Literature DB >> 5762119

Dysplasia of the systemic and pulmonary arterial system with tortuosity and lengthening of the arteries. A new entity, diagnosed during life, and leading to coronary death in early childhood.

A J Beuren, W Hort, H Kalbfleisch, H Müller, J Stoermer.   

Abstract

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Year:  1969        PMID： 5762119     DOI： 10.1161/01.cir.39.1.109

Source DB:  PubMed          Journal:  Circulation        ISSN： 0009-7322            Impact factor:   29.690


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  7 in total

1.  Arterial tortuosity syndrome.

Authors:  Raghavan Subramanyan; Anuradha Sridhar; Kotturathu Cherian
Journal:  Pediatr Cardiol       Date:  2009-03-18       Impact factor: 1.655

2.  Epilepsy as the first presentation of arterial tortuosity syndrome in a young girl: a case report.

Authors:  Sheng Chen; Yuan Hong; Prativa Sherchan; Jian-Min Zhang
Journal:  Turk Neurosurg       Date:  2014       Impact factor: 1.003

3.  A novel non-sense mutation in the SLC2A10 gene of an arterial tortuosity syndrome patient of Kurdish origin.

Authors:  Syed H E Zaidi; Sascha Meyer; Vanya D Peltekova; Angelika Lindinger; Ahmad S Teebi; Muhammad Faiyaz-Ul-Haque
Journal:  Eur J Pediatr       Date:  2008-09-26       Impact factor: 3.183

4.  Arterial tortuosity syndrome in two Italian paediatric patients.

Authors:  Marco Ritelli; Bruno Drera; Mariano Vicchio; Giovanni Puppini; Paolo Biban; Mara Pilati; Maria Antonia Prioli; Sergio Barlati; Marina Colombi
Journal:  Orphanet J Rare Dis       Date:  2009-09-25       Impact factor: 4.123

5.  Imaging findings in a distinct lethal inherited arteriopathy syndrome associated with a novel mutation in the FBLN4 gene.

Authors:  Ramiah Rajeshkannan; Chinmay kulkarni; Mahesh Kappanayil; Sheela Nampoothiri; Fransiska Malfait; Anne De Paepe; Srikanth Moorthy
Journal:  Eur Radiol       Date:  2014-05-17       Impact factor: 5.315

Review 6.  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

7.  Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis.

Authors:  Mahesh Kappanayil; Sheela Nampoothiri; Rajesh Kannan; Marjolijn Renard; Paul Coucke; Fransiska Malfait; Swapna Menon; Hiran K Ravindran; Renu Kurup; Muhammad Faiyaz-Ul-Haque; Krishna Kumar; Anne De Paepe
Journal:  Orphanet J Rare Dis       Date:  2012-09-03       Impact factor: 4.123
  7 in total

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