Literature DB >> 20425845

De novo deletion of 1q24.3-q31.2 in a patient with severe growth retardation.

Akira Nishimura1, Yoko Hiraki, Hiroko Shimoda, Gen Nishimura, Hiromi Tadaki, Yoshinori Tsurusaki, Noriko Miyake, Hirotomo Saitsu, Naomichi Matsumoto.   

Abstract

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Year:  2010        PMID： 20425845     DOI： 10.1002/ajmg.a.33371

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


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  4 in total

1.  Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25.

Authors:  Deepika D'Cunha Burkardt; Jill A Rosenfeld; Maria L Helgeson; Brad Angle; Valerie Banks; Wendy E Smith; Karen W Gripp; Jessica Moline; Rocio T Moran; Dmitriy M Niyazov; Cathy A Stevens; Elaine Zackai; Robert Roger Lebel; Douglas G Ashley; Nancy Kramer; Ralph S Lachman; John M Graham
Journal:  Am J Med Genet A       Date:  2011-05-05       Impact factor: 2.802

Review 2.  MicroRNAs in orthopaedic research: Disease associations, potential therapeutic applications, and perspectives.

Authors:  Audrey McAlinden; Gun-Il Im
Journal:  J Orthop Res       Date:  2017-12-19       Impact factor: 3.494

3.  Delineation of the 1q24.3 microdeletion syndrome provides further evidence for the potential role of non-coding RNAs in regulating the skeletal phenotype.

Authors:  James L Shepherdson; Hongjun Zheng; Ina E Amarillo; Audrey McAlinden; Marwan Shinawi
Journal:  Bone       Date:  2020-10-22       Impact factor: 4.398

4.  1q25.2-q31.3 Deletion in a female with mental retardation, clinodactyly, minor facial anomalies but no growth retardation.

Authors:  Ping Hu; Yan Wang; Lu-Lu Meng; Ling Qin; Ding-Yuan Ma; Long Yi; Zheng-Feng Xu
Journal:  Mol Cytogenet       Date:  2013-08-06       Impact factor: 2.009
  4 in total

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