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 *

293 related articles for article (PubMed ID: 24702957)

  • 1. De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy.
    Cushion TD; Paciorkowski AR; Pilz DT; Mullins JG; Seltzer LE; Marion RW; Tuttle E; Ghoneim D; Christian SL; Chung SK; Rees MI; Dobyns WB
    Am J Hum Genet; 2014 Apr; 94(4):634-41. PubMed ID: 24702957
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 61(12):744-754. PubMed ID: 30016746
    [TBL] [Abstract][Full Text] [Related]  

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

  • 4. 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; 65(7):601-608. PubMed ID: 32203252
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.
    Oegema R; Cushion TD; Phelps IG; Chung SK; Dempsey JC; Collins S; Mullins JG; Dudding T; Gill H; Green AJ; Dobyns WB; Ishak GE; Rees MI; Doherty D
    Hum Mol Genet; 2015 Sep; 24(18):5313-25. PubMed ID: 26130693
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 137():87-95. PubMed ID: 35915025
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutations in α- and β-tubulin encoding genes: implications in brain malformations.
    Romaniello R; Arrigoni F; Bassi MT; Borgatti R
    Brain Dev; 2015 Mar; 37(3):273-80. PubMed ID: 25008804
    [TBL] [Abstract][Full Text] [Related]  

  • 9. De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria.
    Rodan LH; El Achkar CM; Berry GT; Poduri A; Prabhu SP; Yang E; Anselm I
    J Child Neurol; 2017 Jan; 32(1):127-131. PubMed ID: 27770045
    [TBL] [Abstract][Full Text] [Related]  

  • 10.
    Hoff KJ; Aiken JE; Gutierrez MA; Franco SJ; Moore JK
    Elife; 2022 May; 11():. PubMed ID: 35511030
    [TBL] [Abstract][Full Text] [Related]  

  • 11. De Novo Mutated TUBB2B Associated Pachygyria Diagnosed by Medical Exome Sequencing and Long-Range PCR.
    Wang H; Li S; Li S; Jiang N; Guo J; Zhang W; Zhong M; Xie J
    Fetal Pediatr Pathol; 2019 Feb; 38(1):63-71. PubMed ID: 30585108
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Insights on the Role of α- and β-Tubulin Isotypes in Early Brain Development.
    Tantry MSA; Santhakumar K
    Mol Neurobiol; 2023 Jul; 60(7):3803-3823. PubMed ID: 36943622
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum.
    Simons C; Wolf NI; McNeil N; Caldovic L; Devaney JM; Takanohashi A; Crawford J; Ru K; Grimmond SM; Miller D; Tonduti D; Schmidt JL; Chudnow RS; van Coster R; Lagae L; Kisler J; Sperner J; van der Knaap MS; Schiffmann R; Taft RJ; Vanderver A
    Am J Hum Genet; 2013 May; 92(5):767-73. PubMed ID: 23582646
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Defining the phenotypical spectrum associated with variants in
    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
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Kinetically Stabilizing Mutations in Beta Tubulins Create Isotype-Specific Brain Malformations.
    Park K; Hoff KJ; Wethekam L; Stence N; Saenz M; Moore JK
    Front Cell Dev Biol; 2021; 9():765992. PubMed ID: 34869359
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. 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
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.