Literature DB >> 26508578

Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches.

Mine Arslan-Kirchner1, Eloisa Arbustini2, Catherine Boileau3, Philippe Charron4, Anne H Child5, Gwenaelle Collod-Beroud6, Julie De Backer7, Anne De Paepe7, Anna Dierking1, Laurence Faivre8, Sabine Hoffjan9, Guillaume Jondeau10, Britta Keyser1, Bart Loeys11, Karin Mayer12, Peter N Robinson13, Jörg Schmidtke1.   

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Year:  2015        PMID: 26508578      PMCID: PMC4795237          DOI: 10.1038/ejhg.2015.225

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


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  19 in total

1.  2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM guidelines for the diagnosis and management of patients with Thoracic Aortic Disease: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines, American Association for Thoracic Surgery, American College of Radiology, American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons, and Society for Vascular Medicine.

Authors:  Loren F Hiratzka; George L Bakris; Joshua A Beckman; Robert M Bersin; Vincent F Carr; Donald E Casey; Kim A Eagle; Luke K Hermann; Eric M Isselbacher; Ella A Kazerooni; Nicholas T Kouchoukos; Bruce W Lytle; Dianna M Milewicz; David L Reich; Souvik Sen; Julie A Shinn; Lars G Svensson; David M Williams
Journal:  Circulation       Date:  2010-03-16       Impact factor: 29.690

2.  2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC).

Authors:  Raimund Erbel; Victor Aboyans; Catherine Boileau; Eduardo Bossone; Roberto Di Bartolomeo; Holger Eggebrecht; Arturo Evangelista; Volkmar Falk; Herbert Frank; Oliver Gaemperli; Martin Grabenwöger; Axel Haverich; Bernard Iung; Athanasios John Manolis; Folkert Meijboom; Christoph A Nienaber; Marco Roffi; Hervé Rousseau; Udo Sechtem; Per Anton Sirnes; Regula S von Allmen; Christiaan J M Vrints
Journal:  Eur Heart J       Date:  2014-08-29       Impact factor: 29.983

Review 3.  CT angiographic evaluation of genetic vascular disease: role in detection, staging, and management of complex vascular pathologic conditions.

Authors:  Linda C Chu; Pamela T Johnson; Harry C Dietz; Elliot K Fishman
Journal:  AJR Am J Roentgenol       Date:  2014-05       Impact factor: 3.959

4.  Familial thoracic aortic aneurysms and dissections--incidence, modes of inheritance, and phenotypic patterns.

Authors:  Gonzalo Albornoz; Michael A Coady; Michele Roberts; Ryan R Davies; Maryann Tranquilli; John A Rizzo; John A Elefteriades
Journal:  Ann Thorac Surg       Date:  2006-10       Impact factor: 4.330

5.  MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections.

Authors:  Mathieu Barbier; Marie-Sylvie Gross; Mélodie Aubart; Nadine Hanna; Ketty Kessler; Dong-Chuan Guo; Laurent Tosolini; Benoit Ho-Tin-Noe; Ellen Regalado; Mathilde Varret; Marianne Abifadel; Olivier Milleron; Sylvie Odent; Sophie Dupuis-Girod; Laurence Faivre; Thomas Edouard; Yves Dulac; Tiffany Busa; Laurent Gouya; Dianna M Milewicz; Guillaume Jondeau; Catherine Boileau
Journal:  Am J Hum Genet       Date:  2014-11-26       Impact factor: 11.025

6.  MAT2A mutations predispose individuals to thoracic aortic aneurysms.

Authors:  Dong-chuan Guo; Limin Gong; Ellen S Regalado; Regie L Santos-Cortez; Ren Zhao; Bo Cai; Sudha Veeraraghavan; Siddharth K Prakash; Ralph J Johnson; Ann Muilenburg; Marcia Willing; Guillaume Jondeau; Catherine Boileau; Hariyadarshi Pannu; Rocio Moran; Julie Debacker; Michael J Bamshad; Jay Shendure; Deborah A Nickerson; Suzanne M Leal; C S Raman; Eric C Swindell; Dianna M Milewicz
Journal:  Am J Hum Genet       Date:  2014-12-31       Impact factor: 11.025

7.  Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV).

Authors:  Melanie G Pepin; Ulrike Schwarze; Kenneth M Rice; Mingdong Liu; Dru Leistritz; Peter H Byers
Journal:  Genet Med       Date:  2014-06-12       Impact factor: 8.822

8.  Response to Pyeritz et al.

Authors:  Gretchen MacCarrick; Bart Loeys; Harry C Dietz
Journal:  Genet Med       Date:  2014-08       Impact factor: 8.822

9.  Loeys-Dietz syndrome is a specific phenotype and not a concomitant of any mutation in a gene involved in TGF-β signaling.

Authors:  Reed Pyeritz; Guillaume Jondeau; Rocio Moran; Julie De Backer; Eloisa Arbustini; Anne De Paepe; Dianna Milewicz
Journal:  Genet Med       Date:  2014-08       Impact factor: 8.822

10.  Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections.

