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143 related items for PubMed ID: 30585108

  • 1. 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; 38(1):63-71. PubMed ID: 30585108
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  • 2. The wide spectrum of tubulinopathies: what are the key features for the diagnosis?
    Bahi-Buisson N, Poirier K, Fourniol F, Saillour Y, Valence S, Lebrun N, Hully M, Bianco CF, Boddaert N, Elie C, Lascelles K, Souville I, LIS-Tubulinopathies Consortium, Beldjord C, Chelly J.
    Brain; 2014 Jun; 137(Pt 6):1676-700. PubMed ID: 24860126
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  • 3. Polymicrogyria with dysmorphic basal ganglia? Think tubulin!
    Amrom D, Tanyalçin I, Verhelst H, Deconinck N, Brouhard GJ, Décarie JC, Vanderhasselt T, Das S, Hamdan FF, Lissens W, Michaud JL, Jansen AC.
    Clin Genet; 2014 Feb; 85(2):178-83. PubMed ID: 23495813
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  • 4. 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; 136(Pt 2):536-48. PubMed ID: 23361065
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  • 5. Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly.
    Fallet-Bianco C, Laquerrière A, Poirier K, Razavi F, Guimiot F, Dias P, Loeuillet L, Lascelles K, Beldjord C, Carion N, Toussaint A, Revencu N, Addor MC, Lhermitte B, Gonzales M, Martinovich J, Bessieres B, Marcy-Bonnière M, Jossic F, Marcorelles P, Loget P, Chelly J, Bahi-Buisson N.
    Acta Neuropathol Commun; 2014 Jul 25; 2():69. PubMed ID: 25059107
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  • 6. Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.
    Oegema R, Cushion TD, Phelps IG, Chung SK, Dempsey JC, Collins S, Mullins JG, Dudding T, Gill H, Green AJ, Dobyns WB, Ishak GE, Rees MI, Doherty D.
    Hum Mol Genet; 2015 Sep 15; 24(18):5313-25. PubMed ID: 26130693
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  • 11. De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy.
    Cushion TD, Paciorkowski AR, Pilz DT, Mullins JG, Seltzer LE, Marion RW, Tuttle E, Ghoneim D, Christian SL, Chung SK, Rees MI, Dobyns WB.
    Am J Hum Genet; 2014 Apr 03; 94(4):634-41. PubMed ID: 24702957
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  • 12. Description of a novel TUBA1A mutation in Arg-390 associated with asymmetrical polymicrogyria and mid-hindbrain dysgenesis.
    Zanni G, Colafati GS, Barresi S, Randisi F, Talamanca LF, Genovese E, Bellacchio E, Bartuli A, Bernardi B, Bertini E.
    Eur J Paediatr Neurol; 2013 Jul 03; 17(4):361-5. PubMed ID: 23317684
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  • 13. Broadening the phenotypic spectrum of TUBA1A tubulinopathy to syndromic arthrogryposis multiplex congenita.
    Weber M, Jaber D, Encha-Razavi F, Julien E, Grevoul-Fesquet J, Steffann J, Melki J, Martinovic J.
    Am J Med Genet A; 2022 Aug 03; 188(8):2331-2338. PubMed ID: 35686685
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  • 14. 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 03; 41(1):155-165. PubMed ID: 32281916
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  • 15. 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 03; 35():35-39. PubMed ID: 34592644
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  • 16. 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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  • 18. Tubulin genes and malformations of cortical development.
    Romaniello R, Arrigoni F, Fry AE, Bassi MT, Rees MI, Borgatti R, Pilz DT, Cushion TD.
    Eur J Med Genet; 2018 Dec 15; 61(12):744-754. PubMed ID: 30016746
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