182 related articles for article (PubMed ID: 32573066)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. TUBB3 E410K syndrome with osteoporosis and cough syncope in a patient previously diagnosed with atypical Moebius syndrome.
Nakamura Y; Matsumoto H; Zaha K; Uematsu K; Nonoyama S
Brain Dev; 2018 Mar; 40(3):233-237. PubMed ID: 29289389
[TBL] [Abstract][Full Text] [Related]
8. Altered White Matter Organization in the TUBB3 E410K Syndrome.
Grant PE; Im K; Ahtam B; Laurentys CT; Chan WM; Brainard M; Chew S; Drottar M; Robson CD; Drmic I; Engle EC
Cereb Cortex; 2019 Jul; 29(8):3561-3576. PubMed ID: 30272120
[TBL] [Abstract][Full Text] [Related]
9. 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]
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. 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]
12. 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]
13.
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]
14. 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]
15. 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]
16. 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]
17. 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]
18. KIF21A pathogenic variants cause congenital fibrosis of extraocular muscles type 3.
Al-Haddad C; Boustany RM; Rachid E; Ismail K; Barry B; Chan WM; Engle E
Ophthalmic Genet; 2021 Apr; 42(2):195-199. PubMed ID: 33251926
[No Abstract] [Full Text] [Related]
19. TUBB3 E410K Syndrome With Childhood-Onset Nonalcoholic Steatohepatitis.
Mori J; Umemura A; Satake W; Cha PC; Suzuki Y; Itoh K; Chiyonobu T
J Clin Endocrinol Metab; 2022 Jan; 107(1):e38-e43. PubMed ID: 34435630
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
