HuGE Literature Finder
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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 |
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 |
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 |
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