Literature DB >> 28990699

Novel AMER1 frameshift mutation in a girl with osteopathia striata with cranial sclerosis.

Yumi Enomoto1, Yoshinori Tsurusaki1, Noriaki Harada2, Noriko Aida3, Kenji Kurosawa4.   

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Year:  2017        PMID： 28990699     DOI： 10.1111/cga.12258

Source DB:  PubMed          Journal:  Congenit Anom (Kyoto)        ISSN： 0914-3505            Impact factor:   1.409


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  7 in total

1.  Whole Exome Sequencing Provides the Correct Diagnosis in a Case of Osteopathia Striata with Cranial Sclerosis: Case Report of a Novel Frameshift Mutation in AMER1.

Authors:  José María García-Aznar; Noelia Ramírez; David De Uña; Elisa Santiago; Lorenzo Monserrat
Journal:  J Pediatr Genet       Date:  2020-04-21

2.  Discordant phenotype caused by CASK mutation in siblings with NF1.

Authors:  Hiroaki Murakami; Yuichi Kimura; Yumi Enomoto; Yoshinori Tsurusaki; Moe Akahira-Azuma; Yukiko Kuroda; Megumi Tsuji; Tomohide Goto; Kenji Kurosawa
Journal:  Hum Genome Var       Date:  2019-04-26

3.  A severe form of Ellis-van Creveld syndrome caused by novel mutations in EVC2.

Authors:  Ikuko Ohashi; Yumi Enomoto; Takuya Naruto; Yoshinori Tsurusaki; Yukiko Kuroda; Hiroshi Ishikawa; Makiko Ohyama; Noriko Aida; Gen Nishimura; Kenji Kurosawa
Journal:  Hum Genome Var       Date:  2019-08-26

4.  Deletion of Exon 1 in AMER1 in Osteopathia Striata with Cranial Sclerosis.

Authors:  Jingyi Mi; Padmini Parthasarathy; Benjamin J Halliday; Tim Morgan; John Dean; Malgorzata J M Nowaczyk; David Markie; Stephen P Robertson; Emma M Wade
Journal:  Genes (Basel)       Date:  2020-11-30       Impact factor: 4.096

5.  Intellectual disability-associated gain-of-function mutations in CERT1 that encodes the ceramide transport protein CERT.

Authors:  Hiroaki Murakami; Norito Tamura; Yumi Enomoto; Kentaro Shimasaki; Kenji Kurosawa; Kentaro Hanada
Journal:  PLoS One       Date:  2020-12-21       Impact factor: 3.240

6.  Novel WTX nonsense mutation in a family diagnosed with osteopathia striata with cranial sclerosis: Case report.

Authors:  Changhoon Jeong; Myungshin Kim; Jisook Yim; Il-Jung Park; Jiwon Lee; Jaeyoung Lee
Journal:  Medicine (Baltimore)       Date:  2021-10-08       Impact factor: 1.889

7.  Novel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly.

Authors:  Yota Sato; Jun Shibasaki; Noriko Aida; Kazuya Hiiragi; Yuichi Kimura; Moe Akahira-Azuma; Yumi Enomoto; Yoshinori Tsurusaki; Kenji Kurosawa
Journal:  Hum Genome Var       Date:  2018-04-24
  7 in total

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