Literature DB >> 17937431

Preliminary molecular studies on blepharocheilodontic syndrome.

Erika L Freitas1, Ciro D Martinhago, Ester S Ramos, Jeffrey C Murray, Vera L Gil-da-Silva-Lopes.   

Abstract

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Year:  2007        PMID: 17937431     DOI: 10.1002/ajmg.a.32010

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


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  4 in total

1.  DLX4 is associated with orofacial clefting and abnormal jaw development.

Authors:  Di Wu; Shyamali Mandal; Alex Choi; August Anderson; Michaela Prochazkova; Hazel Perry; Vera L Gil-Da-Silva-Lopes; Richard Lao; Eunice Wan; Paul Ling-Fung Tang; Pui-yan Kwok; Ophir Klein; Bian Zhuan; Anne M Slavotinek
Journal:  Hum Mol Genet       Date:  2015-05-07       Impact factor: 6.150

2.  Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.

Authors:  Anneke Kievit; Federico Tessadori; Hannie Douben; Ingrid Jordens; Madelon Maurice; Jeannette Hoogeboom; Raoul Hennekam; Sheela Nampoothiri; Hülya Kayserili; Marco Castori; Margo Whiteford; Connie Motter; Catherine Melver; Michael Cunningham; Anne Hing; Nancy M Kokitsu-Nakata; Siulan Vendramini-Pittoli; Antonio Richieri-Costa; Annette F Baas; Corstiaan C Breugem; Karen Duran; Maarten Massink; Patrick W B Derksen; Wilfred F J van IJcken; Leontine van Unen; Fernando Santos-Simarro; Pablo Lapunzina; Vera L Gil-da Silva Lopes; Elaine Lustosa-Mendes; Max Krall; Anne Slavotinek; Victor Martinez-Glez; Jeroen Bakkers; Koen L I van Gassen; Annelies de Klein; Marie-José H van den Boogaard; Gijs van Haaften
Journal:  Eur J Hum Genet       Date:  2018-01-18       Impact factor: 4.246

3.  Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1.

Authors:  Jamal Ghoumid; Morgane Stichelbout; Anne-Sophie Jourdain; Frederic Frenois; Sophie Lejeune-Dumoulin; Marie-Pierre Alex-Cordier; Marine Lebrun; Pierre Guerreschi; Veronique Duquennoy-Martinot; Matthieu Vinchon; Joel Ferri; Matthieu Jung; Serge Vicaire; Clemence Vanlerberghe; Fabienne Escande; Florence Petit; Sylvie Manouvrier-Hanu
Journal:  Genet Med       Date:  2017-03-16       Impact factor: 8.822

Review 4.  Clinical spectrum and pleiotropic nature of CDH1 germline mutations.

Authors:  Joana Figueiredo; Soraia Melo; Patrícia Carneiro; Ana Margarida Moreira; Maria Sofia Fernandes; Ana Sofia Ribeiro; Parry Guilford; Joana Paredes; Raquel Seruca
Journal:  J Med Genet       Date:  2019-01-19       Impact factor: 6.318

  4 in total

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