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 *

173 related articles for article (PubMed ID: 33921132)

  • 1.
    Jin S; Park SE; Won D; Lee ST; Han SH; Han J
    Genes (Basel); 2021 Apr; 12(4):. PubMed ID: 33921132
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 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. 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]  

  • 6. Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects.
    Poirier K; Saillour Y; Bahi-Buisson N; Jaglin XH; Fallet-Bianco C; Nabbout R; Castelnau-Ptakhine L; Roubertie A; Attie-Bitach T; Desguerre I; Genevieve D; Barnerias C; Keren B; Lebrun N; Boddaert N; Encha-Razavi F; Chelly J
    Hum Mol Genet; 2010 Nov; 19(22):4462-73. PubMed ID: 20829227
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Evidence of an asymmetrical endophenotype in congenital fibrosis of extraocular muscles type 3 resulting from TUBB3 mutations.
    Demer JL; Clark RA; Tischfield MA; Engle EC
    Invest Ophthalmol Vis Sci; 2010 Sep; 51(9):4600-11. PubMed ID: 20393110
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development.
    Jurgens JA; Barry BJ; Lemire G; Chan WM; Whitman MC; Shaaban S; Robson CD; MacKinnon S; England EM; McMillan HJ; Kelly C; Pratt BM; ; O'Donnell-Luria A; MacArthur DG; Boycott KM; Hunter DG; Engle EC
    Eur J Hum Genet; 2021 May; 29(5):816-826. PubMed ID: 33649541
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Infantile esotropia in a family with
    Jang Y; Kwak E; An JY; Jung JH
    Ophthalmic Genet; 2022 Oct; 43(5):716-719. PubMed ID: 35765833
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. Clinical and genetic characteristics of Chinese patients with congenital fibrosis of the extraocular muscles.
    Wu J; Huang L; Zhou Y; Xie Y; Mo T; Li N
    Orphanet J Rare Dis; 2024 Aug; 19(1):300. PubMed ID: 39148141
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3.
    Chew S; Balasubramanian R; Chan WM; Kang PB; Andrews C; Webb BD; MacKinnon SE; Oystreck DT; Rankin J; Crawford TO; Geraghty M; Pomeroy SL; Crowley WF; Jabs EW; Hunter DG; Grant PE; Engle EC
    Brain; 2013 Feb; 136(Pt 2):522-35. PubMed ID: 23378218
    [TBL] [Abstract][Full Text] [Related]  

  • 15. An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a
    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; 3(2):a000984. PubMed ID: 28299356
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. Expanding the phenotypic spectrum and variability of endocrine abnormalities associated with TUBB3 E410K syndrome.
    Balasubramanian R; Chew S; MacKinnon SE; Kang PB; Andrews C; Chan WM; Engle EC
    J Clin Endocrinol Metab; 2015 Mar; 100(3):E473-7. PubMed ID: 25559402
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Two different prenatal imaging cerebral patterns of tubulinopathy.
    Cabet S; Karl K; Garel C; Delius M; Hartung J; Lesca G; Chaoui R; Guibaud L
    Ultrasound Obstet Gynecol; 2021 Mar; 57(3):493-497. PubMed ID: 32149430
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Congenital monocular elevation deficiency associated with a novel
    Thomas MG; Maconachie GDE; Constantinescu CS; Chan WM; Barry B; Hisaund M; Sheth V; Kuht HJ; Dineen RA; Harieaswar S; Engle EC; Gottlob I
    Br J Ophthalmol; 2020 Apr; 104(4):547-550. PubMed ID: 31302631
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.