Literature DB >> 25735804

A novel mutation in RNU4ATAC in a patient with microcephalic osteodysplastic primordial dwarfism type I.

Esra Kilic1, Gökhan Yigit, Gülen Eda Utine, Bernd Wollnik, Ercan Mihci, Banu Güzel Nur, Koray Boduroglu.   

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Year:  2015        PMID： 25735804     DOI： 10.1002/ajmg.a.36955

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


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  6 in total

1.  The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome.

Authors:  Laura S Farach; Mary E Little; Angela L Duker; Clare V Logan; Andrew Jackson; Jaqueline T Hecht; Michael Bober
Journal:  Am J Med Genet A       Date:  2017-12-19       Impact factor: 2.802

2.  Lowry-Wood syndrome: further evidence of association with RNU4ATAC, and correlation between genotype and phenotype.

Authors:  Ivan Shelihan; Sophie Ehresmann; Cinzia Magnani; Francesca Forzano; Chiara Baldo; Nicola Brunetti-Pierri; Philippe M Campeau
Journal:  Hum Genet       Date:  2018-10-27       Impact factor: 4.132

3.  Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1.

Authors:  Anne B Krøigård; Andrew P Jackson; Louise S Bicknell; Emma Baple; Klaus Brusgaard; Lars K Hansen; Lilian B Ousager
Journal:  Clin Dysmorphol       Date:  2016-04       Impact factor: 0.816

4.  Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.

Authors:  Daniele Merico; Maian Roifman; Ulrich Braunschweig; Ryan K C Yuen; Roumiana Alexandrova; Andrea Bates; Brenda Reid; Thomas Nalpathamkalam; Zhuozhi Wang; Bhooma Thiruvahindrapuram; Paul Gray; Alyson Kakakios; Jane Peake; Stephanie Hogarth; David Manson; Raymond Buncic; Sergio L Pereira; Jo-Anne Herbrick; Benjamin J Blencowe; Chaim M Roifman; Stephen W Scherer
Journal:  Nat Commun       Date:  2015-11-02       Impact factor: 14.919

5.  Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly.

Authors:  Ye Wang; Xueli Wu; Liu Du; Ju Zheng; Songqing Deng; Xin Bi; Qiuyan Chen; Hongning Xie; Claude Férec; David N Cooper; Yanmin Luo; Qun Fang; Jian-Min Chen
Journal:  Hum Genomics       Date:  2018-01-25       Impact factor: 4.639

6.  Expanding the phenotype of biallelic RNPC3 variants associated with growth hormone deficiency.

Authors:  Eline A Verberne; Sonja Faries; Marcel M A M Mannens; Alex V Postma; Mieke M van Haelst
Journal:  Am J Med Genet A       Date:  2020-05-28       Impact factor: 2.802
  6 in total

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