Literature DB >> 25604859

Clinical utility gene card for: Arterial tortuosity syndrome.

Juliette Albuisson1,2,3, Pamela Moceri4,5, Elisabeth Flori6, Emre Belli7, Céline Gronier8, Xavier Jeunemaitre1,2,3.   

Abstract

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Year:  2015        PMID： 25604859      PMCID： PMC4592088          DOI： 10.1038/ejhg.2014.294

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


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  9 in total

1.  Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families.

Authors:  M Faiyaz-Ul-Haque; S H E Zaidi; A A Wahab; A Eltohami; M S Al-Mureikhi; G Al-Thani; V D Peltekova; L-C Tsui; A S Teebi
Journal:  Clin Genet       Date:  2008-06-28       Impact factor: 4.438

2.  Giant aortic aneurysm in an infant with arterial tortuosity syndrome.

Authors:  David Kalfa; Céline Gronier; Mohamedou Ly; Emmanuel Le Bret; Régine Roussin; Emre Belli
Journal:  Ann Thorac Surg       Date:  2012-08       Impact factor: 4.330

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

Authors:  Pamela Moceri; Juliette Albuisson; Marie Saint-Faust; Florence Casagrande; Fabienne Giuliano; Caroline Devos; Philippe Benoit; Nicolas Hugues; Dorothée Ducreux; Pierre Cerboni; Christian Dageville; Xavier Jeunemaitre
Journal:  J Am Coll Cardiol       Date:  2013-02-19       Impact factor: 24.094

4.  Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency.

Authors:  Marjolijn Renard; Tammy Holm; Regan Veith; Bert L Callewaert; Lesley C Adès; Osman Baspinar; Angela Pickart; Majed Dasouki; Juliane Hoyer; Anita Rauch; Pamela Trapane; Michael G Earing; Paul J Coucke; Lynn Y Sakai; Harry C Dietz; Anne M De Paepe; Bart L Loeys
Journal:  Eur J Hum Genet       Date:  2010-04-14       Impact factor: 4.246

5.  Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with a novel homozygous c.1411+1G>A mutation in the SLC2A10 gene.

Authors:  Marco Castori; Marco Ritelli; Nicoletta Zoppi; Luisa Molisso; Nicola Chiarelli; Fulvio Zaccagna; Paola Grammatico; Marina Colombi
Journal:  Am J Med Genet A       Date:  2012-04-09       Impact factor: 2.802

6.  Longer term survival of a child with autosomal recessive cutis laxa due to a mutation in FBLN4.

Authors:  Sarah L Sawyer; Frank Dicke; Adam Kirton; Thilinie Rajapkse; Ivan M Rebeyka; Brenda McInnes; Jillian S Parboosingh; Francois P Bernier
Journal:  Am J Med Genet A       Date:  2013-03-26       Impact factor: 2.802

7.  Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome.

Authors:  Paul J Coucke; Andy Willaert; Marja W Wessels; Bert Callewaert; Nicoletta Zoppi; Julie De Backer; Joyce E Fox; Grazia M S Mancini; Marios Kambouris; Rita Gardella; Fabio Facchetti; Patrick J Willems; Ramses Forsyth; Harry C Dietz; Sergio Barlati; Marina Colombi; Bart Loeys; Anne De Paepe
Journal:  Nat Genet       Date:  2006-03-19       Impact factor: 38.330

8.  Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.

Authors:  B L Callewaert; A Willaert; W S Kerstjens-Frederikse; J De Backer; K Devriendt; B Albrecht; M A Ramos-Arroyo; M Doco-Fenzy; R C M Hennekam; R E Pyeritz; O N Krogmann; G Gillessen-kaesbach; E L Wakeling; S Nik-zainal; C Francannet; P Mauran; C Booth; M Barrow; R Dekens; B L Loeys; P J Coucke; A M De Paepe
Journal:  Hum Mutat       Date:  2008-01       Impact factor: 4.878

9.  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
  9 in total
  1 in total

1.  Clinical Variability in Two Macedonian Families with Arterial Tortuosity Syndrome.

Authors:  M Kocova; R Kacarska; K Kuzevska-Maneva; S Prijic; M Lazareska; C Dordoni; M Ritelli; M Colombi
Journal:  Balkan J Med Genet       Date:  2018-10-29       Impact factor: 0.519
  1 in total

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