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 *

847 related articles for article (PubMed ID: 24860126)

  • 21. 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]  

  • 22. Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations.
    Ross ME; Swanson K; Dobyns WB
    Neuropediatrics; 2001 Oct; 32(5):256-63. PubMed ID: 11748497
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Microcephaly associated with abnormal gyral pattern.
    Sztriha L; Dawodu A; Gururaj A; Johansen JG
    Neuropediatrics; 2004 Dec; 35(6):346-52. PubMed ID: 15627942
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 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; 40(9):819-823. PubMed ID: 29907476
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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; 21(4):381-5. PubMed ID: 22948023
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Beta tubulin isoforms are not interchangeable for rescuing impaired radial migration due to Tubb3 knockdown.
    Saillour Y; Broix L; Bruel-Jungerman E; Lebrun N; Muraca G; Rucci J; Poirier K; Belvindrah R; Francis F; Chelly J
    Hum Mol Genet; 2014 Mar; 23(6):1516-26. PubMed ID: 24179174
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 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]  

  • 29. 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]  

  • 30. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Tubulinopathies.
    Gonçalves FG; Freddi TAL; Taranath A; Lakshmanan R; Goetti R; Feltrin FS; Mankad K; Teixeira SR; Hanagandi PB; Arrigoni F
    Top Magn Reson Imaging; 2018 Dec; 27(6):395-408. PubMed ID: 30516692
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1.
    Brock S; Stouffs K; Scalais E; D'Hooghe M; Keymolen K; Guerrini R; Dobyns WB; Di Donato N; Jansen AC
    Eur J Hum Genet; 2018 Aug; 26(8):1132-1142. PubMed ID: 29706637
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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]  

  • 34. 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]  

  • 35. [Epileptogenic brain malformations: radiological and clinical presentation and indications for genetic testing].
    Bahi-Buisson N; Boddaert N; Saillour Y; Souville I; Poirier K; Léger PL; Castelnau L; Plouin P; Carion N; Beldjord C; Chelly J
    Rev Neurol (Paris); 2008 Dec; 164(12):995-1009. PubMed ID: 18808783
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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; 56(4):354-60. PubMed ID: 24392928
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Genetic malformations of the cerebral cortex and epilepsy.
    Guerrini R
    Epilepsia; 2005; 46 Suppl 1():32-7. PubMed ID: 15816977
    [TBL] [Abstract][Full Text] [Related]  

  • 38. GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex.
    Bahi-Buisson N; Poirier K; Boddaert N; Fallet-Bianco C; Specchio N; Bertini E; Caglayan O; Lascelles K; Elie C; Rambaud J; Baulac M; An I; Dias P; des Portes V; Moutard ML; Soufflet C; El Maleh M; Beldjord C; Villard L; Chelly J
    Brain; 2010 Nov; 133(11):3194-209. PubMed ID: 20929962
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
    Sajan SA; Fernandez L; Nieh SE; Rider E; Bukshpun P; Wakahiro M; Christian SL; Rivière JB; Sullivan CT; Sudi J; Herriges MJ; Paciorkowski AR; Barkovich AJ; Glessner JT; Millen KJ; Hakonarson H; Dobyns WB; Sherr EH
    PLoS Genet; 2013; 9(10):e1003823. PubMed ID: 24098143
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Diffuse malformations of cortical development.
    Bahi-Buisson N; Guerrini R
    Handb Clin Neurol; 2013; 111():653-65. PubMed ID: 23622213
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 43.