These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

181 related articles for article (PubMed ID: 23528852)

  • 1. A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease.
    Hikita N; Hattori H; Kato M; Sakuma S; Morotomi Y; Ishida H; Seto T; Tanaka K; Shimono T; Shintaku H; Tokuhara D
    Brain Dev; 2014 Feb; 36(2):159-62. PubMed ID: 23528852
    [TBL] [Abstract][Full Text] [Related]  

  • 2. TUBA1A mutation-associated lissencephaly: case report and review of the literature.
    Sohal AP; Montgomery T; Mitra D; Ramesh V
    Pediatr Neurol; 2012 Feb; 46(2):127-31. PubMed ID: 22264709
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly.
    Morris-Rosendahl DJ; Najm J; Lachmeijer AM; Sztriha L; Martins M; Kuechler A; Haug V; Zeschnigk C; Martin P; Santos M; Vasconcelos C; Omran H; Kraus U; Van der Knaap MS; Schuierer G; Kutsche K; Uyanik G
    Clin Genet; 2008 Nov; 74(5):425-33. PubMed ID: 18954413
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations.
    Bahi-Buisson N; Poirier K; Boddaert N; Saillour Y; Castelnau L; Philip N; Buyse G; Villard L; Joriot S; Marret S; Bourgeois M; Van Esch H; Lagae L; Amiel J; Hertz-Pannier L; Roubertie A; Rivier F; Pinard JM; Beldjord C; Chelly J
    J Med Genet; 2008 Oct; 45(10):647-53. PubMed ID: 18728072
    [TBL] [Abstract][Full Text] [Related]  

  • 5. TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.
    Kumar RA; Pilz DT; Babatz TD; Cushion TD; Harvey K; Topf M; Yates L; Robb S; Uyanik G; Mancini GM; Rees MI; Harvey RJ; Dobyns WB
    Hum Mol Genet; 2010 Jul; 19(14):2817-27. PubMed ID: 20466733
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A.
    Fallet-Bianco C; Loeuillet L; Poirier K; Loget P; Chapon F; Pasquier L; Saillour Y; Beldjord C; Chelly J; Francis F
    Brain; 2008 Sep; 131(Pt 9):2304-20. PubMed ID: 18669490
    [TBL] [Abstract][Full Text] [Related]  

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

  • 8. 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; ; Beldjord C; Chelly J
    Brain; 2014 Jun; 137(Pt 6):1676-700. PubMed ID: 24860126
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Epileptogenic Brain Malformations and Mutations in Tubulin Genes: A Case Report and Review of the Literature.
    Mencarelli A; Prontera P; Stangoni G; Mencaroni E; Principi N; Esposito S
    Int J Mol Sci; 2017 Oct; 18(11):. PubMed ID: 29109381
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Lissencephaly and band heterotopia: LIS1, TUBA1A, and DCX mutations in Hungary.
    Mokánszki A; Körhegyi I; Szabó N; Bereg E; Gergev G; Balogh E; Bessenyei B; Sümegi A; Morris-Rosendahl DJ; Sztriha L; Oláh E
    J Child Neurol; 2012 Dec; 27(12):1534-40. PubMed ID: 22408144
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).
    Poirier K; Keays DA; Francis F; Saillour Y; Bahi N; Manouvrier S; Fallet-Bianco C; Pasquier L; Toutain A; Tuy FP; Bienvenu T; Joriot S; Odent S; Ville D; Desguerre I; Goldenberg A; Moutard ML; Fryns JP; van Esch H; Harvey RJ; Siebold C; Flint J; Beldjord C; Chelly J
    Hum Mutat; 2007 Nov; 28(11):1055-64. PubMed ID: 17584854
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 17(4):361-5. PubMed ID: 23317684
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Human lissencephaly with cerebellar hypoplasia due to mutations in TUBA1A: expansion of the foetal neuropathological phenotype.
    Lecourtois M; Poirier K; Friocourt G; Jaglin X; Goldenberg A; Saugier-Veber P; Chelly J; Laquerrière A
    Acta Neuropathol; 2010 Jun; 119(6):779-89. PubMed ID: 20376468
    [TBL] [Abstract][Full Text] [Related]  

  • 14.
    Hoff KJ; Aiken JE; Gutierrez MA; Franco SJ; Moore JK
    Elife; 2022 May; 11():. PubMed ID: 35511030
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Microcephaly, lissencephaly, Hirschsprung disease and tetralogy of Fallot: a new syndrome?
    Tanteles GA; Kurup B; Rauch A; Splitt MP
    Clin Dysmorphol; 2006 Apr; 15(2):107-10. PubMed ID: 16531738
    [TBL] [Abstract][Full Text] [Related]  

  • 16. TUBA1A mutations identified in lissencephaly patients dominantly disrupt neuronal migration and impair dynein activity.
    Aiken J; Moore JK; Bates EA
    Hum Mol Genet; 2019 Apr; 28(8):1227-1243. PubMed ID: 30517687
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.
    Hebebrand M; Hüffmeier U; Trollmann R; Hehr U; Uebe S; Ekici AB; Kraus C; Krumbiegel M; Reis A; Thiel CT; Popp B
    Orphanet J Rare Dis; 2019 Feb; 14(1):38. PubMed ID: 30744660
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Lissencephaly caused by a
    Ren S; Kong Y; Liu R; Li Q; Shen X; Kong QX
    Front Pediatr; 2024; 12():1367305. PubMed ID: 38813542
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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; 53(5):442-4. PubMed ID: 26294046
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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; 48(5):411-4. PubMed ID: 23583063
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.