Literature DB >> 15264293

Mutations in IRF6 do not cause Bartsocas-Papas syndrome in a family with two affected sibs.

A L Shanske, S A Hoper, K Krahn, B C Schutte.   

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Year:  2004        PMID： 15264293     DOI： 10.1002/ajmg.a.30096

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


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  3 in total

1.  Genomic strategy identifies a missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome.

Authors:  Nicholas K Rorick; Akira Kinoshita; Jason L Weirather; Myriam Peyrard-Janvid; Renata L L Ferreira de Lima; Martine Dunnwald; Alan L Shanske; Danilo Moretti-Ferreira; Hannele Koillinen; Juha Kere; Maria A Mansilla; Jeffrey C Murray; Steve L Goudy; Brian C Schutte
Journal:  Am J Med Genet A       Date:  2011-05-13       Impact factor: 2.802

2.  Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders.

Authors:  Elizabeth J Leslie; James O'Sullivan; Michael L Cunningham; Ankur Singh; Steven L Goudy; Faroug Ababneh; Lamia Alsubaie; Gaik-Siew Ch'ng; Ingrid M B H van der Laar; A Jeannette M Hoogeboom; Martine Dunnwald; Seema Kapoor; Pawina Jiramongkolchai; Jennifer Standley; J Robert Manak; Jeffrey C Murray; Michael J Dixon
Journal:  Am J Med Genet A       Date:  2015-03       Impact factor: 2.802

3.  Exome sequence identifies RIPK4 as the Bartsocas-Papas syndrome locus.

Authors:  Karen Mitchell; James O'Sullivan; Caterina Missero; Ed Blair; Rose Richardson; Beverley Anderson; Dario Antonini; Jeffrey C Murray; Alan L Shanske; Brian C Schutte; Rose-Anne Romano; Satrajit Sinha; Sanjeev S Bhaskar; Graeme C M Black; Jill Dixon; Michael J Dixon
Journal:  Am J Hum Genet       Date:  2011-12-22       Impact factor: 11.025
  3 in total

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