Literature DB >> 26847959

Simpson-Golabi-Behmel syndrome: a prenatal diagnosis in a foetus with GPC3 and GPC4 gene microduplications.

F Mujezinović1, D Krgović2, A Blatnik2, B Zagradišnik2, T V Vipotnik3, Tč Golec4, N Tul5, N Kokalj Vokač2,6.   

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Year:  2016        PMID： 26847959     DOI： 10.1111/cge.12725

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  5 in total

1.  Two Consecutive Pregnancies with Simpson-Golabi-Behmel Syndrome Type 1: Case Report and Review of Published Prenatal Cases.

Authors:  Konstantin Ridnõi; Elvira Kurvinen; Sander Pajusalu; Tiia Reimand; Katrin Õunap
Journal:  Mol Syndromol       Date:  2018-06-08

2.  A prenatal case of Simpson-Golabi-Behmel syndrome type 1 with a 0.26-Mb deletion fragment at Xq26.2 inherited from mother: Case report.

Authors:  Jing Sha; Fangfang Tan; Ying Liu; Zaochun Xu; Xuezhen Wang; Jingfang Zhai
Journal:  Medicine (Baltimore)       Date:  2022-04-22       Impact factor: 1.817

3.  Whole exome sequencing aids the diagnosis of Simpson-Golabi-Behmel syndrome in two male fetuses.

Authors:  Jingjing Xiang; Qin Zhang; Xiaoyan Song; Yinghua Liu; Haibo Li; Hong Li; Ting Wang
Journal:  J Int Med Res       Date:  2019-07-15       Impact factor: 1.671

4.  FOXN1 forms higher-order nuclear condensates displaced by mutations causing immunodeficiency.

Authors:  Ioanna A Rota; Adam E Handel; Stefano Maio; Fabian Klein; Fatima Dhalla; Mary E Deadman; Stanley Cheuk; Joseph A Newman; Yale S Michaels; Saulius Zuklys; Nicolas Prevot; Philip Hublitz; Philip D Charles; Athina Soragia Gkazi; Eleni Adamopoulou; Waseem Qasim; Edward Graham Davies; Imelda Hanson; Alistair T Pagnamenta; Carme Camps; Helene M Dreau; Andrea White; Kieran James; Roman Fischer; Opher Gileadi; Jenny C Taylor; Tudor Fulga; B Christoffer Lagerholm; Graham Anderson; Erdinc Sezgin; Georg A Holländer
Journal:  Sci Adv       Date:  2021-12-03       Impact factor: 14.136

Review 5.  Prenatal case of Simpson-Golabi-Behmel syndrome with a de novo 370Kb-sized microdeletion of Xq26.2 compassing partial GPC3 gene and review.

Authors:  Jing Liu; Qin Liu; Shuting Yang; Na Ma; Jialun Pang; Ying Peng; Hui Xi; Zhengjun Jia; Yingchun Luo; Meiping Jiang; Yanling Teng; Wenxian Yu; Zhuo Li; Hua Wang
Journal:  Mol Genet Genomic Med       Date:  2021-07-22       Impact factor: 2.183
  5 in total

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