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Journal Abstract Search

201 related items for PubMed ID: 26732629

  • 1. 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; 59(4):249-56. PubMed ID: 26732629
    [Abstract] [Full Text] [Related]

  • 2. 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; 188(8):2331-2338. PubMed ID: 35686685
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. 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 25; 137(Pt 6):1676-700. PubMed ID: 24860126
    [Abstract] [Full Text] [Related]

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

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

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

  • 8. Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability.
    Breuss MW, Nguyen T, Srivatsan A, Leca I, Tian G, Fritz T, Hansen AH, Musaev D, McEvoy-Venneri J, James KN, Rosti RO, Scott E, Tan U, Kolodner RD, Cowan NJ, Keays DA, Gleeson JG.
    Hum Mol Genet; 2017 Jan 15; 26(2):258-269. PubMed ID: 28013290
    [Abstract] [Full Text] [Related]

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

  • 10. Pontocerebellar hypoplasia with rhombencephalosynapsis and microlissencephaly expands the spectrum of PCH type 1B.
    Saugier-Veber P, Marguet F, Vezain M, Bucourt M, Letard P, Delahaye A, Pipiras E, Frébourg T, Gonzalez B, Laquerrière A.
    Eur J Med Genet; 2020 Apr 15; 63(4):103814. PubMed ID: 31770597
    [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 15; 41(6):746-52. PubMed ID: 19465910
    [Abstract] [Full Text] [Related]

  • 12. Two different prenatal imaging cerebral patterns of tubulinopathy.
    Cabet S, Karl K, Garel C, Delius M, Hartung J, Lesca G, Chaoui R, Guibaud L.
    Ultrasound Obstet Gynecol; 2021 Mar 15; 57(3):493-497. PubMed ID: 32149430
    [Abstract] [Full Text] [Related]

  • 13. MuSK: a new target for lethal fetal akinesia deformation sequence (FADS).
    Wilbe M, Ekvall S, Eurenius K, Ericson K, Casar-Borota O, Klar J, Dahl N, Ameur A, Annerén G, Bondeson ML.
    J Med Genet; 2015 Mar 15; 52(3):195-202. PubMed ID: 25612909
    [Abstract] [Full Text] [Related]

  • 14. 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 15; 32(2):148-150. PubMed ID: 30704335
    [Abstract] [Full Text] [Related]

  • 15. Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosis.
    Vandervore LV, Schot R, Hoogeboom AJM, Lincke C, de Coo IF, Lequin MH, Dremmen M, van Unen LMA, Saris JJ, Jansen AC, van Slegtenhorst MA, Wilke M, Mancini GMS.
    Eur J Med Genet; 2018 Dec 15; 61(12):783-789. PubMed ID: 30391508
    [Abstract] [Full Text] [Related]

  • 16. TUBA1A Mutation Associated With Eye Abnormalities in Addition to Brain Malformation.
    Myers KA, Bello-Espinosa LE, Kherani A, Wei XC, Innes AM.
    Pediatr Neurol; 2015 Nov 15; 53(5):442-4. PubMed ID: 26294046
    [Abstract] [Full Text] [Related]

  • 17. Heterogeneity in fetal akinesia deformation sequence (FADS): autopsy confirmation in three 20-21-week fetuses.
    Yfantis H, Nonaka D, Castellani R, Harman C, Sun CC.
    Prenat Diagn; 2002 Jan 15; 22(1):42-7. PubMed ID: 11810649
    [Abstract] [Full Text] [Related]

  • 18. 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
    [Abstract] [Full Text] [Related]

  • 19. A case of tubulinopathy presenting with porencephaly caused by a novel missense mutation in the TUBA1A gene.
    Sato T, Kato M, Moriyama K, Haraguchi K, Saitsu H, Matsumoto N, Moriuchi H.
    Brain Dev; 2018 Oct 15; 40(9):819-823. PubMed ID: 29907476
    [Abstract] [Full Text] [Related]

  • 20. Massive parallel sequencing identifies RAPSN and PDHA1 mutations causing fetal akinesia deformation sequence.
    Winters L, Van Hoof E, De Catte L, Van Den Bogaert K, de Ravel T, De Waele L, Corveleyn A, Breckpot J.
    Eur J Paediatr Neurol; 2017 Sep 15; 21(5):745-753. PubMed ID: 28495245
    [Abstract] [Full Text] [Related]

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