215 related articles for article (PubMed ID: 31649276)
1. POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4.
Sanchez E; Laplace-Builhé B; Mau-Them FT; Richard E; Goldenberg A; Toler TL; Guignard T; Gatinois V; Vincent M; Blanchet C; Boland A; Bihoreau MT; Deleuze JF; Olaso R; Nephi W; Lüdecke HJ; Verheij JBGM; Moreau-Lenoir F; Denoyelle F; Rivière JB; Laplanche JL; Willing M; Captier G; Apparailly F; Wieczorek D; Collet C; Djouad F; Geneviève D
Genet Med; 2020 Mar; 22(3):547-556. PubMed ID: 31649276
[TBL] [Abstract][Full Text] [Related]
2. 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; 12(7):e1006187. PubMed ID: 27448281
[TBL] [Abstract][Full Text] [Related]
3. Treacher Collins Syndrome: the genetics of a craniofacial disease.
Kadakia S; Helman SN; Badhey AK; Saman M; Ducic Y
Int J Pediatr Otorhinolaryngol; 2014 Jun; 78(6):893-8. PubMed ID: 24690222
[TBL] [Abstract][Full Text] [Related]
4. Treacher Collins Syndrome: Genetics, Clinical Features and Management.
Marszałek-Kruk BA; Wójcicki P; Dowgierd K; Śmigiel R
Genes (Basel); 2021 Sep; 12(9):. PubMed ID: 34573374
[TBL] [Abstract][Full Text] [Related]
5. Pathogenesis of POLR1C-dependent Type 3 Treacher Collins Syndrome revealed by a zebrafish model.
Lau MC; Kwong EM; Lai KP; Li JW; Ho JC; Chan TF; Wong CK; Jiang YJ; Tse WK
Biochim Biophys Acta; 2016 Jun; 1862(6):1147-58. PubMed ID: 26972049
[TBL] [Abstract][Full Text] [Related]
6. Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.
Vincent M; Geneviève D; Ostertag A; Marlin S; Lacombe D; Martin-Coignard D; Coubes C; David A; Lyonnet S; Vilain C; Dieux-Coeslier A; Manouvrier S; Isidor B; Jacquemont ML; Julia S; Layet V; Naudion S; Odent S; Pasquier L; Pelras S; Philip N; Pierquin G; Prieur F; Aboussair N; Attie-Bitach T; Baujat G; Blanchet P; Blanchet C; Dollfus H; Doray B; Schaefer E; Edery P; Giuliano F; Goldenberg A; Goizet C; Guichet A; Herlin C; Lambert L; Leheup B; Martinovic J; Mercier S; Mignot C; Moutard ML; Perez MJ; Pinson L; Puechberty J; Willems M; Randrianaivo H; Szakszon K; Toutain A; Verloes A; Vigneron J; Sanchez E; Sarda P; Laplanche JL; Collet C
Genet Med; 2016 Jan; 18(1):49-56. PubMed ID: 25790162
[TBL] [Abstract][Full Text] [Related]
7. TCOF1 pathogenic variants identified by Whole-exome sequencing in Chinese Treacher Collins syndrome families and hearing rehabilitation effect.
Fan X; Wang Y; Fan Y; Du H; Luo N; Zhang S; Chen X
Orphanet J Rare Dis; 2019 Jul; 14(1):178. PubMed ID: 31307516
[TBL] [Abstract][Full Text] [Related]
8. [The research progress of Treacher Collins syndrome].
Wang P; Fan X; Fan Y
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2016 Feb; 30(4):333-8. PubMed ID: 27373049
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 29230583
[TBL] [Abstract][Full Text] [Related]
10. Tissue specific roles for the ribosome biogenesis factor Wdr43 in zebrafish development.
Zhao C; Andreeva V; Gibert Y; LaBonty M; Lattanzi V; Prabhudesai S; Zhou Y; Zon L; McCann KL; Baserga S; Yelick PC
PLoS Genet; 2014 Jan; 10(1):e1004074. PubMed ID: 24497835
[TBL] [Abstract][Full Text] [Related]
11. [Pathogenic genes and clinical therapeutic strategies for Treacher Collins syndrome].
Yin B; Shi B; Jia ZL
Hua Xi Kou Qiang Yi Xue Za Zhi; 2019 Jun; 37(3):330-335. PubMed ID: 31218872
[TBL] [Abstract][Full Text] [Related]
12. A systematic review on Treacher Collins syndrome: Correlation between molecular genetic findings and clinical severity.
Ulhaq ZS; Nurputra DK; Soraya GV; Kurniawati S; Istifiani LA; Pamungkas SA; Tse WKF
Clin Genet; 2023 Feb; 103(2):146-155. PubMed ID: 36203321
[TBL] [Abstract][Full Text] [Related]
13. Genotype-phenotype variability in Chinese cases of Treacher Collins syndrome.
Li X; Su Y; Huang S; Gao B; Zhang D; Wang X; Gao Q; Pang H; Zhao Y; Yuan Y; Dai P
Acta Otolaryngol; 2019 Jul; 139(7):567-575. PubMed ID: 31107123
[No Abstract] [Full Text] [Related]
14. 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; 554(7690):112-117. PubMed ID: 29364875
[TBL] [Abstract][Full Text] [Related]
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; 7(10):e2397. PubMed ID: 27711076
[TBL] [Abstract][Full Text] [Related]
16. Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, Treacher Collins syndrome.
Dixon J; Brakebusch C; Fässler R; Dixon MJ
Hum Mol Genet; 2000 Jun; 9(10):1473-80. PubMed ID: 10888597
[TBL] [Abstract][Full Text] [Related]
17. Treacher Collins syndrome.
Dixon J; Trainor P; Dixon MJ
Orthod Craniofac Res; 2007 May; 10(2):88-95. PubMed ID: 17552945
[TBL] [Abstract][Full Text] [Related]
18. Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome.
Schaefer E; Collet C; Genevieve D; Vincent M; Lohmann DR; Sanchez E; Bolender C; Eliot MM; Nürnberg G; Passos-Bueno MR; Wieczorek D; van Maldergem L; Doray B
Genet Med; 2014 Sep; 16(9):720-4. PubMed ID: 24603435
[TBL] [Abstract][Full Text] [Related]
19. Clinical and molecular study of Egyptian patients with Treacher Collins syndrome.
Elbagoury NM; Nabil A; Abdel-Aleem AF; Habib A; Ashaat EA; Sharaf-Eldin WE; Esswai ML
Clin Dysmorphol; 2023 Oct; 32(4):156-161. PubMed ID: 37646764
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
