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There are 3524 results for: content related to: The new Ghent criteria for Marfan syndrome: what do they change?

  1. You have free access to this content
    Cardiovascular manifestations in Marfan syndrome and related diseases; multiple genes causing similar phenotypes

    Clinical Genetics

    Volume 87, Issue 1, January 2015, Pages: 11–20, J.R. Cook, L. Carta, J. Galatioto and F. Ramirez

    Article first published online : 10 JUL 2014, DOI: 10.1111/cge.12436

  2. Ectopia lentis phenotypes and the FBN1 gene

    American Journal of Medical Genetics Part A

    Volume 126A, Issue 3, 30 April 2004, Pages: 284–289, Lesley C. Adès, Katherine J. Holman, Maggie S. Brett, Matthew J. Edwards and Bruce Bennetts

    Article first published online : 26 NOV 2003, DOI: 10.1002/ajmg.a.20605

  3. You have free access to this content
    Pathophysiology and Japanese clinical characteristics in Marfan syndrome

    Pediatrics International

    Volume 56, Issue 4, August 2014, Pages: 484–491, Daishi Fujita, Norifumi Takeda, Yasushi Imai, Ryo Inuzuka, Issei Komuro and Yasunobu Hirata

    Article first published online : 24 SEP 2014, DOI: 10.1111/ped.12423

  4. 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

  5. Clinical and genetic analysis of Korean patients with Marfan syndrome: possible ethnic differences in clinical manifestation

    Clinical Genetics

    Volume 77, Issue 2, February 2010, Pages: 177–182, E-H Yoo, H Woo, C-S Ki, HJ Lee, D-K Kim, I-S Kang, P Park, K Sung, CS Lee, T-Y Chung, JR Moon, H Han, S-T Lee and J-W Kim

    Article first published online : 23 OCT 2009, DOI: 10.1111/j.1399-0004.2009.01287.x

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    Erratum

    Vol. 78, Issue 5, 505, Article first published online: 8 OCT 2010

  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. The revised ghent nosology; reclassifying isolated ectopia lentis

    Clinical Genetics

    Volume 87, Issue 3, March 2015, Pages: 284–287, A. Chandra, D. Patel, J.A. Aragon-Martin, A. Pinard, G. Collod-Béroud, P. Comeglio, C. Boileau, L. Faivre, D. Charteris, A.H. Child and G. Arno

    Article first published online : 6 MAR 2014, DOI: 10.1111/cge.12358

  8. Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

    Clinical Genetics

    Volume 84, Issue 6, December 2013, Pages: 507–521, P Callier, B Aral, N Hanna, S Lambert, H Dindy, C Ragon, M Payet, G Collod-Beroud, V Carmignac, MA Delrue, C Goizet, N Philip, T Busa, Y Dulac, I Missotte, Y Sznajer, A Toutain, C Francannet, A Megarbane, S Julia, T Edouard, P Sarda, J Amiel, S Lyonnet, V Cormier-Daire, B Gilbert, A Jacquette, D Heron, P Collignon, D Lacombe, F Morice-Picard, PS Jouk, V Cusin, M Willems, E Sarrazin, K Amarof, C Coubes, MC Addor, H Journel, E Colin, P Khau Van Kien, C Baumann, B Leheup, D Martin- Coignard, M Doco-Fenzy, A Goldenberg, G Plessis, J Thevenon, L Pasquier, S Odent, P Vabres, F Huet, N Marle, AL Mosca- Boidron, F Mugneret, S Gauthier, C Binquet, C Thauvin-Robinet, G Jondeau, C Boileau and L Faivre

    Article first published online : 18 MAR 2013, DOI: 10.1111/cge.12094

  9. Analysis of phenotype and genotype information for the diagnosis of Marfan syndrome

    Clinical Genetics

    Volume 82, Issue 3, September 2012, Pages: 240–247, S Sheikhzadeh, C Kade, B Keyser, M Stuhrmann, M Arslan-Kirchner, M Rybczynski, AM Bernhardt, CR Habermann, M Hillebrand, T Mir, PN Robinson, J Berger, C Detter, S Blankenberg, J Schmidtke and Y von Kodolitsch

