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There are 18689 results for: content related to: Ectopia lentis as the presenting and primary feature in Marfan syndrome

  1. The new Ghent criteria for Marfan syndrome: what do they change?

    Clinical Genetics

    Volume 81, Issue 5, May 2012, Pages: 433–442, L Faivre, G Collod-Beroud, L Adès, E Arbustini, A Child, BL Callewaert, B Loeys, C Binquet, E Gautier, K Mayer, M Arslan-Kirchner, M Grasso, C Beroud, D Hamroun, C Bonithon-Kopp, H Plauchu, PN Robinson, J De Backer, P Coucke, U Francke, O Bouchot, JE Wolf, C Stheneur, N Hanna, D Detaint, A De Paepe, C Boileau and G Jondeau

    Version of Record online : 2 JUN 2011, DOI: 10.1111/j.1399-0004.2011.01703.x

  2. Fibrillin-1 genetic deficiency leads to pathological ageing of arteries in mice

    The Journal of Pathology

    Volume 224, Issue 1, May 2011, Pages: 33–44, Boubacar Mariko, Mylène Pezet, Brigitte Escoubet, Stéphanie Bouillot, Jean-Pierre Andrieu, Barry Starcher, Daniela Quaglino, Marie-Paule Jacob, Philippe Huber, Francesco Ramirez and Gilles Faury

    Version of Record online : 22 MAR 2011, DOI: 10.1002/path.2840

  3. A comparison of the ghent and revised ghent nosologies for the diagnosis of marfan syndrome in an adult korean population

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 5, May 2012, Pages: 989–995, Jeong Hoon Yang, Hyejin Han, Shin Yi Jang, Ju Ryoung Moon, Kiick Sung, Tae-Young Chung, Heung Jae Lee, Chang-Seok Ki and Duk-Kyung Kim

    Version of Record online : 7 DEC 2011, DOI: 10.1002/ajmg.a.34392

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    Pathophysiology and Japanese clinical characteristics in Marfan syndrome

    Pediatrics International

    Volume 56, Issue 4, August 2014, Pages: 484–491, Daishi Fujita, Norifumi Takeda, Yasushi Imai, Ryo Inuzuka, Issei Komuro and Yasunobu Hirata

    Version of Record online : 24 SEP 2014, DOI: 10.1111/ped.12423

  5. The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 24, 15 December 2008, Pages: 3157–3166, Meike Rybczynski, Alexander M.J. Bernhardt, Uwe Rehder, Bettina Fuisting, Ludwig Meiss, Ursula Voss, Christian Habermann, Christian Detter, Peter N. Robinson, Mine Arslan-Kirchner, Jörg Schmidtke, Thomas S. Mir, Jürgen Berger, Thomas Meinertz and Yskert von Kodolitsch

    Version of Record online : 14 NOV 2008, DOI: 10.1002/ajmg.a.32595

  6. Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

    Clinical Genetics

    Volume 84, Issue 6, December 2013, Pages: 507–521, P Callier, B Aral, N Hanna, S Lambert, H Dindy, C Ragon, M Payet, G Collod-Beroud, V Carmignac, MA Delrue, C Goizet, N Philip, T Busa, Y Dulac, I Missotte, Y Sznajer, A Toutain, C Francannet, A Megarbane, S Julia, T Edouard, P Sarda, J Amiel, S Lyonnet, V Cormier-Daire, B Gilbert, A Jacquette, D Heron, P Collignon, D Lacombe, F Morice-Picard, PS Jouk, V Cusin, M Willems, E Sarrazin, K Amarof, C Coubes, MC Addor, H Journel, E Colin, P Khau Van Kien, C Baumann, B Leheup, D Martin- Coignard, M Doco-Fenzy, A Goldenberg, G Plessis, J Thevenon, L Pasquier, S Odent, P Vabres, F Huet, N Marle, AL Mosca- Boidron, F Mugneret, S Gauthier, C Binquet, C Thauvin-Robinet, G Jondeau, C Boileau and L Faivre

    Version of Record online : 18 MAR 2013, DOI: 10.1111/cge.12094

  7. Analysis of phenotype and genotype information for the diagnosis of Marfan syndrome

    Clinical Genetics

    Volume 82, Issue 3, September 2012, Pages: 240–247, S Sheikhzadeh, C Kade, B Keyser, M Stuhrmann, M Arslan-Kirchner, M Rybczynski, AM Bernhardt, CR Habermann, M Hillebrand, T Mir, PN Robinson, J Berger, C Detter, S Blankenberg, J Schmidtke and Y von Kodolitsch

    Version of Record online : 5 OCT 2011, DOI: 10.1111/j.1399-0004.2011.01771.x

  8. Ectopia lentis phenotypes and the FBN1 gene

    American Journal of Medical Genetics Part A

    Volume 126A, Issue 3, 30 April 2004, Pages: 284–289, Lesley C. Adès, Katherine J. Holman, Maggie S. Brett, Matthew J. Edwards and Bruce Bennetts

    Version of Record online : 26 NOV 2003, DOI: 10.1002/ajmg.a.20605

  9. Molecular Genetics of the Fibrillinopathies

    Standard Article

    eLS

    Mélodie Aubart, Louise Benarroch, Pauline Arnaud, Gwenaëlle Collod-Béroud, Guillaume Jondeau and Catherine Boileau

    Published Online : 2 MAR 2016, DOI: 10.1002/9780470015902.a0025314

  10. Search for correlations between FBN1 genotype and complete Ghent phenotype in 44 unrelated Norwegian patients with Marfan syndrome

