Literature DB >> 25692887

Identification of the fourth duplication of upstream IHH regulatory elements, in a family with craniosynostosis Philadelphia type, helps to define the phenotypic characterization of these regulatory elements.

Eva Barroso1, Julia Berges-Soria, Sara Benito-Sanz, Carlos Ivan Rivera-Pedroza, María Juliana Ballesta-Martínez, Vanesa López-González, Encarna Guillen-Navarro, Karen E Heath.   

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Year:  2015        PMID： 25692887     DOI： 10.1002/ajmg.a.36811

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


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  3 in total

1.  Composition and dosage of a multipartite enhancer cluster control developmental expression of Ihh (Indian hedgehog).

Authors:  Anja J Will; Giulia Cova; Marco Osterwalder; Wing-Lee Chan; Lars Wittler; Norbert Brieske; Verena Heinrich; Jean-Pierre de Villartay; Martin Vingron; Eva Klopocki; Axel Visel; Darío G Lupiáñez; Stefan Mundlos
Journal:  Nat Genet       Date:  2017-08-28       Impact factor: 38.330

2.  Single-cell analysis identifies a key role for Hhip in murine coronal suture development.

Authors:  Greg Holmes; Ana S Gonzalez-Reiche; Madrikha Saturne; Susan M Motch Perrine; Xianxiao Zhou; Ana C Borges; Bhavana Shewale; Joan T Richtsmeier; Bin Zhang; Harm van Bakel; Ethylin Wang Jabs
Journal:  Nat Commun       Date:  2021-12-08       Impact factor: 17.694

3.  Ranking of non-coding pathogenic variants and putative essential regions of the human genome.

Authors:  Alex Wells; David Heckerman; Ali Torkamani; Li Yin; Jonathan Sebat; Bing Ren; Amalio Telenti; Julia di Iulio
Journal:  Nat Commun       Date:  2019-11-20       Impact factor: 14.919
  3 in total

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