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There are 121729 results for: content related to: Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

  1. 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

  2. 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

    Version of Record online : 4 DEC 2013, DOI: 10.1111/cge.12314

  3. 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

    Version of Record online : 11 JUL 2006, DOI: 10.1002/ajmg.a.31353

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

    Clinical Genetics

    Volume 86, Issue 3, September 2014, Pages: 238–245, S. Sheikhzadeh, C. Sondermann, M. Rybczynski, C.R. Habermann, L. Brockstaedt, B. Keyser, H. Kaemmerer, T. Mir, A. Staebler, P.N. Robinson, K. Kutsche, J. Berger, S. Blankenberg and Y. von Kodolitsch

    Version of Record online : 23 SEP 2013, DOI: 10.1111/cge.12264

  5. 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

    Version of Record online : 20 JUL 2011, DOI: 10.1002/humu.21525

  6. 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

    Version of Record online : 10 JUL 2014, DOI: 10.1111/cge.12436

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

    American Journal of Medical Genetics Part A

    Volume 167, Issue 8, August 2015, Pages: 1747–1757, 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

    Version of Record online : 5 MAY 2015, DOI: 10.1002/ajmg.a.37085

  8. Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes

    Human Mutation

    Volume 36, Issue 8, August 2015, Pages: 808–814, Dorien Proost, Geert Vandeweyer, Josephina A.N. Meester, Simone Salemink, Marlies Kempers, Christie Ingram, Nils Peeters, Johan Saenen, Christiaan Vrints, Ronald V. Lacro, Dan Roden, Wim Wuyts, Harry C. Dietz, Geert Mortier, Bart L. Loeys and Lut Van Laer

    Version of Record online : 13 JUN 2015, DOI: 10.1002/humu.22802

  9. 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

    Version of Record online : 2 JUN 2011, DOI: 10.1111/j.1399-0004.2011.01703.x

  10. 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

  11. 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

    Version of Record online : 6 MAR 2014, DOI: 10.1111/cge.12358

  12. You have free access to this content
    WES/WGS Reporting of Mutations from Cardiovascular “Actionable” Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases

    Human Mutation

    Volume 37, Issue 12, December 2016, Pages: 1308–1317, Amélie Pinard, David Salgado, Jean-Pierre Desvignes, Ghadi Rai, Nadine Hanna, Pauline Arnaud, Céline Guien, Maria Martinez, Laurence Faivre, Guillaume Jondeau, Catherine Boileau, Stéphane Zaffran, Christophe Béroud and Gwenaëlle Collod-Béroud

    Version of Record online : 10 OCT 2016, DOI: 10.1002/humu.23119

  13. Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections

    Clinical Genetics

    Volume 89, Issue 6, June 2016, Pages: 719–723, E.S. Regalado, D.C. Guo, R.L.P. Santos-Cortez, E. Hostetler, T.A. Bensend, H. Pannu, A. Estrera, H. Safi, A.L. Mitchell, J.P. Evans, S.M. Leal, M. Bamshad, J. Shendure, D.A. Nickerson, University of Washington Center for Mendelian Genomics and D.M. Milewicz

    Version of Record online : 20 JAN 2016, DOI: 10.1111/cge.12702

  14. The genetics and pathogenesis of thoracic aortic aneurysm disorder and dissections

    Clinical Genetics

    Volume 89, Issue 6, June 2016, Pages: 639–646, L. Zhang and H.-H. Wang

    Version of Record online : 25 JAN 2016, DOI: 10.1111/cge.12713

  15. You have free access to this content
    UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity—application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2

    Human Mutation

    Volume 30, Issue 6, June 2009, Pages: 952–959, Mélissa Yana Frédéric, Marine Lalande, Catherine Boileau, Dalil Hamroun, Mireille Claustres, Christophe Béroud and Gwenaëlle Collod-Béroud

    Version of Record online : 20 JAN 2009, DOI: 10.1002/humu.20970

  16. Genetics of sudden cardiac death in the young

    Clinical Genetics

    Volume 88, Issue 2, August 2015, Pages: 101–113, J.B. Saenen, E.M. Van Craenenbroeck, D. Proost, F. Marchau, L. Van Laer, C.J. Vrints and B.L. Loeys

    Version of Record online : 22 NOV 2014, DOI: 10.1111/cge.12519

  17. You have free access to this content
    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

    Version of Record online : 9 SEP 2008, DOI: 10.1002/humu.20871

  18. 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

    Version of Record online : 4 APR 2006, DOI: 10.1002/ajmg.a.31202

  19. 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

    Version of Record online : 23 JUN 2006, DOI: 10.1002/humu.20354

  20. Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia

    Clinical Genetics

    Volume 86, Issue 4, October 2014, Pages: 326–334, N. Chassaing, A. Causse, A. Vigouroux, A. Delahaye, J.-L. Alessandri, O. Boespflug-Tanguy, O. Boute-Benejean, H. Dollfus, B. Duban-Bedu, B. Gilbert-Dussardier, F. Giuliano, M. Gonzales, M. Holder-Espinasse, B. Isidor, M.-L. Jacquemont, D. Lacombe, D. Martin-Coignard, M. Mathieu-Dramard, S. Odent, O. Picone, L. Pinson, C. Quelin, S. Sigaudy, A. Toutain, C. Thauvin-Robinet, Josseline Kaplan and Patrick Calvas

    Version of Record online : 7 OCT 2013, DOI: 10.1111/cge.12275