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There are 2983 results for: content related to: The 8th international research symposium on the Marfan Syndrome and related conditions

  1. Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 16, 15 August 2006, Pages: 1719–1725, Haruya Sakai, Remco Visser, Shiro Ikegawa, Etsuro Ito, Hironao Numabe, Yoriko Watanabe, Haruo Mikami, Tatsuro Kondoh, Hiroshi Kitoh, Ryusuke Sugiyama, Nobuhiko Okamoto, Tsutomu Ogata, Riccardo Fodde, Seiji Mizuno, Kyoko Takamura, Masayuki Egashira, Nozomu Sasaki, Sachiro Watanabe, Shigeru Nishimaki, Fumio Takada, Toshiro Nagai, Yasushi Okada, Yoshikazu Aoka, Kazushi Yasuda, Mitsuji Iwasa, Shigetoyo Kogaki, Naoki Harada, Takeshi Mizuguchi and Naomichi Matsumoto

    Version of Record online : 11 JUL 2006, DOI: 10.1002/ajmg.a.31353

  2. FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 10, 15 May 2006, Pages: 1047–1058, L.C. Adès, K. Sullivan, A. Biggin, E.A. Haan, M. Brett, K.J. Holman, J. Dixon, S. Robertson, A.D. Holmes, J. Rogers and B. Bennetts

    Version of Record online : 4 APR 2006, DOI: 10.1002/ajmg.a.31202

  3. Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes

    Human Mutation

    Volume 32, Issue 9, September 2011, Pages: 1053–1062, Machteld Baetens, Lut Van Laer, Kim De Leeneer, Jan Hellemans, Joachim De Schrijver, Hendrik Van De Voorde, Marjolijn Renard, Hal Dietz, Ronald V. Lacro, Björn Menten, Wim Van Criekinge, Julie De Backer, Anne De Paepe, Bart Loeys and Paul J. Coucke

    Version of Record online : 20 JUL 2011, DOI: 10.1002/humu.21525

  4. Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes

    Human Mutation

    Volume 36, Issue 8, August 2015, Pages: 808–814, Dorien Proost, Geert Vandeweyer, Josephina A.N. Meester, Simone Salemink, Marlies Kempers, Christie Ingram, Nils Peeters, Johan Saenen, Christiaan Vrints, Ronald V. Lacro, Dan Roden, Wim Wuyts, Harry C. Dietz, Geert Mortier, Bart L. Loeys and Lut Van Laer

    Version of Record online : 13 JUN 2015, DOI: 10.1002/humu.22802

  5. 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

  6. Dural ectasia in individuals with Marfan-like features but exclusion of mutations in the genes FBN1, TGFBR1 and TGFBR2

    Clinical Genetics

    Volume 79, Issue 6, June 2011, Pages: 568–574, S Sheikhzadeh, M Rybczynski, CR Habermann, AMJ Bernhardt, M Arslan-Kirchner, B Keyser, H Kaemmerer, TS Mir, A Staebler, N Oezdal, PN Robinson, J Berger, T Meinertz and Y von Kodolitsch

    Version of Record online : 28 JUN 2010, DOI: 10.1111/j.1399-0004.2010.01494.x

  7. 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

  8. 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

  9. 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

  10. From tall to short: The role of TGFβ signaling in growth and its disorders

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 160C, Issue 3, 15 August 2012, Pages: 145–153, Carine Le Goff and Valérie Cormier-Daire

    Version of Record online : 12 JUL 2012, DOI: 10.1002/ajmg.c.31337

  11. You have free access to this content
    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

  12. 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

  13. 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

  14. 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

    Corrected by:

    Erratum

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

  15. 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

  16. Specificity of latent TGF-β binding protein (LTBP) incorporation into matrix: Role of fibrillins and fibronectin

    Journal of Cellular Physiology

    Volume 227, Issue 12, December 2012, Pages: 3828–3836, Lior Zilberberg, Vesna Todorovic, Branka Dabovic, Masahito Horiguchi, Thomas Couroussé, Lynn Y. Sakai and Daniel B. Rifkin

    Version of Record online : 23 AUG 2012, DOI: 10.1002/jcp.24094

  17. 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

  18. 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

  19. Molecular pathology of Shprintzen–Goldberg syndrome

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 1, 1 January 2006, Pages: 104–108, Kenjiro Kosaki, Daisuke Takahashi, Toru Udaka, Rika Kosaki, Morio Matsumoto, Shigeharu Ibe, Takeshi Isobe, Yoko Tanaka and Takao Takahashi

    Version of Record online : 6 DEC 2005, DOI: 10.1002/ajmg.a.31006

  20. Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 7, July 2009, Pages: 1452–1459, Brian Hon-Yin Chung, Stephen Tak-Sum Lam, Tony Ming-For Tong, Susanna Yuk-Han Li, Kin-Shing Lun, Daniel Hon-Chuen Chan, Susanna Fung-Shan Fok, June Siu-Fong Or, David Keith Smith, Wanling Yang and Yu-Lung Lau

    Version of Record online : 16 JUN 2009, DOI: 10.1002/ajmg.a.32918