Authors:  Aida M Bertoli-Avella; Elisabeth Gillis; Hiroko Morisaki; Judith M A Verhagen; Bianca M de Graaf; Gerarda van de Beek; Elena Gallo; Boudewijn P T Kruithof; Hanka Venselaar; Loretha A Myers; Steven Laga; Alexander J Doyle; Gretchen Oswald; Gert W A van Cappellen; Itaru Yamanaka; Robert M van der Helm; Berna Beverloo; Annelies de Klein; Luba Pardo; Martin Lammens; Christina Evers; Koenraad Devriendt; Michiel Dumoulein; Janneke Timmermans; Hennie T Bruggenwirth; Frans Verheijen; Inez Rodrigus; Gareth Baynam; Marlies Kempers; Johan Saenen; Emeline M Van Craenenbroeck; Kenji Minatoya; Ritsu Matsukawa; Takuro Tsukube; Noriaki Kubo; Robert Hofstra; Marie Jose Goumans; Jos A Bekkers; Jolien W Roos-Hesselink; Ingrid M B H van de Laar; Harry C Dietz; Lut Van Laer; Takayuki Morisaki; Marja W Wessels; Bart L Loeys
Journal:  J Am Coll Cardiol       Date:  2015-04-07       Impact factor: 24.094

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  11 in total

1.  New EuroGentest/ESHG guidelines and a new clinical utility gene card format for NGS-based testing.

Authors:  Gert Matthijs; Anna Dierking; Jörg Schmidtke
Journal:  Eur J Hum Genet       Date:  2015-10-28       Impact factor: 4.246

2.  Postmortem genetic testing should be recommended in sudden cardiac death cases due to thoracic aortic dissection.

Authors:  Marina Gago-Díaz; Eva Ramos-Luis; Silvia Zoppis; Esther Zorio; Pilar Molina; Aitana Braza-Boïls; Juan Giner; Beatriz Sobrino; Jorge Amigo; Alejandro Blanco-Verea; Ángel Carracedo; María Brion
Journal:  Int J Legal Med       Date:  2017-04-08       Impact factor: 2.686

3.  Genetic diagnostics of inherited aortic diseases : Medical strategy analysis.

Authors:  Y von Kodolitsch; K Kutsche
Journal:  Herz       Date:  2017-08       Impact factor: 1.443

4.  Navigating the Phenotype Frontier: The Monarch Initiative.

Authors:  Julie A McMurry; Sebastian Köhler; Nicole L Washington; James P Balhoff; Charles Borromeo; Matthew Brush; Seth Carbon; Tom Conlin; Nathan Dunn; Mark Engelstad; Erin Foster; Jean-Philippe Gourdine; Julius O B Jacobsen; Daniel Keith; Bryan Laraway; Jeremy Nguyen Xuan; Kent Shefchek; Nicole A Vasilevsky; Zhou Yuan; Suzanna E Lewis; Harry Hochheiser; Tudor Groza; Damian Smedley; Peter N Robinson; Christopher J Mungall; Melissa A Haendel
Journal:  Genetics       Date:  2016-08       Impact factor: 4.562

5.  Analysis of the contribution of 129 candidate genes to thoracic aortic aneurysm or dissection of a mixed cohort of sporadic and familial cases in South China.

Authors:  Ying Li; Miaoxian Fang; Jue Yang; Changjiang Yu; Juntao Kuang; Tucheng Sun; Ruixin Fan
Journal:  Am J Transl Res       Date:  2021-05-15       Impact factor: 4.060

6.  Whole-Exome Sequencing Identified Genes Responsible for Thoracic Aortic Aneurysms and Dissections in three Chinese Families.

Authors:  Renle Guo; Pengcheng Du; Yifei Pei; Jin Yang; Shuangshuang Li; Sheng Chang; Huiying Sun; Xiaomin He; Jian Dong; Jian Zhou; Zaiping Jing
Journal:  Front Genet       Date:  2022-06-08       Impact factor: 4.772

7.  Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection.

Authors:  Marjolijn Renard; Catherine Francis; Rajarshi Ghosh; Alan F Scott; P Dane Witmer; Lesley C Adès; Gregor U Andelfinger; Pauline Arnaud; Catherine Boileau; Bert L Callewaert; Dongchuan Guo; Nadine Hanna; Mark E Lindsay; Hiroko Morisaki; Takayuki Morisaki; Nicholas Pachter; Leema Robert; Lut Van Laer; Harry C Dietz; Bart L Loeys; Dianna M Milewicz; Julie De Backer
Journal:  J Am Coll Cardiol       Date:  2018-08-07       Impact factor: 24.094

Review 8.  The role of the multidisciplinary health care team in the management of patients with Marfan syndrome.

Authors:  Yskert von Kodolitsch; Meike Rybczynski; Marina Vogler; Thomas S Mir; Helke Schüler; Kerstin Kutsche; Georg Rosenberger; Christian Detter; Alexander M Bernhardt; Axel Larena-Avellaneda; Tilo Kölbel; E Sebastian Debus; Malte Schroeder; Stephan J Linke; Bettina Fuisting; Barbara Napp; Anna Lena Kammal; Klaus Püschel; Peter Bannas; Boris A Hoffmann; Nele Gessler; Eva Vahle-Hinz; Bärbel Kahl-Nieke; Götz Thomalla; Christina Weiler-Normann; Gunda Ohm; Stefan Neumann; Dieter Benninghoven; Stefan Blankenberg; Reed E Pyeritz
Journal:  J Multidiscip Healthc       Date:  2016-11-03

9.  A proposal of a new evaluation framework towards implementation of genetic tests.

Authors:  Erica Pitini; Elvira D'Andrea; Corrado De Vito; Annalisa Rosso; Brigid Unim; Carolina Marzuillo; Antonio Federici; Emilio Di Maria; Paolo Villari
Journal:  PLoS One       Date:  2019-08-05       Impact factor: 3.240

10.  Systematic Review of Studies That Have Evaluated Screening Tests in Relatives of Patients Affected by Nonsyndromic Thoracic Aortic Disease.

Authors:  Giovanni Mariscalco; Radoslaw Debiec; John A Elefteriades; Nilesh J Samani; Gavin J Murphy
Journal:  J Am Heart Assoc       Date:  2018-08-07       Impact factor: 5.501

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