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There are 6922 results for: content related to: Spontaneous coronary artery dissection in a young woman with Loeys–Dietz syndrome

  1. 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

  2. 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

  3. Reversible cerebral vasoconstriction syndrome and posterior reversible encephalopathy syndrome in a boy with Loeys-Dietz syndrome

    American Journal of Medical Genetics Part A

    Volume 167, Issue 10, October 2015, Pages: 2435–2439, Yohei Akazawa, Yuji Inaba, Akira Hachiya, Noriko Motoki, Satoshi Matsuzaki, Kenji Minatoya, Takayuki Morisaki, Hiroko Morisaki, Kenjiro Kosaki, Tomoki Kosho and Kenichi Koike

    Version of Record online : 22 JUN 2015, DOI: 10.1002/ajmg.a.37202

  4. Connective Tissue Disorders

    Pediatric Cardiovascular Medicine, Second Edition

    Lut Van Laer, Bart Loeys, Pages: 969–981, 2012

    Published Online : 13 JAN 2012, DOI: 10.1002/9781444398786.ch67

  5. TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome

    Human Mutation

    Volume 27, Issue 8, August 2006, Pages: 770–777, Krishna Kumar Singh, Kathrin Rommel, Anjali Mishra, Matthias Karck, Axel Haverich, Jörg Schmidtke and Mine Arslan-Kirchner

    Version of Record online : 23 JUN 2006, DOI: 10.1002/humu.20354

  6. Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders

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

    Volume 169, Issue 1, March 2015, Pages: 6–22, Marina Colombi, Chiara Dordoni, Nicola Chiarelli and Marco Ritelli

    Version of Record online : 26 MAR 2015, DOI: 10.1002/ajmg.c.31429

  7. Dural ectasia in Loeys–Dietz syndrome: comprehensive study of 30 patients with a TGFBR1 or TGFBR2 mutation

    Clinical Genetics

    Volume 86, Issue 6, December 2014, Pages: 545–551, S. Sheikhzadeh, L. Brockstaedt, C.R. Habermann, C. Sondermann, P. Bannas, T.S. Mir, A. Staebler, H. Seidel, B. Keyser, M. Arslan-Kirchner, K. Kutsche, J. Berger, S. Blankenberg and Y. von Kodolitsch

    Version of Record online : 17 DEC 2013, DOI: 10.1111/cge.12308

  8. 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

  9. 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

  10. You have free access to this content
    Marfan Syndrome and Related Disorders: 25 Years of Gene Discovery

    Human Mutation

    Volume 37, Issue 6, June 2016, Pages: 524–531, Aline Verstraeten, Maaike Alaerts, Lut Van Laer and Bart Loeys

    Version of Record online : 14 MAR 2016, DOI: 10.1002/humu.22977

  11. Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys–Dietz syndrome type 1B

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 2, February 2010, Pages: 417–421, Yukako Muramatsu, Tomoki Kosho, Miyuki Magota, Taro Yokotsuka, Masatoki Ito, Ayako Yasuda, Osamu Kito, Chizuko Suzuki, Yoshie Nagata, Satoru Kawai, Masanobu Ikoma, Tameo Hatano, Masato Nakayama, Rie Kawamura, Keiko Wakui, Hiroko Morisaki, Takayuki Morisaki and Yoshimitsu Fukushima

    Version of Record online : 25 JAN 2010, DOI: 10.1002/ajmg.a.33263

  12. You have free access to this content
    Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders

    Human Mutation

    Volume 29, Issue 11, November 2008, Pages: E284–E295, Chantal Stheneur, Gwenaëlle Collod-Béroud, Laurence Faivre, Laurent Gouya, Gilles Sultan, Jean-Marie Le Parc, Bertrand Moura, David Attias, Christine Muti, Marc Sznajder, Mireille Claustres, Claudine Junien, Clarisse Baumann, Valérie Cormier-Daire, Marlène Rio, Stanislas Lyonnet, Henri Plauchu, Didier Lacombe, Bertrand Chevallier, Guillaume Jondeau and Catherine Boileau

    Version of Record online : 9 SEP 2008, DOI: 10.1002/humu.20871

  13. 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

  14. The neuromuscular differential diagnosis of joint hypermobility

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

    Volume 169, Issue 1, March 2015, Pages: 23–42, S. Donkervoort, C.G. Bonnemann, B. Loeys, H. Jungbluth and N.C. Voermans

    Version of Record online : 26 MAR 2015, DOI: 10.1002/ajmg.c.31433

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    The 8th international research symposium on the Marfan Syndrome and related conditions

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 1, January 2012, Pages: 42–49, Reed E. Pyeritz and Bart Loeys

    Version of Record online : 2 DEC 2011, DOI: 10.1002/ajmg.a.34386

  16. De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: Two new cases and a clinical review

    American Journal of Medical Genetics Part A

    Volume 164, Issue 3, March 2014, Pages: 676–684, P.Y. Billie Au, Hilary E. Racher, John M. Graham Jr., Nancy Kramer, R. Brian Lowry, Jillian S. Parboosingh, A. Micheil Innes and FORGE Canada Consortium

    Version of Record online : 19 DEC 2013, DOI: 10.1002/ajmg.a.36340

  17. TGFβ signaling and congenital heart disease: Insights from mouse studies

    Birth Defects Research Part A: Clinical and Molecular Teratology

    Volume 91, Issue 6, June 2011, Pages: 423–434, Helen M. Arthur and Simon D. Bamforth

    Version of Record online : 28 APR 2011, DOI: 10.1002/bdra.20794

  18. You have free access to this content
    Low bone mass and high material bone density in two patients with Loeys-Dietz syndrome caused by transforming growth factor beta receptor 2 mutations

    Journal of Bone and Mineral Research

    Volume 27, Issue 3, March 2012, Pages: 713–718, I Mouna Ben Amor, Thomas Edouard, Francis H Glorieux, Gilles Chabot, Marc Tischkowitz, Paul Roschger, Klaus Klaushofer and Frank Rauch

    Version of Record online : 21 FEB 2012, DOI: 10.1002/jbmr.1470

  19. Treatment of Chronic Chest Wall Pain in a Patient With Loeys-Dietz Syndrome Using Spinal Cord Stimulation

    Neuromodulation: Technology at the Neural Interface

    Volume 14, Issue 1, January/February 2011, Pages: 27–29, Alexander E. Yakovlev, Beth E. Resch and Sergey A. Karasev

    Version of Record online : 7 OCT 2010, DOI: 10.1111/j.1525-1403.2010.00298.x

  20. No major contribution of the TGFBR1- and TGFBR2-mediated pathway to Kabuki syndrome

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 8, 15 April 2006, Pages: 903–905, Armand Bottani, Bruno Pardo, Isabelle Bouchardy, Jacqueline Schoumans, Annick Toutain and Bernard Conrad

    Version of Record online : 9 MAR 2006, DOI: 10.1002/ajmg.a.31168