Mutation analysis of the L1CAM gene in 200 patients

被引:0
|
作者
Vos, YJ
Verlind, E
Kooistra, A
Stolte-Dijkstra, I
Kerstjens-Frederikse, WS
机构
[1] Univ Groningen Hosp, Groningen, Netherlands
[2] Univ Groningen, Groningen, Netherlands
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
2418
引用
收藏
页码:580 / 580
页数:1
相关论文
共 50 条
  • [41] Prenatal diagnosis of a nonsense mutation in the L1CAM gene resulting in congenital hydrocephalus: A case report and literature review
    Wang, Rongyue
    Chen, Hua
    Wang, Xiaona
    Huang, Shiyuan
    Xie, Ailan
    Wu, Xinmei
    EXPERIMENTAL AND THERAPEUTIC MEDICINE, 2021, 22 (06)
  • [42] L1CAM links regeneration to metastasis
    Gloria Pascual
    Salvador A. Benitah
    Nature Cancer, 2020, 1 : 22 - 24
  • [43] L1CAM: Cell adhesion and more
    Samatov, Timur R.
    Wicklein, Daniel
    Tonevitsky, Alexander G.
    PROGRESS IN HISTOCHEMISTRY AND CYTOCHEMISTRY, 2016, 51 (02) : 25 - 32
  • [44] L1 Syndrome Prenatal Diagnosis Supplemented by Functional Analysis of One L1CAM Gene Missense Variant
    Wang, Ping
    Liao, Hong
    Wang, Quyou
    Xie, Hanbing
    Wang, He
    Yang, Mei
    Liu, Shanling
    REPRODUCTIVE SCIENCES, 2022, 29 (03) : 768 - 780
  • [45] L1 Syndrome Prenatal Diagnosis Supplemented by Functional Analysis of One L1CAM Gene Missense Variant
    Ping Wang
    Hong Liao
    Quyou Wang
    Hanbing Xie
    He Wang
    Mei Yang
    Shanling Liu
    Reproductive Sciences, 2022, 29 : 768 - 780
  • [46] Three cases with L1 syndrome and two novel mutations in the L1CAM gene
    Rosario Marín
    Miriam Ley-Martos
    Gema Gutiérrez
    Felicidad Rodríguez-Sánchez
    Diego Arroyo
    Francisco Mora-López
    European Journal of Pediatrics, 2015, 174 : 1541 - 1544
  • [47] Three cases with L1 syndrome and two novel mutations in the L1CAM gene
    Marin, Rosario
    Ley-Martos, Miriam
    Gutierrez, Gema
    Rodriguez-Sanchez, Felicidad
    Arroyo, Diego
    Mora-Lopez, Francisco
    EUROPEAN JOURNAL OF PEDIATRICS, 2015, 174 (11) : 1541 - 1544
  • [48] Prenatal Identification of a Novel R937P L1CAM Missense Mutation
    Wilson, Patrick L.
    Kattman, Brandi Blaisdell
    Mulvihill, John J.
    Li, Shibo
    Wilkins, Jesse
    Wagner, Andrew F.
    Goodman, Jean R.
    GENETIC TESTING AND MOLECULAR BIOMARKERS, 2009, 13 (04) : 515 - 519
  • [49] L1CAM mutation in association with X-linked hydrocephalus and Hirschsprung's disease
    Jackson, Sha-Ron
    Guner, Yigit S.
    Woo, Russell
    Randolph, Linda M.
    Ford, Henri
    Shin, Cathy E.
    PEDIATRIC SURGERY INTERNATIONAL, 2009, 25 (09) : 823 - 825
  • [50] L1CAM mutation in association with X-linked hydrocephalus and Hirschsprung’s disease
    Sha-Ron Jackson
    Yigit S. Guner
    Russell Woo
    Linda M. Randolph
    Henri Ford
    Cathy E. Shin
    Pediatric Surgery International, 2009, 25 : 823 - 825