Human Genome Epidemiology Literature Finder
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Records 1 - 6 (of 6 Records) |
| Query Trace: Lissencephaly and PAFAH1B1[original query] |
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| A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion. BMC medical genetics 2014 15 (1): 62. Du Xiaonan, An Yu, Yu Lifei, Liu Renchao, Qin Yanrong, Guo Xiaohong, Sun Daokan, Zhou Shuizhen, Wu Bailin, Jiang Yong-Hui, Wang |
| Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration disorders. PloS one 2017 9 12 (9): e0185103. González-Morón Dolores, Vishnopolska Sebastián, Consalvo Damián, Medina Nancy, Marti Marcelo, Córdoba Marta, Vazquez-Dusefante Cecilia, Claverie Santiago, Rodríguez-Quiroga Sergio Alejandro, Vega Patricia, Silva Walter, Kochen Silvia, Kauffman Marcelo Andr |
| Identification of a novel PAFAH1B1 missense mutation as a cause of mild lissencephaly with basal ganglia calcification. Brain & development 2018 8 41 (1): 29-35. Shi Chang-He, Zhang Shuo, Yang Zhi-Hua, Liu Yu-Tao, Li Yu-Sheng, Li Zhuo, Hu Zheng-Wei, Xu Yu-Mi |
| Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations. Seizure 2020 6 80 145-152. Accogli Andrea, Severino Mariasavina, Riva Antonella, Madia Francesca, Balagura Ganna, Iacomino Michele, Carlini Barbara, Baldassari Simona, Giacomini Thea, Croci Carolina, Pisciotta Livia, Messana Tullio, Boni Antonella, Russo Angelo, Bilo Leonilda, Tonziello Rosa, Coppola Antonietta, Filla Alessandro, Mecarelli Oriano, Casalone Rosario, Pisani Francesco, Falsaperla Raffaele, Marino Silvia, Parisi Pasquale, Ferretti Alessandro, Elia Maurizio, Luchetti Anna, Milani Donatella, Vanadia Francesca, Silvestri Laura, Rebessi Erika, Parente Eliana, Vatti Giampaolo, Mancardi Maria Margherita, Nobili Lino, Capra Valeria, Salpietro Vincenzo, Striano Pasquale, Zara Federi |
| [Prenatal diagnosis and genetic analysis of a fetus with Miller-Dieker syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 1 38 (1): 71-73. Duan Fuhua, Kong Xiangdo |
| Exploring unsolved cases of lissencephaly spectrum: integrating exome and genome sequencing for higher diagnostic yield. Journal of human genetics 2024 8 . Shogo Furukawa, Mitsuhiro Kato, Akihiko Ishiyama, Tomohiro Kumada, Takeshi Yoshida, Eri Takeshita, Pin Fee Chong, Hideo Yamanouchi, Yuko Kotake, Takayoshi Kyoda, Toshihiro Nomura, Yohane Miyata, Mitsuko Nakashima, Hirotomo Sait |
- Page last reviewed:Feb 1, 2024
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