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Journal Abstract Search

141 related items for PubMed ID: 32281916

  • 1. 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; 41(1):155-165. PubMed ID: 32281916
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. Maternal mosaicism underlies the inheritance of a rare germline AKT3 variant which is responsible for megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome in two Roma half-siblings.
    Szalai R, Melegh BI, Till A, Ripszam R, Csabi G, Acharya A, Schrauwen I, Leal SM, Komoly S, Kosztolanyi G, Hadzsiev K.
    Exp Mol Pathol; 2020 Aug; 115():104471. PubMed ID: 32446860
    [Abstract] [Full Text] [Related]

  • 4. Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature.
    Handoko M, Emrick LT, Rosenfeld JA, Wang X, Tran AA, Turner A, Belmont JW, Undiagnosed Diseases Network, Lee BH, Bacino CA, Chao HT.
    Am J Med Genet A; 2019 Mar; 179(3):475-479. PubMed ID: 30569621
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. 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
    [Abstract] [Full Text] [Related]

  • 9. 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; 20(9):995-8. PubMed ID: 22333901
    [Abstract] [Full Text] [Related]

  • 10. [Analysis of TUBB2B gene variant in a fetus with complex cortical dysplasia with other brain malformations-7].
    Yan L, Lu Z, Liu Y, Han C, Ying H, Bao Y, Xue J, Li H.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Mar 10; 39(3):301-304. PubMed ID: 35315040
    [Abstract] [Full Text] [Related]

  • 11. Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria.
    Jaglin XH, Poirier K, Saillour Y, Buhler E, Tian G, Bahi-Buisson N, Fallet-Bianco C, Phan-Dinh-Tuy F, Kong XP, Bomont P, Castelnau-Ptakhine L, Odent S, Loget P, Kossorotoff M, Snoeck I, Plessis G, Parent P, Beldjord C, Cardoso C, Represa A, Flint J, Keays DA, Cowan NJ, Chelly J.
    Nat Genet; 2009 Jun 10; 41(6):746-52. PubMed ID: 19465910
    [Abstract] [Full Text] [Related]

  • 12. 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 10; 61(12):744-754. PubMed ID: 30016746
    [Abstract] [Full Text] [Related]

  • 13. β-Tubulinopathy caused by a mutation of the TUBB2B gene: magnetic resonance imaging findings of the brain.
    Jimenez J, Herrera DA, Vargas SA, Montoya J, Castillo M.
    Neuroradiol J; 2019 Apr 10; 32(2):148-150. PubMed ID: 30704335
    [Abstract] [Full Text] [Related]

  • 14. 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
    [Abstract] [Full Text] [Related]

  • 15. 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 25; 54(8):765-9. PubMed ID: 22591407
    [Abstract] [Full Text] [Related]

  • 16. 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
    [Abstract] [Full Text] [Related]

  • 17. [Autism spectrum disorder/development delay in siblings with SCN2A mutations caused by germline mosaicism].
    Zhang P, Gao Z, Jia J, Chen Q.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Nov 10; 38(11):1097-1100. PubMed ID: 34729751
    [Abstract] [Full Text] [Related]

  • 18. 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 10; 188(8):2331-2338. PubMed ID: 35686685
    [Abstract] [Full Text] [Related]

  • 19. GPR56 homozygous nonsense mutation p.R271* associated with phenotypic variability in bilateral frontoparietal polymicrogyria.
    Öncü-Öner T, Ünalp A, Porsuk-Doru İ, Ağılkaya S, Güleryüz H, Saraç A, Ergüner B, Yüksel B, Hız-Kurul S, Cingöz S.
    Turk J Pediatr; 2018 Aug 10; 60(3):229-237. PubMed ID: 30511534
    [Abstract] [Full Text] [Related]

  • 20. 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 10; 59(4):249-56. PubMed ID: 26732629
    [Abstract] [Full Text] [Related]

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