Human Genome Epidemiology Literature Finder
Records 1 - 11 (of 11 Records) |
Query Trace: PAFAH1B1[original query] |
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Evidence of statistical epistasis between DISC1, CIT and NDEL1 impacting risk for schizophrenia: biological validation with functional neuroimaging. Human genetics 2010 Apr 127 (4): 441-52. Nicodemus Kristin K, Callicott Joseph H, Higier Rachel G, Luna Augustin, Nixon Devon C, Lipska Barbara K, Vakkalanka Radhakrishna, Giegling Ina, Rujescu Dan, St Clair David, Muglia Pierandrea, Shugart Yin Yao, Weinberger Daniel |
The clinical significance of small copy number variants in neurodevelopmental disorders. Journal of medical genetics 2014 Oct 51 (10): 677-88. Asadollahi Reza, Oneda Beatrice, Joset Pascal, Azzarello-Burri Silvia, Bartholdi Deborah, Steindl Katharina, Vincent Marie, Cobilanschi Joana, Sticht Heinrich, Baldinger Rosa, Reissmann Regina, Sudholt Irene, Thiel Christian T, Ekici Arif B, Reis André, Bijlsma Emilia K, Andrieux Joris, Dieux Anne, FitzPatrick David, Ritter Susanne, Baumer Alessandra, Latal Beatrice, Plecko Barbara, Jenni Oskar G, Rauch Ani |
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 |
Copy Number Variations in DISC1 and DISC1-Interacting Partners in Major Mental Illness. Molecular neuropsychiatry 2015 Oct 1 (3): 175-190. Johnstone Mandy, Maclean Alan, Heyrman Lien, Lenaerts An-Sofie, Nordin Annelie, Nilsson Lars-Göran, De Rijk Peter, Goossens Dirk, Adolfsson Rolf, St Clair David M, Hall Jeremy, Lawrie Stephen M, McIntosh Andrew M, Del-Favero Jurgen, Blackwood Douglas H R, Pickard Benjamin |
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 |
Clinical Implementation of Targeted Gene Sequencing for Malformation of Cortical Development. Pediatric neurology 2019 9 103 27-34. Lee Sangbo, Kim Se Hee, Kim Borahm, Lee Seung-Tae, Choi Jong Rak, Kim Heung Dong, Lee Joon Soo, Kang Hoon-Ch |
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 |
Clinical findings and genetic analysis of patients with copy number variants involving 17p13.3 using a single nucleotide polymorphism array: a single-center experience. BMC medical genomics 2022 12 15 (1): 268. Liang Bin, Yu Donghong, Zhao Wantong, Wang Yan, Wu Xiaoqing, Chen Lingji, Lin Na, Huang Hailong, Xu Liang |
Detecting Low-Variant Allele Frequency Mosaic Pathogenic Variants of NF1, TSC2, and AKT3 Genes from Blood in Patients with Neurodevelopmental Disorders. The Journal of molecular diagnostics : JMD 2023 4 . Se Hee Kim, Soon Sung Kwon, Mi Ri Park, Hyeon Ah Lee, Ji Hun Kim, JiHoon Cha, Sangwoo Kim, Seung Tae Baek, Se Hoon Kim, Joon Soo Lee, Heung Dong Kim, Jong Rak Choi, Seung-Tae Lee, Hoon-Chul Ka |
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