200 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]
