Literature DB >> 16098019

Syndromic and non-syndromic GLI3 phenotypes.

L G Biesecker, J Johnston.   

Abstract

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Year:  2005        PMID： 16098019     DOI： 10.1111/j.1399-0004.2005.0485a.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  5 in total

1.  The disruption of a novel limb cis-regulatory element of SHH is associated with autosomal dominant preaxial polydactyly-hypertrichosis.

Authors:  Florence Petit; Anne-Sophie Jourdain; Muriel Holder-Espinasse; Boris Keren; Joris Andrieux; Martine Duterque-Coquillaud; Nicole Porchet; Sylvie Manouvrier-Hanu; Fabienne Escande
Journal:  Eur J Hum Genet       Date:  2015-03-18       Impact factor: 4.246

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

Review 3.  Preaxial polydactyly of the foot.

Authors:  Elise B Burger; Martijn Baas; Steven E R Hovius; A Jeannette M Hoogeboom; Christianne A van Nieuwenhoven
Journal:  Acta Orthop       Date:  2017-09-26       Impact factor: 3.717

4.  Novel GLI3 variant causes Greig cephalopolysyndactyly syndrome in three generations of a Lithuanian family.

Authors:  Evelina Siavrienė; Violeta Mikštienė; Darius Radzevičius; Živilė Maldžienė; Tautvydas Rančelis; Gunda Petraitytė; Giedrė Tamulytė; Ingrida Kavaliauskienė; Laurynas Šarkinas; Algirdas Utkus; Vaidutis Kučinskas; Eglė Preikšaitienė
Journal:  Mol Genet Genomic Med       Date:  2019-07-20       Impact factor: 2.183

Review 5.  Molecular Bases of Human Malformation Syndromes Involving the SHH Pathway: GLIA/R Balance and Cardinal Phenotypes.

Authors:  Yo Niida; Sumihito Togi; Hiroki Ura
Journal:  Int J Mol Sci       Date:  2021-12-02       Impact factor: 5.923
  5 in total

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