Literature DB >> 17103452

The G397A (E133K) change in the AGGF1 (VG5Q) gene is a single nucleotide polymorphism in the Spanish population.

Silvia Gutierrez1, Luis Magano, Alicia Delicado, María A Mori, María L de Torres, Luis Fernández, María Palomares, Eva Fernández, Gemma R Tarduchy, Jesús Molano, Ricardo Gracia, Isidora López Pajares, Pablo Lapunzina.   

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Year:  2006        PMID: 17103452     DOI: 10.1002/ajmg.a.31532

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


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  6 in total

Review 1.  Venous malformation: update on aetiopathogenesis, diagnosis and management.

Authors:  A Dompmartin; M Vikkula; L M Boon
Journal:  Phlebology       Date:  2010-10       Impact factor: 1.740

2.  Germline Mutations in RASA1 Are Not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb Overgrowth.

Authors:  N Revencu; L M Boon; A Dompmartin; P Rieu; W L Busch; J Dubois; F Forzano; J M van Hagen; S Halbach; A Kuechler; A M A Lachmeijer; J Lähde; L Russell; K O J Simola; J B Mulliken; M Vikkula
Journal:  Mol Syndromol       Date:  2013-04-11

3.  A review of vascular anomalies: genetics and common syndromes.

Authors:  Elizabeth Killion; Kriti Mohan; Edward I Lee
Journal:  Semin Plast Surg       Date:  2014-05       Impact factor: 2.314

4.  Novel roles of GATA1 in regulation of angiogenic factor AGGF1 and endothelial cell function.

Authors:  Chun Fan; Ping Ouyang; Ayse A Timur; Ping He; Sun-Ah You; Ying Hu; Tie Ke; David J Driscoll; Qiuyun Chen; Qing Kenneth Wang
Journal:  J Biol Chem       Date:  2009-06-25       Impact factor: 5.157

Review 5.  Genetics, epigenetics and pharmaco-(epi)genomics in angiogenesis.

Authors:  Ian Buysschaert; Thomas Schmidt; Carmen Roncal; Peter Carmeliet; Diether Lambrechts
Journal:  J Cell Mol Med       Date:  2008-12       Impact factor: 5.310

6.  Genetic syndromes with vascular malformations - update on molecular background and diagnostics.

Authors:  Adam Ustaszewski; Joanna Janowska-Głowacka; Katarzyna Wołyńska; Anna Pietrzak; Magdalena Badura-Stronka
Journal:  Arch Med Sci       Date:  2020-02-25       Impact factor: 3.318

  6 in total

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