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Journal Abstract Search

131 related items for PubMed ID: 34592644

  • 1. A novel family illustrating the mild phenotypic spectrum of TUBB2B variants.
    Dekker J, Diderich KEM, Schot R, Husen SC, Dremmen MHG, Go ATJI, Weerts MJA, van Slegtenhorst MA, Mancini GMS.
    Eur J Paediatr Neurol; 2021 Nov; 35():35-39. PubMed ID: 34592644
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  • 8. A novel mutation in the β-tubulin gene TUBB2B associated with complex malformation of cortical development and deficits in axonal guidance.
    Romaniello R, Tonelli A, Arrigoni F, Baschirotto C, Triulzi F, Bresolin N, Bassi MT, Borgatti R.
    Dev Med Child Neurol; 2012 Aug; 54(8):765-9. PubMed ID: 22591407
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  • 9. An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.
    Cederquist GY, Luchniak A, Tischfield MA, Peeva M, Song Y, Menezes MP, Chan WM, Andrews C, Chew S, Jamieson RV, Gomes L, Flaherty M, Grant PE, Gupta ML, Engle EC.
    Hum Mol Genet; 2012 Dec 15; 21(26):5484-99. PubMed ID: 23001566
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  • 10. De Novo Mutated TUBB2B Associated Pachygyria Diagnosed by Medical Exome Sequencing and Long-Range PCR.
    Wang H, Li S, Li S, Jiang N, Guo J, Zhang W, Zhong M, Xie J.
    Fetal Pediatr Pathol; 2019 Feb 15; 38(1):63-71. PubMed ID: 30585108
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  • 11. Maternal Germline Mosaicism of a de Novo TUBB2B Mutation Leads to Complex Cortical Dysplasia in Two Siblings.
    Çitli Ş, Serdaroglu E.
    Fetal Pediatr Pathol; 2022 Feb 15; 41(1):155-165. PubMed ID: 32281916
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  • 13. Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.
    Cushion TD, Dobyns WB, Mullins JG, Stoodley N, Chung SK, Fry AE, Hehr U, Gunny R, Aylsworth AS, Prabhakar P, Uyanik G, Rankin J, Rees MI, Pilz DT.
    Brain; 2013 Feb 15; 136(Pt 2):536-48. PubMed ID: 23361065
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  • 15. De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy.
    Laquerriere A, Gonzales M, Saillour Y, Cavallin M, Joyē N, Quēlin C, Bidat L, Dommergues M, Plessis G, Encha-Razavi F, Chelly J, Bahi-Buisson N, Poirier K.
    Eur J Med Genet; 2016 Apr 15; 59(4):249-56. PubMed ID: 26732629
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  • 16. Brain malformations and mutations in α- and β-tubulin genes: a review of the literature and description of two new cases.
    Romaniello R, Arrigoni F, Cavallini A, Tenderini E, Baschirotto C, Triulzi F, Bassi MT, Borgatti R.
    Dev Med Child Neurol; 2014 Apr 15; 56(4):354-60. PubMed ID: 24392928
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  • 17. Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations.
    Guerrini R, Mei D, Cordelli DM, Pucatti D, Franzoni E, Parrini E.
    Eur J Hum Genet; 2012 Sep 15; 20(9):995-8. PubMed ID: 22333901
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  • 19. Tubulin mutations in human neurodevelopmental disorders.
    Maillard C, Roux CJ, Charbit-Henrion F, Steffann J, Laquerriere A, Quazza F, Buisson NB.
    Semin Cell Dev Biol; 2023 Mar 15; 137():87-95. PubMed ID: 35915025
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