Literature DB >> 23410549

Arterial tortuosity syndrome: early diagnosis and association with venous tortuosity.

Pamela Moceri1, Juliette Albuisson, Marie Saint-Faust, Florence Casagrande, Fabienne Giuliano, Caroline Devos, Philippe Benoit, Nicolas Hugues, Dorothée Ducreux, Pierre Cerboni, Christian Dageville, Xavier Jeunemaitre.   

Abstract

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Year:  2013        PMID： 23410549     DOI： 10.1016/j.jacc.2012.06.070

Source DB:  PubMed          Journal:  J Am Coll Cardiol        ISSN： 0735-1097            Impact factor:   24.094


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  4 in total

1.  Clinical utility gene card for: Arterial tortuosity syndrome.

Authors:  Juliette Albuisson; Pamela Moceri; Elisabeth Flori; Emre Belli; Céline Gronier; Xavier Jeunemaitre
Journal:  Eur J Hum Genet       Date:  2015-01-21       Impact factor: 4.246

Review 2.  Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review.

Authors:  Marco Ritelli; Nicola Chiarelli; Chiara Dordoni; Elena Reffo; Marina Venturini; Stefano Quinzani; Matteo Della Monica; Gioacchino Scarano; Giuseppe Santoro; Maria Giovanna Russo; Piergiacomo Calzavara-Pinton; Ornella Milanesi; Marina Colombi
Journal:  BMC Med Genet       Date:  2014-11-06       Impact factor: 2.103

3.  Neonatal Arterial Tortuosity and Adult Aortic Aneurysm-Is There a Missing Link?-A Case Report.

Authors:  Srabani Bharadwaj; Charmaine Chan; Jonathan Choo Tze Liang; Sarat Kumar Sanamandra; Marielle Valerie Fortier; Ai Ling Koh; Sreekanthan Sundararaghavan
Journal:  Front Pediatr       Date:  2022-03-15       Impact factor: 3.418

4.  Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders.

Authors:  Eline Overwater; Luisa Marsili; Marieke J H Baars; Annette F Baas; Irma van de Beek; Eelco Dulfer; Johanna M van Hagen; Yvonne Hilhorst-Hofstee; Marlies Kempers; Ingrid P Krapels; Leonie A Menke; Judith M A Verhagen; Kak K Yeung; Petra J G Zwijnenburg; Maarten Groenink; Peter van Rijn; Marjan M Weiss; Els Voorhoeve; J Peter van Tintelen; Arjan C Houweling; Alessandra Maugeri
Journal:  Hum Mutat       Date:  2018-07-12       Impact factor: 4.878
  4 in total

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