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Journal Abstract Search

143 related items for PubMed ID: 30585108

  • 21.
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  • 23. 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; 12(1):e2358. PubMed ID: 38284444
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  • 26. 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
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  • 27. TUBA1A tubulinopathy mutants disrupt neuron morphogenesis and override XMAP215/Stu2 regulation of microtubule dynamics.
    Hoff KJ, Aiken JE, Gutierrez MA, Franco SJ, Moore JK.
    Elife; 2022 May 05; 11():. PubMed ID: 35511030
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  • 28. 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 05; 53(5):442-4. PubMed ID: 26294046
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  • 29. Lissencephaly with marked ventricular dilation, agenesis of corpus callosum, and cerebellar hypoplasia caused by TUBA1A mutation.
    Okumura A, Hayashi M, Tsurui H, Yamakawa Y, Abe S, Kudo T, Suzuki R, Shimizu T, Shimojima K, Yamamoto T.
    Brain Dev; 2013 Mar 05; 35(3):274-9. PubMed ID: 22633752
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  • 30. Identification of DCX gene mutation in lissencephaly spectrum with subcortical band heterotopia using whole exome sequencing.
    Jang MA, Woo HI, Kim JW, Lee J, Ki CS.
    Pediatr Neurol; 2013 May 05; 48(5):411-4. PubMed ID: 23583063
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  • 32. Further Insights into Developmental Brain Malformations and Leukoencephalopathy Associated with 6p25.3 Deletion.
    Eid M, Eid O, Hegazy I, Girgis M, Mohamed A, Abdel-Salam GMH.
    Neuropediatrics; 2020 Feb 05; 51(1):76-82. PubMed ID: 31634935
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  • 33. Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria.
    Poirier K, Saillour Y, Fourniol F, Francis F, Souville I, Valence S, Desguerre I, Marie Lepage J, Boddaert N, Line Jacquemont M, Beldjord C, Chelly J, Bahi-Buisson N.
    Eur J Hum Genet; 2013 Apr 05; 21(4):381-5. PubMed ID: 22948023
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  • 35. Gamma-Tubulin 1 (TUBG1) Mutation-Associated Lissencephaly and Microcephaly in an Indian Child: A Rare Case.
    Srivastava P, Swaroop S, Diwakar K, Jaiswal A, Singh M.
    Cureus; 2024 Jun 05; 16(6):e62749. PubMed ID: 38912084
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  • 36. Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.
    Di Donato N, Timms AE, Aldinger KA, Mirzaa GM, Bennett JT, Collins S, Olds C, Mei D, Chiari S, Carvill G, Myers CT, Rivière JB, Zaki MS, University of Washington Center for Mendelian Genomics, Gleeson JG, Rump A, Conti V, Parrini E, Ross ME, Ledbetter DH, Guerrini R, Dobyns WB.
    Genet Med; 2018 Nov 05; 20(11):1354-1364. PubMed ID: 29671837
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  • 37. Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders.
    Mitani T, Punetha J, Akalin I, Pehlivan D, Dawidziuk M, Coban Akdemir Z, Yilmaz S, Aslan E, Hunter JV, Hijazi H, Grochowski CM, Jhangiani SN, Karaca E, Fatih JM, Iwanowski P, Gambin T, Wlasienko P, Goszczanska-Ciuchta A, Bekiesinska-Figatowska M, Hosseini M, Arzhangi S, Najmabadi H, Rosenfeld JA, Du H, Marafi D, Blaser S, Teitelbaum R, Silver R, Baylor-Hopkins Center for Mendelian Genomics, Posey JE, Ropers HH, Gibbs RA, Wiszniewski W, Lupski JR, Chitayat D, Kahrizi K, Gawlinski P.
    Am J Hum Genet; 2019 Nov 07; 105(5):1005-1015. PubMed ID: 31630790
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  • 38. An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation.
    Patel RM, Liu D, Gonzaga-Jauregui C, Jhangiani S, Lu JT, Sutton VR, Fernbach SD, Azamian M, White L, Edmond JC, Paysse EA, Belmont JW, Muzny D, Lupski JR, Gibbs RA, Lewis RA, Lee BH, Lalani SR, Campeau PM.
    Cold Spring Harb Mol Case Stud; 2017 Mar 07; 3(2):a000984. PubMed ID: 28299356
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  • 40. De novo mutations of TUBB2A cause infantile-onset epilepsy and developmental delay.
    Cai S, Li J, Wu Y, Jiang Y.
    J Hum Genet; 2020 Jul 07; 65(7):601-608. PubMed ID: 32203252
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