Parental mosaicism of JAG1 mutations in families with Alagille syndrome.

被引:0
|
作者
Kujat, A [1 ]
Röpke, A [1 ]
Hansmann, I [1 ]
Giannakudis, I [1 ]
机构
[1] Univ Halle Wittenberg, D-4010 Halle, Germany
关键词
D O I
暂无
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
841
引用
收藏
页码:A155 / A155
页数:1
相关论文
共 50 条
  • [31] Novel JAG1 variants leading to Alagille syndrome in two Chinese cases
    Feng, Xiufang
    Ping, Jiangyuan
    Gao, Shan
    Han, Dong
    Song, Wenxia
    Li, Xiaoze
    Tao, Yilun
    Wang, Lihong
    SCIENTIFIC REPORTS, 2024, 14 (01)
  • [32] Previously Undescribed Family Mutation in the JAG1 Gene as a Cause for Alagille Syndrome
    Munoz-Aguilar, Gemma
    Domingo-Triado, Ignacio
    Maravall-Llagaria, Maria
    Alcon-Saez, Jose J.
    Rodriguez-Lopez, Raquel
    JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION, 2017, 64 (05): : E135 - E136
  • [33] Variable expression of Alagille syndrome in a family with a new JAG1 gene mutation
    Ziesenitz, Victoria C.
    Loukanov, Tsvetomir
    Glaeser, Christiane
    Gorenflo, Matthias
    CARDIOLOGY IN THE YOUNG, 2016, 26 (01) : 164 - 167
  • [34] Novel JAG1 variants leading to Alagille syndrome in two Chinese cases
    Xiufang Feng
    Jiangyuan Ping
    Shan Gao
    Dong Han
    Wenxia Song
    Xiaoze Li
    Yilun Tao
    Lihong Wang
    Scientific Reports, 14
  • [35] A novel JAG1 frameshift variant causing Alagille syndrome with incomplete penetrance
    Yang, Yang
    Wang, Hao
    CLINICAL BIOCHEMISTRY, 2022, 104 : 19 - 21
  • [36] An autosomal recessive form of Alagille-like syndrome that is not linked to JAG1
    Dyack, Sarah
    Cameron, Marianne
    Otley, Anthony
    Greer, Wenda
    GENETICS IN MEDICINE, 2007, 9 (08) : 544 - 550
  • [37] Consequences of JAG1 mutations
    Kamath, BM
    Bason, L
    Piccoli, DA
    Krantz, ID
    Spinner, NB
    JOURNAL OF MEDICAL GENETICS, 2003, 40 (12): : 891 - 895
  • [38] Alagille syndrome associated to JAG1 gene deletion. An unusual etiology
    Avila-Jaque, Diana
    Diaz, Catherine
    Pardo, Rosa
    ANDES PEDIATRICA, 2024, 95 (02): : 196 - 201
  • [39] Ozzy, a Jag1 vestibular mouse mutant, displays characteristics of Alagille syndrome
    Vrijens, Karen
    Thys, Sofie
    De Jeu, Marcel T.
    Postnov, Andrei A.
    Pfister, Markus
    Cox, Luk
    Zwijsen, An
    Van Hoof, Viviane
    Mueller, Marcus
    De Clerck, Nora M.
    De Zeeuw, Chris I.
    Van Camp, Guy
    Van Laer, Lut
    NEUROBIOLOGY OF DISEASE, 2006, 24 (01) : 28 - 40
  • [40] Two Novel Mutations in the JAG1 Gene in Pediatric Patients with Alagille Syndrome: The First Case Series in Czech Republic
    Prochazkova, Dagmar
    Borska, Romana
    Fajkusova, Lenka
    Konecna, Petra
    Hlouskova, Eliska
    Pavlovsky, Zdenek
    Slaby, Ondrej
    Pospisilova, Sarka
    DIAGNOSTICS, 2021, 11 (06)