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 *

196 related articles for article (PubMed ID: 26109418)

  • 1. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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; 170A(4):1076-9. PubMed ID: 26739025
    [TBL] [Abstract][Full Text] [Related]  

  • 4. TUBB3 E410K syndrome: Case report and review of the clinical spectrum of TUBB3 mutations.
    Dentici ML; Maglione V; Agolini E; Catena G; Capolino R; Lanari V; Novelli A; Sinibaldi L; Vecchio D; Gonfiantini MV; Macchiaiolo M; Digilio MC; Dallapiccola B; Bartuli A
    Am J Med Genet A; 2020 Aug; 182(8):1977-1984. PubMed ID: 32573066
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy.
    Whitman MC; Barry BJ; Robson CD; Facio FM; Van Ryzin C; Chan WM; Lehky TJ; Thurm A; Zalewski C; King KA; Brewer C; Almpani K; Lee JS; Delaney A; FitzGibbon EJ; Lee PR; Toro C; Paul SM; Abdul-Rahman OA; Webb BD; Jabs EW; Moller HU; Larsen DA; Antony JH; Troedson C; Ma A; Ragnhild G; Wirgenes KV; Tham E; Kvarnung M; Maarup TJ; MacKinnon S; Hunter DG; Collins FS; Manoli I; Engle EC
    Hum Genet; 2021 Dec; 140(12):1709-1731. PubMed ID: 34652576
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel mutation in the β-tubulin gene TUBB2B associated with complex malformation of cortical development and deficits in axonal guidance.
    Romaniello R; Tonelli A; Arrigoni F; Baschirotto C; Triulzi F; Bresolin N; Bassi MT; Borgatti R
    Dev Med Child Neurol; 2012 Aug; 54(8):765-9. PubMed ID: 22591407
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A Novel De Novo TUBB3 Variant Causing Developmental Delay, Epilepsy and Mild Ophthalmological Symptoms in a Chinese Child.
    Xue J; Song Z; Ma S; Yi Z; Yang C; Li F; Liu K; Zhang Y
    J Mol Neurosci; 2022 Jan; 72(1):37-44. PubMed ID: 34562182
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development.
    Whitman MC; Andrews C; Chan WM; Tischfield MA; Stasheff SF; Brancati F; Ortiz-Gonzalez X; Nuovo S; Garaci F; MacKinnon SE; Hunter DG; Grant PE; Engle EC
    Am J Med Genet A; 2016 Feb; 170A(2):297-305. PubMed ID: 26639658
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Investigation of the most common clinical and imaging findings and the role of tubulin genes in the etiology of malformations of cortical development.
    Aksel Kiliçarslan Ö; Ataman E; Gürsoy S; Gürbüz G; Ünalp A; Gençpinar P; Olgaç Dündar N; Edizer S; Ülgenalp A; Giray Bozkaya Ö
    Turk J Med Sci; 2020 Oct; 50(6):1573-1579. PubMed ID: 32718119
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Disorders of Microtubule Function in Neurons: Imaging Correlates.
    Mutch CA; Poduri A; Sahin M; Barry B; Walsh CA; Barkovich AJ
    AJNR Am J Neuroradiol; 2016 Mar; 37(3):528-35. PubMed ID: 26564436
    [TBL] [Abstract][Full Text] [Related]  

  • 17. De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay.
    Ejaz R; Lionel AC; Blaser S; Walker S; Scherer SW; Babul-Hirji R; Marshall CR; Stavropoulos DJ; Chitayat D
    Am J Med Genet A; 2017 Oct; 173(10):2725-2730. PubMed ID: 28840640
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Identification of two novel de novo TUBB variants in cases with brain malformations: case reports and literature review.
    Watanabe K; Nakashima M; Kumada S; Mashimo H; Enokizono M; Yamada K; Kato M; Saitsu H
    J Hum Genet; 2021 Dec; 66(12):1193-1197. PubMed ID: 34211110
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The recurrent TUBB3 Gly98Ser substitution is the first described to inconsistently result in CFEOM3.
    Smith SC; Olney AH; Beavers A; Spaulding J; Nelson M; Nielsen S; Sanmann JN
    Am J Med Genet A; 2020 Sep; 182(9):2161-2167. PubMed ID: 32705776
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 10.