Literature DB >> 21796731

GLI3 is rarely implicated in OFD syndromes with midline abnormalities.

M Avila, N Gigot, B Aral, P Callier, E Gautier, J Thevenon, L Pasquier, E Lopez, L Gueneau, L Duplomb, A Goldenberg, C Baumann, V Cormier, S Marlin, A Masurel-Paulet, F Huet, T Attié-Bitach, L Faivre, C Thauvin-Robinet.   

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Year:  2011        PMID： 21796731     DOI： 10.1002/humu.21570

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  2 in total

1.  Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.

Authors:  Andrea Poretti; Giuseppina Vitiello; Raoul C M Hennekam; Filippo Arrigoni; Enrico Bertini; Renato Borgatti; Francesco Brancati; Stefano D'Arrigo; Francesca Faravelli; Lucio Giordano; Thierry A G M Huisman; Miriam Iannicelli; Gerhard Kluger; Marten Kyllerman; Magnus Landgren; Melissa M Lees; Lorenzo Pinelli; Romina Romaniello; Ianina Scheer; Christoph E Schwarz; Ronen Spiegel; Daniel Tibussek; Enza Maria Valente; Eugen Boltshauser
Journal:  Orphanet J Rare Dis       Date:  2012-01-11       Impact factor: 4.123

2.  New insights into genotype-phenotype correlation for GLI3 mutations.

Authors:  Florence Démurger; Amale Ichkou; Soumaya Mougou-Zerelli; Martine Le Merrer; Géraldine Goudefroye; Anne-Lise Delezoide; Chloé Quélin; Sylvie Manouvrier; Geneviève Baujat; Mélanie Fradin; Laurent Pasquier; André Megarbané; Laurence Faivre; Clarisse Baumann; Sheela Nampoothiri; Joëlle Roume; Bertrand Isidor; Didier Lacombe; Marie-Ange Delrue; Sandra Mercier; Nicole Philip; Elise Schaefer; Muriel Holder; Amanda Krause; Fanny Laffargue; Martine Sinico; Daniel Amram; Gwenaelle André; Alain Liquier; Massimiliano Rossi; Jeanne Amiel; Fabienne Giuliano; Odile Boute; Anne Dieux-Coeslier; Marie-Line Jacquemont; Alexandra Afenjar; Lionel Van Maldergem; Marylin Lackmy-Port-Lis; Catherine Vincent-Delorme; Marie-Liesse Chauvet; Valérie Cormier-Daire; Louise Devisme; David Geneviève; Arnold Munnich; Géraldine Viot; Odile Raoul; Serge Romana; Marie Gonzales; Ferechte Encha-Razavi; Sylvie Odent; Michel Vekemans; Tania Attie-Bitach
Journal:  Eur J Hum Genet       Date:  2014-04-16       Impact factor: 4.246
  2 in total

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