Literature DB >> 16354995

Elevated interferon-alpha in fetal blood in the prenatal diagnosis of Aicardi-Goutières syndrome.

Carole Desanges1, Pierre Lebon, Clarisse Bauman, Edith Vuillard, Catherine Garel, Alain Cordesse, Jean François Oury, Yanick Crow, Dominique Luton.   

Abstract

A case of Aicardi-Goutières syndrome is described in a family with index cases. The diagnosis was made prenatally based on high fetal blood concentration of interferon alpha. The biological measurement could be of interest for further diagnosis of other cases. (c) 2006 S. Karger AG, Basel

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Year:  2006        PMID： 16354995     DOI： 10.1159/000089067

Source DB:  PubMed          Journal:  Fetal Diagn Ther        ISSN： 1015-3837            Impact factor:   2.587


  5 in total

1.  A Brief Historical Perspective on the Pathological Consequences of Excessive Type I Interferon Exposure In vivo.

Authors:  Yanick J Crow; Pierre Lebon; Jean-Laurent Casanova; Ion Gresser
Journal:  J Clin Immunol       Date:  2018-09-05       Impact factor: 8.317

2.  Aicardi-Goutières syndrome with emphasis on sonographic features in infancy.

Authors:  L Rossler; C Ludwig-Seibold; Ch Thiels; J Schaper
Journal:  Pediatr Radiol       Date:  2012-05-26

3.  A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi-Goutiéres syndrome associated with mtDNA deletions.

Authors:  Esther Leshinsky-Silver; Gustavo Malinger; Liat Ben-Sira; Dvora Kidron; Sarit Cohen; Shani Inbar; Tali Bezaleli; Arie Levine; Chana Vinkler; Dorit Lev; Tally Lerman-Sagie
Journal:  Eur J Hum Genet       Date:  2010-11-24       Impact factor: 4.246

4.  Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots.

Authors:  Thais Armangue; Joseph J Orsini; Asako Takanohashi; Francesco Gavazzi; Alex Conant; Nicole Ulrick; Mark A Morrissey; Norah Nahhas; Guy Helman; Heather Gordish-Dressman; Simona Orcesi; Davide Tonduti; Chloe Stutterd; Keith van Haren; Camilo Toro; Alejandro D Iglesias; Marjo S van der Knaap; Raphaela Goldbach Mansky; Anne B Moser; Richard O Jones; Adeline Vanderver
Journal:  Mol Genet Metab       Date:  2017-07-20       Impact factor: 4.797

5.  Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

Authors:  Gillian Rice; Teresa Patrick; Rekha Parmar; Claire F Taylor; Alec Aeby; Jean Aicardi; Rafael Artuch; Simon Attard Montalto; Carlos A Bacino; Bruno Barroso; Peter Baxter; Willam S Benko; Carsten Bergmann; Enrico Bertini; Roberta Biancheri; Edward M Blair; Nenad Blau; David T Bonthron; Tracy Briggs; Louise A Brueton; Han G Brunner; Christopher J Burke; Ian M Carr; Daniel R Carvalho; Kate E Chandler; Hans-Jurgen Christen; Peter C Corry; Frances M Cowan; Helen Cox; Stefano D'Arrigo; John Dean; Corinne De Laet; Claudine De Praeter; Catherine Dery; Colin D Ferrie; Kim Flintoff; Suzanna G M Frints; Angels Garcia-Cazorla; Blanca Gener; Cyril Goizet; Francoise Goutieres; Andrew J Green; Agnes Guet; Ben C J Hamel; Bruce E Hayward; Arvid Heiberg; Raoul C Hennekam; Marie Husson; Andrew P Jackson; Rasieka Jayatunga; Yong-Hui Jiang; Sarina G Kant; Amy Kao; Mary D King; Helen M Kingston; Joerg Klepper; Marjo S van der Knaap; Andrew J Kornberg; Dieter Kotzot; Wilfried Kratzer; Didier Lacombe; Lieven Lagae; Pierre Georges Landrieu; Giovanni Lanzi; Andrea Leitch; Ming J Lim; John H Livingston; Charles M Lourenco; E G Hermione Lyall; Sally A Lynch; Michael J Lyons; Daphna Marom; John P McClure; Robert McWilliam; Serge B Melancon; Leena D Mewasingh; Marie-Laure Moutard; Ken K Nischal; John R Ostergaard; Julie Prendiville; Magnhild Rasmussen; R Curtis Rogers; Dominique Roland; Elisabeth M Rosser; Kevin Rostasy; Agathe Roubertie; Amparo Sanchis; Raphael Schiffmann; Sabine Scholl-Burgi; Sunita Seal; Stavit A Shalev; C Sierra Corcoles; Gyan P Sinha; Doriette Soler; Ronen Spiegel; John B P Stephenson; Uta Tacke; Tiong Yang Tan; Marianne Till; John L Tolmie; Pam Tomlin; Federica Vagnarelli; Enza Maria Valente; Rudy N A Van Coster; Nathalie Van der Aa; Adeline Vanderver; Johannes S H Vles; Thomas Voit; Evangeline Wassmer; Bernhard Weschke; Margo L Whiteford; Michel A A Willemsen; Andreas Zankl; Sameer M Zuberi; Simona Orcesi; Elisa Fazzi; Pierre Lebon; Yanick J Crow
Journal:  Am J Hum Genet       Date:  2007-09-04       Impact factor: 11.025
  5 in total

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