Human Genome Epidemiology Literature Finder
Records 1 - 10 (of 10 Records) |
Query Trace: DCX[original query] |
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The location of DCX mutations predicts malformation severity in X-linked lissencephaly. Neurogenetics 2008 Oct 9 (4): 277-85. Leger Pierre-Louis, Souville Isabelle, Boddaert Nathalie, Elie Caroline, Pinard Jean Marc, Plouin Perrine, Moutard Marie Laure, des Portes Vincent, Van Esch Hilde, Joriot Sylvie, Renard Jean Louis, Chelly Jamel, Francis Fiona, Beldjord Cherif, Bahi-Buisson Nad |
Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly. Clinical genetics 2008 Nov 74 (5): 425-33. Morris-Rosendahl D J, Najm J, Lachmeijer A M A, Sztriha L, Martins M, Kuechler A, Haug V, Zeschnigk C, Martin P, Santos M, Vasconcelos C, Omran H, Kraus U, Van der Knaap M S, Schuierer G, Kutsche K, Uyanik |
Meta-analysis of the association between DCDC2 polymorphisms and risk of dyslexia. Molecular neurobiology 2013 Feb 47 (1): 435-42. Zhong Rong, Yang Beifang, Tang Hui, Zou Li, Song Ranran, Zhu Ling-Qiang, Miao Xiaopi |
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 |
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Apr . Di Donato Nataliya, Timms Andrew E, Aldinger Kimberly A, Mirzaa Ghayda M, Bennett James T, Collins Sarah, Olds Carissa, Mei Davide, Chiari Sara, Carvill Gemma, Myers Candace T, Rivière Jean-Baptiste, Zaki Maha S, , Gleeson Joseph G, Rump Andreas, Conti Valerio, Parrini Elena, Ross M Elizabeth, Ledbetter David H, Guerrini Renzo, Dobyns William |
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 |
Transcriptional Changes following Cellular Knockdown of the Schizophrenia Risk Gene SETD1A Are Enriched for Common Variant Association with the Disorder. Molecular neuropsychiatry 2019 6 5 (2): 109-114. Cameron Darren, Blake Derek J, Bray Nicholas J, Hill Matthew |
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 |
Developmental Antecedents of Adult Macaque Neurogenesis: Early-Life Adversity, 5-HTTLPR Polymorphisms, and Adolescent Hippocampal Volume. Journal of affective disorders 2021 Feb 286 204-212. Schoenfeld Eric M, Gupta Nishant K, Syed Shariful A, Rozenboym Anna V, Fulton Sasha L, Jackowski Andrea P, Perera Tarique D, Coplan Jeremy |
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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- Page last updated:Apr 29, 2024
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