| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Rongyue Wang, Hua Chen, Xiaona Wang, Shiyuan Huang, Ailan Xie, Xinmei W. Prenatal diagnosis of a nonsense mutation in the L1CAM gene resulting in congenital hydrocephalus: A case report and literature review. Experimental and therapeutic medicine. vol 22. issue 6. 2021-10-23. PMID:34676009. |
prenatal diagnosis of a nonsense mutation in the l1cam gene resulting in congenital hydrocephalus: a case report and literature review. |
2021-10-23 |
2023-08-13 |
Not clear |
| Rongyue Wang, Hua Chen, Xiaona Wang, Shiyuan Huang, Ailan Xie, Xinmei W. Prenatal diagnosis of a nonsense mutation in the L1CAM gene resulting in congenital hydrocephalus: A case report and literature review. Experimental and therapeutic medicine. vol 22. issue 6. 2021-10-23. PMID:34676009. |
congenital hydrocephalus is frequently caused by mutations in the l1 cell adhesion molecule (l1cam) gene. |
2021-10-23 |
2023-08-13 |
Not clear |
| Dewei Guo, Yuting Shi, Wenyan Jian, Yimei Fu, Hui Yang, Manhui Guo, Wenjing Yong, Gang Chen, Huan Deng, Yan Qin, Weihua Liao, Ruojin Ya. A novel nonsense mutation in the L1CAM gene responsible for X-linked congenital hydrocephalus. The journal of gene medicine. vol 22. issue 7. 2021-07-19. PMID:32128973. |
a novel nonsense mutation in the l1cam gene responsible for x-linked congenital hydrocephalus. |
2021-07-19 |
2023-08-13 |
Not clear |
| Dewei Guo, Yuting Shi, Wenyan Jian, Yimei Fu, Hui Yang, Manhui Guo, Wenjing Yong, Gang Chen, Huan Deng, Yan Qin, Weihua Liao, Ruojin Ya. A novel nonsense mutation in the L1CAM gene responsible for X-linked congenital hydrocephalus. The journal of gene medicine. vol 22. issue 7. 2021-07-19. PMID:32128973. |
mutation of l1cam gene is the most frequent cause of congenital hydrocephalus, contributing to approximately 30% of x-linked congenital hydrocephalus. |
2021-07-19 |
2023-08-13 |
Not clear |
| Florent Marguet, Myriam Vezain, Pascale Marcorelles, Séverine Audebert-Bellanger, Kévin Cassinari, Nathalie Drouot, Pascal Chambon, Bruno J Gonzalez, Arie Horowitz, Annie Laquerriere, Pascale Saugier-Vebe. Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants. Acta neuropathologica communications. vol 9. issue 1. 2021-07-12. PMID:34092257. |
whereas inherited syndromic hydrocephalus has been associated with more than 100 disease-causing genes, only four genes are currently known to be linked to congenital hydrocephalus either isolated or as a major clinical feature: l1cam, ap1s2, mpdz and ccdc88c. |
2021-07-12 |
2023-08-13 |
Not clear |
| Weiqi Kong, Xueyan Wang, Jing Zhao, Min Kang, Na Xi, Shengmei L. A new frameshift mutation in L1CAM producing X-linked hydrocephalus. Molecular genetics & genomic medicine. vol 8. issue 1. 2021-03-29. PMID:31756056. |
a new frameshift mutation in l1cam producing x-linked hydrocephalus. |
2021-03-29 |
2023-08-13 |
Not clear |
| Weiqi Kong, Xueyan Wang, Jing Zhao, Min Kang, Na Xi, Shengmei L. A new frameshift mutation in L1CAM producing X-linked hydrocephalus. Molecular genetics & genomic medicine. vol 8. issue 1. 2021-03-29. PMID:31756056. |
x-linked hydrocephalus (xlh), characterized by mental retardation and bilateral adducted thumbs, often come out to be a genetic disorder of l1cam. |
2021-03-29 |
2023-08-13 |
Not clear |
| Weiqi Kong, Xueyan Wang, Jing Zhao, Min Kang, Na Xi, Shengmei L. A new frameshift mutation in L1CAM producing X-linked hydrocephalus. Molecular genetics & genomic medicine. vol 8. issue 1. 2021-03-29. PMID:31756056. |
the objective of the study was to report a new disease-causing mutation site of l1cam, and gain further insight into the pathophysiology of hydrocephalus. |
2021-03-29 |
2023-08-13 |
Not clear |
| A Scott Emmert, Shawn M Vuong, Crystal Shula, Diana Lindquist, Weihong Yuan, Yueh-Chiang Hu, Francesco T Mangano, June Got. Characterization of a novel rat model of X-linked hydrocephalus by CRISPR-mediated mutation in L1cam. Journal of neurosurgery. vol 132. issue 3. 2021-01-26. PMID:30738385. |
characterization of a novel rat model of x-linked hydrocephalus by crispr-mediated mutation in l1cam. |
2021-01-26 |
2023-08-13 |
human |
| A Scott Emmert, Shawn M Vuong, Crystal Shula, Diana Lindquist, Weihong Yuan, Yueh-Chiang Hu, Francesco T Mangano, June Got. Characterization of a novel rat model of X-linked hydrocephalus by CRISPR-mediated mutation in L1cam. Journal of neurosurgery. vol 132. issue 3. 2021-01-26. PMID:30738385. |
the authors used this method to generate a transgenic rat l1cam knockout model of x-linked hydrocephalus (xlh) with human genetic etiology. |
2021-01-26 |
2023-08-13 |