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 17, 1 September 2007, Pages: 1968–1977, Svend Rand-Hendriksen, Lena Tjeldhorn, Rigmor Lundby, Svein Ove Semb, Jon Offstad, Kai Andersen, Odd Geiran and Benedicte Paus

    Version of Record online : 30 JUL 2007, DOI: 10.1002/ajmg.a.31759

  11. Clinical and genetic analysis of Korean patients with Marfan syndrome: possible ethnic differences in clinical manifestation

    Clinical Genetics

    Volume 77, Issue 2, February 2010, Pages: 177–182, E-H Yoo, H Woo, C-S Ki, HJ Lee, D-K Kim, I-S Kang, P Park, K Sung, CS Lee, T-Y Chung, JR Moon, H Han, S-T Lee and J-W Kim

    Version of Record online : 23 OCT 2009, DOI: 10.1111/j.1399-0004.2009.01287.x

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    Erratum

    Vol. 78, Issue 5, 505, Version of Record online: 8 OCT 2010

  12. Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome

    Clinical Genetics

    Volume 72, Issue 3, September 2007, Pages: 188–198, J De Backer, B Loeys, B Leroy, P Coucke, H Dietz and A De Paepe

    Version of Record online : 6 AUG 2007, DOI: 10.1111/j.1399-0004.2007.00845.x

  13. Early onset ectopia lentis due to a FBN1 mutation with non-penetrance

    American Journal of Medical Genetics Part A

    Volume 167, Issue 6, June 2015, Pages: 1365–1368, Li Zhang, Yu-Hung Lai, Jenina E. Capasso, Stella Han and Alex V. Levin

    Version of Record online : 21 APR 2015, DOI: 10.1002/ajmg.a.37035

  14. FBN1 mutations in patients with descending thoracic aortic dissections

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 2, February 2010, Pages: 413–416, Ariel Brautbar, Scott A. LeMaire, Luis M. Franco, Joseph S. Coselli, Dianna M. Milewicz and John W. Belmont

    Version of Record online : 15 JAN 2010, DOI: 10.1002/ajmg.a.32856

  15. Cardiovascular manifestations in Marfan syndrome and related diseases; multiple genes causing similar phenotypes

    Clinical Genetics

    Volume 87, Issue 1, January 2015, Pages: 11–20, J.R. Cook, L. Carta, J. Galatioto and F. Ramirez

    Version of Record online : 10 JUL 2014, DOI: 10.1111/cge.12436

  16. Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy

    American Journal of Medical Genetics Part A

    Volume 167, Issue 8, August 2015, Pages: 1747–1757, Whitney Wooderchak-Donahue, Chad VanSant-Webb, Tatiana Tvrdik, Parker Plant, Tracey Lewis, Jennifer Stocks, Joshua A. Raney, Lindsay Meyers, Alizabeth Berg, Alan F. Rope, Anji T. Yetman, Steven B. Bleyl, Rebecca Mesley, David A. Bull, R. Thomas Collins, Mayra Martinez Ojeda, Amy Roberts, Ronald Lacro, Audrey Woerner, Joan Stoler and Pinar Bayrak-Toydemir

    Version of Record online : 5 MAY 2015, DOI: 10.1002/ajmg.a.37085

  17. Diagnostic yield in adults screened at the marfan outpatient clinic using the 1996 and 2010 ghent nosologies

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 5, May 2012, Pages: 982–988, Jan J.J. Aalberts, Chris H.L. Thio, Agnes G. Schuurman, Irene M. van Langen, Bert A.E. van der Pol, J. Peter van Tintelen and Maarten P. van den Berg

    Version of Record online : 27 MAR 2012, DOI: 10.1002/ajmg.a.35343

  18. The revised ghent nosology; reclassifying isolated ectopia lentis

    Clinical Genetics

    Volume 87, Issue 3, March 2015, Pages: 284–287, A. Chandra, D. Patel, J.A. Aragon-Martin, A. Pinard, G. Collod-Béroud, P. Comeglio, C. Boileau, L. Faivre, D. Charteris, A.H. Child and G. Arno

    Version of Record online : 6 MAR 2014, DOI: 10.1111/cge.12358

  19. Novel approach to the molecular diagnosis of Marfan syndrome: Application to sporadic cases and in prenatal diagnosis

    American Journal of Medical Genetics

    Volume 99, Issue 4, 1 April 2001, Pages: 294–302, Iva Toudjarska, Michael W. Kilpatrick, Peter Lembessis, Scott Carra, Gary L. Harton, Michael E. Sisson, Susan H. Black, Harvey J. Stern, Zully Gelman-Kohan, Mordechai Shohat and Petros Tsipouras

    Version of Record online : 28 AUG 2002, DOI: 10.1002/ajmg.1174

  20. Missense mutations in FBN1 exons 41 and 42 cause Weill–Marchesani syndrome with thoracic aortic disease and Marfan syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 9, September 2013, Pages: 2305–2310, Alana Cecchi, Naomi Ogawa, Hugo R. Martinez, Alicia Carlson, Yuxin Fan, Daniel J. Penny, Dong-chuan Guo, Steven Eisenberg, Hazim Safi, Anthony Estrera, Richard A. Lewis, Deborah Meyers and Dianna M. Milewicz

    Version of Record online : 29 JUL 2013, DOI: 10.1002/ajmg.a.36044