Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 20 of 63

1.

Treacher Collins syndrome 3 (TCS3)-associated POLR1C mutants are localized in the lysosome and inhibits chondrogenic differentiation.

Matsumoto N, Kaneko M, Watanabe N, Itaoka M, Seki Y, Morimoto T, Torii T, Miyamoto Y, Keiichi Homma, Yamauchi J.

Biochem Biophys Res Commun. 2018 Apr 30;499(1):78-85. doi: 10.1016/j.bbrc.2018.03.136. Epub 2018 Mar 21.

PMID:
29567474
2.

Tissue-selective effects of nucleolar stress and rDNA damage in developmental disorders.

Calo E, Gu B, Bowen ME, Aryan F, Zalc A, Liang J, Flynn RA, Swigut T, Chang HY, Attardi LD, Wysocka J.

Nature. 2018 Feb 1;554(7690):112-117. doi: 10.1038/nature25449. Epub 2018 Jan 24.

3.

Mutation screening of Chinese Treacher Collins syndrome patients identified novel TCOF1 mutations.

Chen Y, Guo L, Li CL, Shan J, Xu HS, Li JY, Sun S, Hao SJ, Jin L, Chai G, Zhang TY.

Mol Genet Genomics. 2018 Apr;293(2):569-577. doi: 10.1007/s00438-017-1384-3. Epub 2017 Dec 11.

PMID:
29230583
4.

Treacher Collins syndrome mutations in Saccharomyces cerevisiae destabilize RNA polymerase I and III complex integrity.

Walker-Kopp N, Jackobel AJ, Pannafino GN, Morocho PA, Xu X, Knutson BA.

Hum Mol Genet. 2017 Nov 1;26(21):4290-4300. doi: 10.1093/hmg/ddx317.

PMID:
28973381
5.

Chronic intestinal pseudo-obstruction in a child with Treacher Collins syndrome.

Giabicani E, Lemale J, Dainese L, Boudjemaa S, Coulomb A, Tounian P, Dubern B.

Arch Pediatr. 2017 Oct;24(10):1000-1004. doi: 10.1016/j.arcped.2017.07.004. Epub 2017 Sep 15.

PMID:
28927774
6.

A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders.

Wilbe M, Gudmundsson S, Johansson J, Ameur A, Stattin EL, Annerén G, Malmgren H, Frykholm C, Bondeson ML.

Prenat Diagn. 2017 Nov;37(11):1146-1154. doi: 10.1002/pd.5156. Epub 2017 Oct 17.

7.

Cephalometric Predictors of Clinical Severity in Treacher Collins Syndrome.

Esenlik E, Plana NM, Grayson BH, Flores RL.

Plast Reconstr Surg. 2017 Dec;140(6):1240-1249. doi: 10.1097/PRS.0000000000003853.

PMID:
28820843
8.

Whole-exome sequencing identified a variant in EFTUD2 gene in establishing a genetic diagnosis.

Rengasamy Venugopalan S, Farrow EG, Lypka M.

Orthod Craniofac Res. 2017 Jun;20 Suppl 1:50-56. doi: 10.1111/ocr.12150.

PMID:
28643921
9.

A Morphological Classification Scheme for the Mandibular Hypoplasia in Treacher Collins Syndrome.

Ligh CA, Swanson J, Yu JW, Samra F, Bartlett SP, Taylor JA.

J Craniofac Surg. 2017 May;28(3):683-687. doi: 10.1097/SCS.0000000000003470.

PMID:
28468148
10.

Rare syndromes of the head and face: mandibulofacial and acrofacial dysostoses.

Terrazas K, Dixon J, Trainor PA, Dixon MJ.

Wiley Interdiscip Rev Dev Biol. 2017 May;6(3). doi: 10.1002/wdev.263. Epub 2017 Feb 10. Review.

11.

The airway approach to a neonate with Treacher Collins syndrome - Case report.

Marques-Pires R, Trindade H.

Rev Esp Anestesiol Reanim. 2017 Apr;64(4):233-236. doi: 10.1016/j.redar.2016.10.003. Epub 2017 Jan 13. English, Spanish.

PMID:
28094032
12.

Bilateral Malar Reconstruction Using Patient-Specific Polyether Ether Ketone Implants in Treacher-Collins Syndrome Patients With Absent Zygomas.

Sainsbury DC, George A, Forrest CR, Phillips JH.

J Craniofac Surg. 2017 Mar;28(2):515-517. doi: 10.1097/SCS.0000000000003351.

PMID:
28045828
13.

Treacher Collins syndrome: New insights from animal models.

Tse WK.

Int J Biochem Cell Biol. 2016 Dec;81(Pt A):44-47. doi: 10.1016/j.biocel.2016.10.016. Epub 2016 Oct 21. Review.

PMID:
27777025
14.

Combined soft and skeletal tissue modelling of normal and dysmorphic midface postnatal development.

Ibrahim A, Suttie M, Bulstrode NW, Britto JA, Dunaway D, Hammond P, Ferretti P.

J Craniomaxillofac Surg. 2016 Nov;44(11):1777-1785. doi: 10.1016/j.jcms.2016.08.020. Epub 2016 Sep 2.

15.

Cnbp ameliorates Treacher Collins Syndrome craniofacial anomalies through a pathway that involves redox-responsive genes.

de Peralta MS, Mouguelar VS, Sdrigotti MA, Ishiy FA, Fanganiello RD, Passos-Bueno MR, Coux G, Calcaterra NB.

Cell Death Dis. 2016 Oct 6;7(10):e2397. doi: 10.1038/cddis.2016.299.

16.

Long-Term Surgical and Speech Outcomes Following Palatoplasty in Patients With Treacher-Collins Syndrome.

Golinko MS, LeBlanc EM, Hallett AM, Alperovich M, Flores RL.

J Craniofac Surg. 2016 Sep;27(6):1408-11. doi: 10.1097/SCS.0000000000002821.

PMID:
27607112
17.

Mutational Analysis of TCOF1, GSC, and HOXA2 in Patients With Treacher Collins Syndrome.

Hao S, Jin L, Wang H, Li C, Zheng F, Ma D, Zhang T.

J Craniofac Surg. 2016 Sep;27(6):e583-6. doi: 10.1097/SCS.0000000000002934.

18.

The Roles of RNA Polymerase I and III Subunits Polr1c and Polr1d in Craniofacial Development and in Zebrafish Models of Treacher Collins Syndrome.

Noack Watt KE, Achilleos A, Neben CL, Merrill AE, Trainor PA.

PLoS Genet. 2016 Jul 22;12(7):e1006187. doi: 10.1371/journal.pgen.1006187. eCollection 2016 Jul.

19.

Tcof1-Related Molecular Networks in Treacher Collins Syndrome.

Dai J, Si J, Wang M, Huang L, Fang B, Shi J, Wang X, Shen G.

J Craniofac Surg. 2016 Sep;27(6):1420-6. doi: 10.1097/SCS.0000000000002719.

PMID:
27300466
20.

Treacher Collins Syndrome: A Systematic Review of Evidence-Based Treatment and Recommendations.

Herlin C, Genevieve D, Vincent M, Chaput B, Captier G.

Plast Reconstr Surg. 2016 Aug;138(2):374e-6e. doi: 10.1097/PRS.0000000000002381. No abstract available.

PMID:
27070215

Supplemental Content

Loading ...
Support Center