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Journal Abstract Search

203 related items for PubMed ID: 32169460

  • 1. Autosomal dominant TUBB3-related syndrome: Fetal, radiologic, clinical and morphological features.
    Blumkin L, Leibovitz Z, Krajden-Haratz K, Arad A, Yosovich K, Gindes L, Zerem A, Ben-Sira L, Lev D, Nissenkorn A, Kidron D, Dobyns WB, Malinger G, Bahi-Buisson N, Leventer RJ, Lerman-Sagie T.
    Eur J Paediatr Neurol; 2020 May; 26():46-60. PubMed ID: 32169460
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  • 3. 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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  • 4. Spectrum of brain malformations in fetuses with mild tubulinopathy.
    Hagege R, Krajden Haratz K, Malinger G, Ben-Sira L, Leibovitz Z, Heron D, Burglen L, Birnbaum R, Valence S, Keren B, Blumkin L, Jouannic JM, Lerman-Sagie T, Garel C.
    Ultrasound Obstet Gynecol; 2023 Jun; 61(6):740-748. PubMed ID: 36484554
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  • 6. Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.
    Romaniello R, Arrigoni F, Panzeri E, Poretti A, Micalizzi A, Citterio A, Bedeschi MF, Berardinelli A, Cusmai R, D'Arrigo S, Ferraris A, Hackenberg A, Kuechler A, Mancardi M, Nuovo S, Oehl-Jaschkowitz B, Rossi A, Signorini S, Tüttelmann F, Wahl D, Hehr U, Boltshauser E, Bassi MT, Valente EM, Borgatti R.
    Eur Radiol; 2017 Dec; 27(12):5080-5092. PubMed ID: 28677066
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  • 8. Defining the phenotypical spectrum associated with variants in TUBB2A.
    Brock S, Vanderhasselt T, Vermaning S, Keymolen K, Régal L, Romaniello R, Wieczorek D, Storm TM, Schaeferhoff K, Hehr U, Kuechler A, Krägeloh-Mann I, Haack TB, Kasteleijn E, Schot R, Mancini GMS, Webster R, Mohammad S, Leventer RJ, Mirzaa G, Dobyns WB, Bahi-Buisson N, Meuwissen M, Jansen AC, Stouffs K.
    J Med Genet; 2021 Jan; 58(1):33-40. PubMed ID: 32571897
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  • 12. Monozygotic twins with a de novo 0.32 Mb 16q24.3 deletion, including TUBB3 presenting with developmental delay and mild facial dysmorphism but without overt brain malformation.
    Grønborg S, Kjaergaard S, Hove H, Larsen VA, Kirchhoff M.
    Am J Med Genet A; 2015 Nov; 167A(11):2731-6. PubMed ID: 26109418
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  • 14. 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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  • 18. Whole-exome sequencing identifies a de novo TUBA1A mutation in a patient with sporadic malformations of cortical development: a case report.
    Shimojima K, Narita A, Maegaki Y, Saito A, Furukawa T, Yamamoto T.
    BMC Res Notes; 2014 Jul 22; 7():465. PubMed ID: 25053001
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  • 19. A genetic variant in the MAST1 gene is associated with mega-corpus-callosum syndrome with hypoplastic cerebellar vermis, in a fetus.
    Yi S, Tang X, Chen F, Wang L, Chen J, Yang Z, Huang M, Yi S, Huang L, Yang Q, Yang S, Pan P, Qin Z, Luo J.
    Mol Genet Genomic Med; 2024 Jan 22; 12(1):e2358. PubMed ID: 38284444
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  • 20. A novel TUBB3 mutation in a sporadic patient with asymmetric cortical dysplasia.
    Shimojima K, Okamoto N, Yamamoto T.
    Am J Med Genet A; 2016 Apr 22; 170A(4):1076-9. PubMed ID: 26739025
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