Literature DB >> 20372188

Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1].

Mine Arslan-Kirchner1, Eloisa Arbustini, Catherine Boileau, Anne Child, Gwenaelle Collod-Beroud, Anne De Paepe, Jörg Epplen, Guillaume Jondeau, Bart Loeys, Laurence Faivre.   

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Year:  2010        PMID： 20372188      PMCID： PMC2987429          DOI： 10.1038/ejhg.2010.42

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


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  31 in total

1.  Rapid and efficient FBN1 mutation detection using automated sample preparation and direct sequencing as the primary strategy.

Authors:  Lena Tjeldhorn; Svend Rand-Hendriksen; Kristina Gervin; Kristin Brandal; Elin Inderhaug; Odd Geiran; Benedicte Paus
Journal:  Genet Test       Date:  2006

2.  Revised diagnostic criteria for the Marfan syndrome.

Authors:  A De Paepe; R B Devereux; H C Dietz; R C Hennekam; R E Pyeritz
Journal:  Am J Med Genet       Date:  1996-04-24

3.  Strategies for prenatal and preimplantation genetic diagnosis in Marfan syndrome (MFS).

Authors:  B Loeys; L Nuytinck; P Van Acker; S Walraedt; M Bonduelle; K Sermon; B Hamel; A Sanchez; L Messiaen; A De Paepe
Journal:  Prenat Diagn       Date:  2002-01       Impact factor: 3.050

4.  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

5.  Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies.

Authors:  Eloisa Arbustini; Maurizia Grasso; Silvia Ansaldi; Clara Malattia; Andrea Pilotto; Emanuele Porcu; Eliana Disabella; Nicola Marziliano; Angela Pisani; Luca Lanzarini; Savina Mannarino; Daniela Larizza; Mario Mosconi; Elena Antoniazzi; M Cristina Zoia; Giulia Meloni; Lorenzo Magrassi; Agnese Brega; Maria Francesca Bedeschi; Isabella Torrente; Francesca Mari; Luigi Tavazzi
Journal:  Hum Mutat       Date:  2005-11       Impact factor: 4.878

6.  Sequence variations in the 5' upstream regions of the FBN1 gene associated with Marfan syndrome.

Authors:  Krishna Kumar Singh; Praphulla Chandra Shukla; Kathrin Rommel; Jörg Schmidtke; Mine Arslan-Kirchner
Journal:  Eur J Hum Genet       Date:  2006-04-12       Impact factor: 4.246

Review 7.  Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.

Authors:  Gwenaëlle Collod-Béroud; Saga Le Bourdelles; Lesley Ades; Leena Ala-Kokko; Patrick Booms; Maureen Boxer; Anne Child; Paolo Comeglio; Anne De Paepe; James C Hyland; Katerine Holman; Ilkka Kaitila; Bart Loeys; Gabor Matyas; Lieve Nuytinck; Leena Peltonen; Terhi Rantamaki; Peter Robinson; Beat Steinmann; Claudine Junien; Christophe Béroud; Catherine Boileau
Journal:  Hum Mutat       Date:  2003-09       Impact factor: 4.878

8.  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

9.  The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.

Authors:  Paolo Comeglio; Philip Johnson; Gavin Arno; Glen Brice; Alison Evans; José Aragon-Martin; Filipe Pereira da Silva; Anatoli Kiotsekoglou; Anne Child
Journal:  Hum Mutat       Date:  2007-09       Impact factor: 4.878

10.  Is ectopia lentis in some cases a mild phenotypic expression of Marfan syndrome? Need for a long-term follow-up.

Authors:  Guglielmina Pepe; Ilaria Lapini; Lucia Evangelisti; Monica Attanasio; Betti Giusti; Laura Lucarini; Rossella Fattori; Giannantonio Pellicanò; Mario Scrivanti; Maria Cristina Porciani; Rosanna Abbate; Gian Franco Gensini
Journal:  Mol Vis       Date:  2007-11-29       Impact factor: 2.367
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  6 in total

Review 1.  Non-cardiac manifestations of Marfan syndrome.

Authors:  Anne H Child
Journal:  Ann Cardiothorac Surg       Date:  2017-11

Review 2.  Athletes and the Aorta: Normal Adaptations and the Diagnosis and Management of Pathology.

Authors:  J Stephen Hedley; Dermot Phelan
Journal:  Curr Treat Options Cardiovasc Med       Date:  2017-10-09

3.  Design and rationale of a prospective, collaborative meta-analysis of all randomized controlled trials of angiotensin receptor antagonists in Marfan syndrome, based on individual patient data: A report from the Marfan Treatment Trialists' Collaboration.

Authors:  Alex Pitcher; Jonathan Emberson; Ronald V Lacro; Lynn A Sleeper; Mario Stylianou; Lynn Mahony; Gail D Pearson; Maarten Groenink; Barbara J Mulder; Aeilko H Zwinderman; Julie De Backer; Anne M De Paepe; Eloisa Arbustini; Guliz Erdem; Xu Yu Jin; Marcus D Flather; Michael J Mullen; Anne H Child; Alberto Forteza; Arturo Evangelista; Hsin-Hui Chiu; Mei-Hwan Wu; George Sandor; Ami B Bhatt; Mark A Creager; Richard B Devereux; Bart Loeys; J Colin Forfar; Stefan Neubauer; Hugh Watkins; Catherine Boileau; Guillaume Jondeau; Harry C Dietz; Colin Baigent
Journal:  Am Heart J       Date:  2015-02-12       Impact factor: 4.749

4.  De Novo Paternal FBN1 Mutation Detected in Embryos Before Implantation.

Authors:  Shuling Wang; Ziru Niu; Hui Wang; Minyue Ma; Wei Zhang; Shu Fang Wang; Jun Wang; Hong Yan; Yifan Liu; Na Duan; Xiandong Zhang; Yuanqing Yao
Journal:  Med Sci Monit       Date:  2017-06-26

5.  Genetic testing of 248 Chinese aortopathy patients using a panel assay.

Authors:  Hang Yang; Mingyao Luo; Yuanyuan Fu; Yandong Cao; Kunlun Yin; Wenke Li; Chunjie Meng; Yanyun Ma; Jing Zhang; Yuxin Fan; Chang Shu; Qian Chang; Zhou Zhou
Journal:  Sci Rep       Date:  2016-09-09       Impact factor: 4.379

6.  A Novel Heterozygous Intronic Mutation in the FBN1 Gene Contributes to FBN1 RNA Missplicing Events in the Marfan Syndrome.

Authors:  Mario Torrado; Emilia Maneiro; Juan Pablo Trujillo-Quintero; Arturo Evangelista; Alexander T Mikhailov; Lorenzo Monserrat
Journal:  Biomed Res Int       Date:  2018-05-29       Impact factor: 3.411
  6 in total

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