Literature DB >> 21522183

Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes.

Mine Arslan-Kirchner1, Jörg T Epplen, Laurence Faivre, Guillaume Jondeau, Jörg Schmidtke, Anne De Paepe, Bart Loeys.   

Abstract

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Year:  2011        PMID： 21522183      PMCID： PMC3190257          DOI： 10.1038/ejhg.2011.68

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  14 in total

1.  A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.

Authors:  Bart L Loeys; Junji Chen; Enid R Neptune; Daniel P Judge; Megan Podowski; Tammy Holm; Jennifer Meyers; Carmen C Leitch; Nicholas Katsanis; Neda Sharifi; F Lauren Xu; Loretha A Myers; Philip J Spevak; Duke E Cameron; Julie De Backer; Jan Hellemans; Yan Chen; Elaine C Davis; Catherine L Webb; Wolfram Kress; Paul Coucke; Daniel B Rifkin; Anne M De Paepe; Harry C Dietz
Journal:  Nat Genet       Date:  2005-01-30       Impact factor: 38.330

2.  TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome.

Authors:  Krishna Kumar Singh; Kathrin Rommel; Anjali Mishra; Matthias Karck; Axel Haverich; Jörg Schmidtke; Mine Arslan-Kirchner
Journal:  Hum Mutat       Date:  2006-08       Impact factor: 4.878

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

Authors:  Yoriko Watanabe; Haruya Sakai; Akira Nishimura; Noriko Miyake; Hirotomo Saitsu; Takeshi Mizuguchi; Naomichi Matsumoto
Journal:  Am J Med Genet A       Date:  2008-12-01       Impact factor: 2.802

4.  Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes.

Authors:  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; Naomichi Matsumoto
Journal:  Am J Med Genet A       Date:  2006-08-15       Impact factor: 2.802

5.  Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders.

Authors:  David Attias; Chantal Stheneur; Carine Roy; Gwenaëlle Collod-Béroud; Delphine Detaint; Laurence Faivre; Marie-Ange Delrue; Laurence Cohen; Christine Francannet; Christophe Béroud; Mireille Claustres; Franck Iserin; Philippe Khau Van Kien; Didier Lacombe; Martine Le Merrer; Stanislas Lyonnet; Sylvie Odent; Henri Plauchu; Marlène Rio; Annick Rossi; Daniel Sidi; Philippe Gabriel Steg; Philippe Ravaud; Catherine Boileau; Guillaume Jondeau
Journal:  Circulation       Date:  2009-12-07       Impact factor: 29.690

6.  Aneurysm syndromes caused by mutations in the TGF-beta receptor.

Authors:  Bart L Loeys; Ulrike Schwarze; Tammy Holm; Bert L Callewaert; George H Thomas; Hariyadarshi Pannu; Julie F De Backer; Gretchen L Oswald; Sofie Symoens; Sylvie Manouvrier; Amy E Roberts; Francesca Faravelli; M Alba Greco; Reed E Pyeritz; Dianna M Milewicz; Paul J Coucke; Duke E Cameron; Alan C Braverman; Peter H Byers; Anne M De Paepe; Harry C Dietz
Journal:  N Engl J Med       Date:  2006-08-24       Impact factor: 91.245

7.  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.

Authors:  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; Catherine Boileau
Journal:  Hum Mutat       Date:  2008-11       Impact factor: 4.878

8.  Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes.

Authors:  Brian Hon-Yin Chung; Stephen Tak-Sum Lam; Tony Ming-For Tong; Susanna Yuk-Han Li; Kin-Shing Lun; Daniel Hon-Chuen Chan; Susanna Fung-Shan Fok; June Siu-Fong Or; David Keith Smith; Wanling Yang; Yu-Lung Lau
Journal:  Am J Med Genet A       Date:  2009-07       Impact factor: 2.802

9.  Absence of TGFBR1 and TGFBR2 mutations in patients with bicuspid aortic valve and aortic dilation.

Authors:  Cammon B Arrington; C Todd Sower; Naomi Chuckwuk; Jeff Stevens; Mark F Leppert; Anji T Yetman; Neil E Bowles
Journal:  Am J Cardiol       Date:  2008-06-26       Impact factor: 2.778

10.  Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations.

