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There are 7913 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. 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

  3. 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

  4. 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

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

  5. Marfan Syndrome

    Management of Genetic Syndromes

    Suzanne B. Cassidy, Judith E. Allanson, Pages: 495–515, 2010

    Published Online : 17 MAY 2010, DOI: 10.1002/9780470893159.ch34

  6. 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

  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

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

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

    American Journal of Medical Genetics Part A

    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

    Article first published online : 5 MAY 2015, DOI: 10.1002/ajmg.a.37085

  9. 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

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

    Clinical Genetics

    Volume 86, Issue 6, December 2014, Pages: 552–557, C. Pees, I. Michel-Behnke, M. Hagl and F. Laccone

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

  11. 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

  12. 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

  13. Paternal somatic mosaicism of a TGFBR2 mutation transmitting to an affected son with Loeys–Dietz syndrome

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 23, 1 December 2008, Pages: 3070–3074, Yoriko Watanabe, Haruya Sakai, Akira Nishimura, Noriko Miyake, Hirotomo Saitsu, Takeshi Mizuguchi and Naomichi Matsumoto

    Article first published online : 12 NOV 2008, DOI: 10.1002/ajmg.a.32567

  14. 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

    Article first published online : 7 DEC 2011, DOI: 10.1002/ajmg.a.34392

  15. 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

    Article first published online : 26 MAR 2015, DOI: 10.1002/ajmg.c.31429

  16. 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

    Article first published online : 12 JUL 2012, DOI: 10.1002/ajmg.c.31337

  17. 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

  18. 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

  19. Identification of candidate downstream targets of TGFβ signaling during palate development by genome-wide transcript profiling

    Journal of Cellular Biochemistry

    Volume 114, Issue 4, April 2013, Pages: 796–807, Richard C. Pelikan, Junichi Iwata, Akiko Suzuki, Yang Chai and Joseph G. Hacia

    Article first published online : 18 FEB 2013, DOI: 10.1002/jcb.24417

  20. Imaging and Percutaneous Occlusion of a Large Aneurysm of the Ductus Arteriosus in an Infant with Loeys-Dietz Syndrome

    Congenital Heart Disease

    Volume 8, Issue 6, November/December 2013, Pages: E192–E195, Gareth J. Morgan, Deane L.S. Yim, Alison M. Hayes, Robin P. Martin, Mark C.K. Hamilton and Graham Stuart

    Article first published online : 28 JAN 2013, DOI: 10.1111/chd.12041