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There are 12815 results for: content related to: Chapter 96. Marfan Syndrome and Related Disorders of the Connective Tissue

  1. Skeletal Manifestations in Marfan Syndrome and Related Disorders of the Connective Tissue

    Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism, Eighth Edition

    Emilio Arteaga-Solis, Francesco Ramirez, Pages: 830–837, 2013

    Published Online : 19 JUL 2013, DOI: 10.1002/9781118453926.ch100

  2. 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

  3. Symposium on the musculoskeletal aspects of marfan syndrome: Meeting report and state of the science

    Journal of Orthopaedic Research

    Volume 25, Issue 3, March 2007, Pages: 413–422, Kevin B. Jones, Paul D. Sponseller, Gurkan Erkula, Lynn Sakai, Francesco Ramirez, Harry C. Dietz III, Sabine Kost-Byerly, Keith H. Bridwell and Linda Sandell

    Article first published online : 1 DEC 2006, DOI: 10.1002/jor.20314

  4. Characterization of the symptoms associated with dural ectasia in the Marfan patient

    American Journal of Medical Genetics Part A

    Volume 134A, Issue 1, 1 April 2005, Pages: 58–65, Jared R.H. Foran, Reed E. Pyeritz, Harry C. Dietz and Paul D. Sponseller

    Article first published online : 2 FEB 2005, DOI: 10.1002/ajmg.a.30525

  5. 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

  6. Marfan Syndrome and Other Microfibrillar Disorders

    Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects, Second Edition

    Reed E. Pyeritz, Harry C. Dietz, Pages: 585–626, 2003

    Published Online : 30 APR 2003, DOI: 10.1002/0471221929.ch12

  7. Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: Further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 5, May 2009, Pages: 854–860, L. Faivre, G. Collod-Beroud, B. Callewaert, A. Child, B.L. Loeys, C. Binquet, E. Gautier, E. Arbustini, K. Mayer, M. Arslan-Kirchner, A. Kiotsekoglou, P. Comeglio, M. Grasso, C. Beroud, C. Bonithon-Kopp, M. Claustres, C. Stheneur, O. Bouchot, J.E. Wolf, P.N. Robinson, L. Adès, J. De Backer, P. Coucke, U. Francke, A. De Paepe, C. Boileau and G. Jondeau

    Article first published online : 7 APR 2009, DOI: 10.1002/ajmg.a.32809

  8. 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

  9. Revised diagnostic criteria for the Marfan syndrome

    American Journal of Medical Genetics

    Volume 62, Issue 4, 24 April 1996, Pages: 417–426, Anne De Paepe, Richard B. Devereux, Harry C. Dietz, Raoul C. M. Hennekam and Reed E. Pyeritz

    Article first published online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19960424)62:4<417::AID-AJMG15>3.0.CO;2-R

  10. Prevalence of dural ectasia in 63 gene-mutation-positive patients with features of Marfan syndrome type 1 and Loeys-Dietz syndrome and report of 22 novel FBN1 mutations

    Clinical Genetics

    Volume 75, Issue 3, March 2009, Pages: 265–270, B Söylen, KK Singh, A Abuzainin, K Rommel, H Becker, M Arslan-Kirchner and J Schmidtke

    Article first published online : 21 JAN 2009, DOI: 10.1111/j.1399-0004.2008.01126.x

  11. Marfan Syndrome

    Standard Article

    Management of Genetic Syndromes

    Iris Schrijver, Deborah M. Alcorn and Uta Francke

    Published Online : 14 JAN 2005, DOI: 10.1002/0471695998.mgs029

  12. Neuromuscular features in Marfan syndrome

    Clinical Genetics

    Volume 76, Issue 1, July 2009, Pages: 25–37, NC Voermans, J Timmermans, N Van Alfen, S Pillen, J Op Den Akker, M Lammens, MJ Zwarts, IALM Van Rooij, BC Hamel and BG Van Engelen

    Article first published online : 15 JUL 2009, DOI: 10.1111/j.1399-0004.2009.01197.x

  13. 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

    Article first published online : 2 JUN 2011, DOI: 10.1111/j.1399-0004.2011.01703.x

  14. Comprehensive analysis of dural ectasia in 150 patients with a causative FBN1 mutation

    Clinical Genetics

    S Sheikhzadeh, C Sondermann, M Rybczynski, CR Habermann, L Brockstaedt, B Keyser, H Kaemmerer, T Mir, A Staebler, PN Robinson, K Kutsche, J Berger, S Blankenberg and Y von Kodolitsch

    Article first published online : 23 SEP 2013, DOI: 10.1111/cge.12264

  15. Search for correlations between FBN1 genotype and complete Ghent phenotype in 44 unrelated Norwegian patients with Marfan syndrome

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 17, 1 September 2007, Pages: 1968–1977, Svend Rand-Hendriksen, Lena Tjeldhorn, Rigmor Lundby, Svein Ove Semb, Jon Offstad, Kai Andersen, Odd Geiran and Benedicte Paus

    Article first published online : 30 JUL 2007, DOI: 10.1002/ajmg.a.31759

  16. Detection of 53 FBN1 mutations (41 novel and 12 recurrent) and genotype–phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathy

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 2, February 2009, Pages: 161–170, C.L.S. Turner, H. Emery, A.L. Collins, R.J. Howarth, C.M. Yearwood, E. Cross, P.J. Duncan, D.J. Bunyan, J.F. Harvey and N.C. Foulds

    Article first published online : 22 JAN 2009, DOI: 10.1002/ajmg.a.32593

  17. Recent progress towards a molecular understanding of Marfan syndrome

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

    Volume 139C, Issue 1, 15 November 2005, Pages: 4–9, Harry C. Dietz, Bart Loeys, Luca Carta and Francesco Ramirez

    Article first published online : 4 NOV 2005, DOI: 10.1002/ajmg.c.30068

  18. 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

  19. 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

  20. Dural ectasia in children with Marfan syndrome: A prospective, multicenter, patient-control study

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 7, 1 April 2006, Pages: 775–781, Walter Knirsch, Claudia Kurtz, Nicole Häffner, Gudrun Binz, Peter Heim, Peter Winkler, Daniela Baumgartner, Karin Freund-Unsinn, Heiko Stern, Harald Kaemmerer, Luciano Molinari, Deniz Kececioglu and Frank Uhlemann

    Article first published online : 7 MAR 2006, DOI: 10.1002/ajmg.a.31158