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There are 8750 results for: content related to: Spontaneous coronary artery dissection in a young woman with Loeys–Dietz syndrome

  1. Loeys–Dietz syndrome presenting as respiratory distress due to pulmonary artery dilation

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 5, May 2012, Pages: 1212–1215, Kevin M. Kuppler, Daniel J. Kirse, James T. Thompson and Chad R. Haldeman-Englert

    Article first published online : 9 APR 2012, DOI: 10.1002/ajmg.a.35274

  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

    Article first published online : 28 JUN 2010, DOI: 10.1111/j.1399-0004.2010.01494.x

  3. 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

  4. 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

    Article first published online : 23 JUN 2006, DOI: 10.1002/humu.20354

  5. 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

    Article first published online : 25 JAN 2010, DOI: 10.1002/ajmg.a.33263

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    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

    Article first published online : 9 SEP 2008, DOI: 10.1002/humu.20871

  7. 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

    Article first published online : 11 JUL 2006, DOI: 10.1002/ajmg.a.31353

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

    Clinical Genetics

    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

    Article first published online : 17 DEC 2013, DOI: 10.1111/cge.12308

  9. 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

    Article first published online : 4 APR 2006, DOI: 10.1002/ajmg.a.31202

  10. 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

    Article first published online : 28 APR 2011, DOI: 10.1002/bdra.20794

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    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

    Article first published online : 21 FEB 2012, DOI: 10.1002/jbmr.1470

  12. Detection of 15 novel mutations in 52 children from 40 families with the Marfan or Loeys–Dietz syndrome and phenotype–genotype correlations

    Clinical Genetics

    C Pees, I Michel-Behnke, M Hagl and F Laccone

    Article first published online : 4 DEC 2013, DOI: 10.1111/cge.12314

  13. Increased fracture risk and low bone mineral density in patients with loeys–dietz syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 1910–1914, Eric W. Tan, Roosevelt U. Offoha, Gretchen L. Oswald, Richard L. Skolasky, Ashvin K. Dewan, Gehua Zhen, Jay R. Shapiro, Harry C. Dietz, Xu Cao and Paul D. Sponseller

    Article first published online : 4 JUL 2013, DOI: 10.1002/ajmg.a.36029

  14. Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations

    American Journal of Medical Genetics Part A

    Volume 161, Issue 1, January 2013, Pages: 185–191, Polakit Teekakirikul, Dianna M. Milewicz, David T. Miller, Ronald V. Lacro, Ellen S. Regalado, Ana Maria Rosales, Daniel P. Ryan, Tomi L. Toler and Angela E. Lin

    Article first published online : 13 DEC 2012, DOI: 10.1002/ajmg.a.35659

  15. Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders

    Human Mutation

    Volume 27, Issue 8, August 2006, Pages: 760–769, Gábor Mátyás, Eliane Arnold, Thierry Carrel, Daniela Baumgartner, Catherine Boileau, Wolfgang Berger and Beat Steinmann

    Article first published online : 21 JUN 2006, DOI: 10.1002/humu.20353

  16. 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

    Article first published online : 7 OCT 2010, DOI: 10.1111/j.1525-1403.2010.00298.x

  17. 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

    Article first published online : 20 JUL 2011, DOI: 10.1002/humu.21525

  18. 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

    Article first published online : 14 NOV 2008, DOI: 10.1002/ajmg.a.32595

  19. TGFBR2 deletion in a 20-month-old female with developmental delay and microcephaly

    American Journal of Medical Genetics Part A

    Volume 155, Issue 6, June 2011, Pages: 1442–1447, Ian M. Campbell, Katarzyna E. Kolodziejska, Michael M. Quach, Varina Louise Wolf, Sau Wai Cheung, Seema R. Lalani, Melissa B. Ramocki and Pawel Stankiewicz

    Article first published online : 12 MAY 2011, DOI: 10.1002/ajmg.a.34015

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    Total Serum Transforming Growth Factor-β1 Is Elevated in the Entire Spectrum of Genetic Aortic Syndromes

    Clinical Cardiology

    Mathias Hillebrand, Nathalie Millot, Sara Sheikhzadeh, Meike Rybczynski, Sabine Gerth, Tilo Kölbel, Britta Keyser, Kerstin Kutsche, Peter N. Robinson, Jürgen Berger, Thomas S. Mir, Tanja Zeller, Stefan Blankenberg, Yskert von Kodolitsch and Britta Goldmann

    Article first published online : 11 AUG 2014, DOI: 10.1002/clc.22320