Authors:  V Tran-Fadulu; H Pannu; D H Kim; G W Vick; C M Lonsford; A L Lafont; C Boccalandro; S Smart; K L Peterson; J Zenger Hain; M C Willing; J S Coselli; S A LeMaire; C Ahn; P H Byers; D M Milewicz
Journal:  J Med Genet       Date:  2009-06-18       Impact factor: 6.318
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  9 in total

Review 1.  Loeys-Dietz syndrome: cardiovascular, neuroradiological and musculoskeletal imaging findings.

Authors:  Vivek B Kalra; John W Gilbert; Ajay Malhotra
Journal:  Pediatr Radiol       Date:  2011-07-23

2.  Aortic dissection and stroke in a 37-year-old woman: discovering an emerging heritable connective tissue disorder.

Authors:  Alessio Pieroni; Marco Castori; Paolo Caso; Eugenio Di Bernardini; Manuela De Michele; Marco Ritelli; Marina Colombi; Danilo Toni
Journal:  Intern Emerg Med       Date:  2015-01-15       Impact factor: 3.397

Review 3.  Conditions presenting with symptoms of peripheral arterial disease.

Authors:  Aditya M Sharma; Patrick T Norton; Daisy Zhu
Journal:  Semin Intervent Radiol       Date:  2014-12       Impact factor: 1.513

4.  RET is a potential tumor suppressor gene in colorectal cancer.

Authors:  Y Luo; K D Tsuchiya; D Il Park; R Fausel; S Kanngurn; P Welcsh; S Dzieciatkowski; J Wang; W M Grady
Journal:  Oncogene       Date:  2012-07-02       Impact factor: 9.867

5.  A rare cause of recurrent aortic dissection.

Authors:  Yashwant Agrawal; Vishal Gupta
Journal:  J Saudi Heart Assoc       Date:  2015-11-21

6.  Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome.

Authors:  Michael T Zimmermann; Raul A Urrutia; Patrick R Blackburn; Margot A Cousin; Nicole J Boczek; Eric W Klee; Colleen Macmurdo; Paldeep S Atwal
Journal:  Case Rep Genet       Date:  2017-01-09

Review 7.  Loeys-Dietz syndrome: a primer for diagnosis and management.

Authors:  Gretchen MacCarrick; James H Black; Sarah Bowdin; Ismail El-Hamamsy; Pamela A Frischmeyer-Guerrerio; Anthony L Guerrerio; Paul D Sponseller; Bart Loeys; Harry C Dietz
Journal:  Genet Med       Date:  2014-02-27       Impact factor: 8.822

8.  Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations.

Authors:  J K Poninska; Z T Bilinska; M Franaszczyk; E Michalak; M Rydzanicz; E Szpakowski; A Pollak; B Milanowska; G Truszkowska; P Chmielewski; A Sioma; H Janaszek-Sitkowska; A Klisiewicz; I Michalowska; M Makowiecka-Ciesla; P Kolsut; P Stawinski; B Foss-Nieradko; M Szperl; J Grzybowski; P Hoffman; A Januszewicz; M Kusmierczyk; R Ploski
Journal:  J Transl Med       Date:  2016-05-04       Impact factor: 5.531

9.  A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.

Authors:  Dorien Schepers; Giada Tortora; Hiroko Morisaki; Gretchen MacCarrick; Mark Lindsay; David Liang; Sarju G Mehta; Jennifer Hague; Judith Verhagen; Ingrid van de Laar; Marja Wessels; Yvonne Detisch; Mieke van Haelst; Annette Baas; Klaske Lichtenbelt; Kees Braun; Denise van der Linde; Jolien Roos-Hesselink; George McGillivray; Josephina Meester; Isabelle Maystadt; Paul Coucke; Elie El-Khoury; Sandhya Parkash; Birgitte Diness; Lotte Risom; Ingrid Scurr; Yvonne Hilhorst-Hofstee; Takayuki Morisaki; Julie Richer; Julie Désir; Marlies Kempers; Andrea L Rideout; Gabrielle Horne; Chris Bennett; Elisa Rahikkala; Geert Vandeweyer; Maaike Alaerts; Aline Verstraeten; Hal Dietz; Lut Van Laer; Bart Loeys
Journal:  Hum Mutat       Date:  2018-03-06       Impact factor: 4.878
  9 in total

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