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There are 6402 results for: content related to: A mutation in TGFB 3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with marfan and loeys–dietz syndrome

  1. 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

  2. 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

    Version of Record online : 4 JUL 2013, DOI: 10.1002/ajmg.a.36029

  3. De novo mutation of the latency-associated peptide domain of TGFB3 in a patient with overgrowth and Loeys–Dietz syndrome features

    American Journal of Medical Genetics Part A

    Volume 164, Issue 8, August 2014, Pages: 2141–2143, Gabor Matyas, Paulina Naef, Martin Tollens and Konrad Oexle

    Version of Record online : 5 MAY 2014, DOI: 10.1002/ajmg.a.36593

  4. Response to “De novo mutation of the TGFB3 latency-associated peptide domain in a patient with overgrowth and Loeys–Dietz syndrome features”

    American Journal of Medical Genetics Part A

    Volume 164, Issue 8, August 2014, Pages: 2144–2145, Hugh Young Rienhoff Jr.

    Version of Record online : 9 MAY 2014, DOI: 10.1002/ajmg.a.36603

  5. Skeletal overgrowth syndrome caused by overexpression of C-type natriuretic peptide in a girl with balanced chromosomal translocation, t(1;2)(q41;q37.1)

    American Journal of Medical Genetics Part A

    Volume 167, Issue 5, May 2015, Pages: 1033–1038, Jung Min Ko, Jun-Seok Bae, Jin Sun Choi, Kohji Miura, Hye Ran Lee, Ok-Hwa Kim, Nayoung KD Kim, Sun Kyung Oh, Keiichi Ozono, Choon-Ki Lee, In Ho Choi, Woong-Yang Park and Tae-Joon Cho

    Version of Record online : 27 FEB 2015, DOI: 10.1002/ajmg.a.36884

  6. Hand and fibrillin-1 deposition abnormalities in Loeys–Dietz syndrome—expanding the clinical spectrum

    American Journal of Medical Genetics Part A

    Volume 164, Issue 2, February 2014, Pages: 461–466, Brian H.Y. Chung, Tim Bradley, Lars Grosse-Wortmann, Susan Blaser, Peter Dirks, Aleksander Hinek and David Chitayat

    Version of Record online : 5 NOV 2013, DOI: 10.1002/ajmg.a.36246

  7. Severe obstructive sleep apnea in loeys–dietz syndrome successfully treated using continuous positive airway pressure

    American Journal of Medical Genetics Part A

    Volume 161, Issue 7, July 2013, Pages: 1733–1736, Toshiki Takenouchi, Hideyuki Saito, Ryo Maruoka, Naoki Oishi, Chiharu Torii, Jun Maeda, Takao Takahashi and Kenjiro Kosaki

    Version of Record online : 17 MAY 2013, DOI: 10.1002/ajmg.a.35953

  8. Pregnancy after aortic root replacement in Loeys–Dietz syndrome: High risk of aortic dissection

    American Journal of Medical Genetics Part A

    Alan C. Braverman, Marc R. Moon, Patrick Geraghty, Marcia Willing, Christopher Bach and Nicholas T. Kouchoukos

    Version of Record online : 29 APR 2016, DOI: 10.1002/ajmg.a.37694

  9. Percutanous closure of left ventricular aneurysms in a patient with Loeys–Dietz syndrome

    Catheterization and Cardiovascular Interventions

    Volume 85, Issue 2, 1 February 2015, Pages: 315–320, Simon Cheung Chi Lam, Stefan Bertog and Horst Sievert

    Version of Record online : 29 JAN 2014, DOI: 10.1002/ccd.25365

  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

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

  11. 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

  12. 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

    Version of Record online : 12 NOV 2008, DOI: 10.1002/ajmg.a.32567

  13. 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

  14. 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

  15. 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

    Version of Record online : 9 APR 2012, DOI: 10.1002/ajmg.a.35274

  16. Screening of TGFBR1, TGFBR2, and FLNA in familial mitral valve prolapse

    American Journal of Medical Genetics Part A

    Volume 164, Issue 1, January 2014, Pages: 113–119, Jan J.J. Aalberts, J. Peter van Tintelen, Toon Oomen, Jorieke E.H. Bergman, Dicky J.J. Halley, Jan D.H. Jongbloed, Albert J.H. Suurmeijer and Maarten P. van den Berg

    Version of Record online : 15 NOV 2013, DOI: 10.1002/ajmg.a.36211

  17. 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

  18. Marfan Syndrome Type II: There Is More to Marfan Syndrome than Fibrillin 1

    Congenital Heart Disease

    Volume 1, Issue 5, September/October 2006, Pages: 229–232, Steven D. Zangwill, Matthew D. Brown, Christine R. Bryke, Joseph R. Cava and Annette D. Segura

    Version of Record online : 11 SEP 2006, DOI: 10.1111/j.1747-0803.2006.00040.x

  19. Molecular Genetics of Aortic Aneurysms and Aortic Dissections

    Standard Article

    eLS

    Ellen S Regalado and Dianna M Milewicz

    Published Online : 16 MAR 2015, DOI: 10.1002/9780470015902.a0024366

  20. 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