fibrillin 2) Genes Induced by Chemical Mutagenesis of ES Cells. Genomics 73:3, pages 291-298.
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Leena Peltonen & Victor A. McKusick. (2001) Dissecting Human Disease in the Postgenomic Era. Science 291:5507, pages 1224-1229.
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Francesco Ramirez. (2000) Pathophysiology of the microfibril/elastic fiber system: introduction. Matrix Biology 19:6, pages 455-456.
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Jean-Marie Le Parc, Sabine Molcard, Florence Tubach, Catherine Boileau, Guillaume Jondeau, Christine Muti, Bertrand Chevallier & Pierre-Jean Pisella. (2000) Le syndrome de Marfan et les fibrillinopathies. Revue du Rhumatisme 67:8, pages 613-620.
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Barbara Gayraud, Douglas R. Keene, Lynn Y. Sakai & Francesco Ramirez. (2000) New Insights into the Assembly of Extracellular Microfibrils from the Analysis of the Fibrillin 1 Mutation in the Tight skin Mouse . The Journal of Cell Biology 150:3, pages 667-680.
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Juha Saharinen & Jorma Keski-Oja. (2000) Specific Sequence Motif of 8-Cys Repeats of TGF-β Binding Proteins, LTBPs, Creates a Hydrophobic Interaction Surface for Binding of Small Latent TGF-β. Molecular Biology of the Cell 11:8, pages 2691-2704.
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Katrina M. Dipple & Edward R.B. McCabe. (2000) Phenotypes of Patients with ?Simple? Mendelian Disorders Are Complex Traits: Thresholds, Modifiers, and Systems Dynamics. The American Journal of Human Genetics 66:6, pages 1729-1735.
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Otto Braun-Falco, Gerd Plewig, Helmut H. Wolff & Walter H. C. BurgdorfOtto Braun-Falco, Gerd Plewig, Helmut H. Wolff & Walter H. C. Burgdorf. 2000. Dermatology. Dermatology 751 832 .

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