    Article first published online : 5 OCT 2011, DOI: 10.1111/j.1399-0004.2011.01771.x

  10. Diagnostic yield in adults screened at the marfan outpatient clinic using the 1996 and 2010 ghent nosologies

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 5, May 2012, Pages: 982–988, Jan J.J. Aalberts, Chris H.L. Thio, Agnes G. Schuurman, Irene M. van Langen, Bert A.E. van der Pol, J. Peter van Tintelen and Maarten P. van den Berg

    Article first published online : 27 MAR 2012, DOI: 10.1002/ajmg.a.35343

  11. 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

  12. Mutations of FBN1 and genotype–phenotype correlations in Marfan syndrome and related fibrillinopathies

    Human Mutation

    Volume 20, Issue 3, September 2002, Pages: 153–161, Peter N. Robinson, Patrick Booms, Stefanie Katzke, Markus Ladewig, Luitgard Neumann, Monika Palz, Reinhard Pregla, Frank Tiecke and Thomas Rosenberg

    Article first published online : 21 AUG 2002, DOI: 10.1002/humu.10113

  13. 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

  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. Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome

    Clinical Genetics

    Volume 72, Issue 3, September 2007, Pages: 188–198, J De Backer, B Loeys, B Leroy, P Coucke, H Dietz and A De Paepe

    Article first published online : 6 AUG 2007, DOI: 10.1111/j.1399-0004.2007.00845.x

  16. Critical appraisal of the revised Ghent criteria for diagnosis of Marfan syndrome

    Clinical Genetics

    Volume 80, Issue 4, October 2011, Pages: 346–353, T Radonic, P de Witte, M Groenink, RACM de Bruin-Bon, J Timmermans, AJH Scholte, MP van den Berg, MJH Baars, JP van Tintelen, M Kempers, AH Zwinderman and BJM Mulder

    Article first published online : 31 MAR 2011, DOI: 10.1111/j.1399-0004.2011.01646.x

  17. TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies

    Human Mutation

    Volume 20, Issue 3, September 2002, Pages: 197–208, Stefanie Katzke, Patrick Booms, Frank Tiecke, Monika Palz, Angelika Pletschacher, Seval Türkmen, Luitgard M. Neumann, Reinhard Pregla, Christa Leitner, Cornelia Schramm, Peter Lorenz, Christian Hagemeier, Josefine Fuchs, Flemming Skovby, Thomas Rosenberg and Peter N. Robinson

    Article first published online : 21 AUG 2002, DOI: 10.1002/humu.10112

  18. Shprintzen–Goldberg syndrome: Fourteen new patients and a clinical analysis

    American Journal of Medical Genetics Part A

    Volume 135A, Issue 3, 15 June 2005, Pages: 251–262, Peter N. Robinson, Luitgard M. Neumann, Stephanie Demuth, Herbert Enders, Ursula Jung, Rainer König, Beate Mitulla, Dietmar Müller, Petra Muschke, Lutz Pfeiffer, Bettina Prager, Mirja Somer and Sigrid Tinschert

    Article first published online : 9 MAY 2005, DOI: 10.1002/ajmg.a.30431

  19. You have free access to this content
    Ectopia lentis as the presenting and primary feature in Marfan syndrome

    American Journal of Medical Genetics Part A

    Volume 155, Issue 11, November 2011, Pages: 2661–2668, Neda Zadeh, Jonathan A. Bernstein, Anna Kaisa Niemi, Sarah Dugan, Andrea Kwan, David Liang, James C. Hyland, H. Eugene Hoyme, Louanne Hudgins and Melanie A. Manning

    Article first published online : 19 SEP 2011, DOI: 10.1002/ajmg.a.34245

  20. 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