human |
| Qichang Wu, Li Sun, Yasong Xu, Xiaomei Yang, Shiyu Sun, Wenbo Wan. [Diagnosis of a fetus with X-linked hydrocephalus due to mutation of L1CAM gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. vol 36. issue 9. 2019-09-24. PMID:31515785. |
[diagnosis of a fetus with x-linked hydrocephalus due to mutation of l1cam gene]. |
2019-09-24 |
2023-08-13 |
Not clear |
| Honglei Duan, Guangfeng Zhao, Yaping Wang, Xiangyu Zhu, Jie L. Novel missense mutation of L1CAM in a fetus with isolated hydrocephalus. Congenital anomalies. vol 58. issue 5. 2019-08-29. PMID:29292840. |
novel missense mutation of l1cam in a fetus with isolated hydrocephalus. |
2019-08-29 |
2023-08-13 |
Not clear |
| Shuang Hu, Li Wang, Ning Liu, Xiangdong Kon. [Analysis of L1CAM gene mutation in pedigrees with X-linked genetic hydrocephalus]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. vol 36. issue 5. 2019-08-15. PMID:31030434. |
[analysis of l1cam gene mutation in pedigrees with x-linked genetic hydrocephalus]. |
2019-08-15 |
2023-08-13 |
Not clear |
| Shuang Hu, Li Wang, Ning Liu, Xiangdong Kon. [Analysis of L1CAM gene mutation in pedigrees with X-linked genetic hydrocephalus]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. vol 36. issue 5. 2019-08-15. PMID:31030434. |
to analyze l1cam gene mutation in a family featuring x-linked recurrent fetal hydrocephalus. |
2019-08-15 |
2023-08-13 |
Not clear |
| Ranad Shaheen, Mohammed Adeeb Sebai, Nisha Patel, Nour Ewida, Wesam Kurdi, Ikhlass Altweijri, Sameera Sogaty, Elham Almardawi, Mohammed Zain Seidahmed, Abdulrahman Alnemri, Sateesh Madirevula, Niema Ibrahim, Firdous Abdulwahab, Mais Hashem, Tarfa Al-Sheddi, Rana Alomar, Eman Alobeid, Bahauddin Sallout, Badi AlBaqawi, Wajeih AlAali, Nouf Ajaji, Harry Lesmana, Robert J Hopkin, Lucie Dupuis, Roberto Mendoza-Londono, Hadeel Al Rukban, Grace Yoon, Eissa Faqeih, Fowzan S Alkuray. The genetic landscape of familial congenital hydrocephalus. Annals of neurology. vol 81. issue 6. 2017-07-19. PMID:28556411. |
to date, only 4 genes are known to cause mendelian diseases in which congenital hydrocephalus is the main or sole clinical feature, 2 x-linked (l1cam and ap1s2) and 2 autosomal recessive (ccdc88c and mpdz). |
2017-07-19 |
2023-08-13 |
Not clear |
| Rosangela Ferese, Stefania Zampatti, Anna Maria Pia Griguoli, Francesco Fornai, Emiliano Giardina, Giuseppe Barrano, Veronica Albano, Rosa Campopiano, Simona Scala, Giuseppe Novelli, Stefano Gambardell. A New Splicing Mutation in the L1CAM Gene Responsible for X-Linked Hydrocephalus (HSAS). Journal of molecular neuroscience : MN. vol 59. issue 3. 2017-03-16. PMID:27207492. |
a new splicing mutation in the l1cam gene responsible for x-linked hydrocephalus (hsas). |
2017-03-16 |
2023-08-13 |
Not clear |
| Rosangela Ferese, Stefania Zampatti, Anna Maria Pia Griguoli, Francesco Fornai, Emiliano Giardina, Giuseppe Barrano, Veronica Albano, Rosa Campopiano, Simona Scala, Giuseppe Novelli, Stefano Gambardell. A New Splicing Mutation in the L1CAM Gene Responsible for X-Linked Hydrocephalus (HSAS). Journal of molecular neuroscience : MN. vol 59. issue 3. 2017-03-16. PMID:27207492. |
in the present study, we describe a novel l1cam mutation in a 33-year-old woman reporting two voluntary terminations of pregnancy due to fetal hydrocephalus. |
2017-03-16 |
2023-08-13 |
Not clear |
| I Ochando, V Vidal, J Gascón, M Acién, A Urbano, J Rued. Prenatal diagnosis of X-linked hydrocephalus in a family with a novel mutation in L1CAM gene. Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology. vol 36. issue 3. 2017-01-30. PMID:26471711. |
prenatal diagnosis of x-linked hydrocephalus in a family with a novel mutation in l1cam gene. |
2017-01-30 |
2023-08-13 |
Not clear |
| Rosario Marín, Miriam Ley-Martos, Gema Gutiérrez, Felicidad Rodríguez-Sánchez, Diego Arroyo, Francisco Mora-Lópe. Three cases with L1 syndrome and two novel mutations in the L1CAM gene. European journal of pediatrics. vol 174. issue 11. 2016-08-25. PMID:25948108. |
mutations in the l1cam gene have been identified in the following various x-linked neurological disorders: congenital hydrocephalus; mental retardation, aphasia, shuffling gait, and adducted thumbs (masa) syndrome; spastic paraplegia; and agenesis of the corpus callosum. |
2016-08-25 |
2023-08-13 |
Not clear |
| Kyoko Itoh, Shinji Fushik. The role of L1cam in murine corticogenesis, and the pathogenesis of hydrocephalus. Pathology international. vol 65. issue 2. 2015-09-28. PMID:25641508. |
the role of l1cam in murine corticogenesis, and the pathogenesis of hydrocephalus. |
2015-09-28 |
2023-08-13 |
mouse |