184 related articles for article (PubMed ID: 37640998)
21. 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]
22. [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]
23. Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients.
Masotti C; Ornelas CC; Splendore-Gordonos A; Moura R; Félix TM; Alonso N; Camargo AA; Passos-Bueno MR
BMC Med Genet; 2009 Dec; 10():136. PubMed ID: 20003452
[TBL] [Abstract][Full Text] [Related]
24. Identification of a novel TCOF1 mutation in a Chinese family with Treacher Collins syndrome.
Yan Z; Lu Y; Wang Y; Zhang X; Duan H; Cheng J; Yuan H; Han D
Exp Ther Med; 2018 Sep; 16(3):2645-2650. PubMed ID: 30186496
[TBL] [Abstract][Full Text] [Related]
25. 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]
26. 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]
27. 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]
28. Gross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndrome.
Bowman M; Oldridge M; Archer C; O'Rourke A; McParland J; Brekelmans R; Seller A; Lester T
Eur J Hum Genet; 2012 Jul; 20(7):769-77. PubMed ID: 22317976
[TBL] [Abstract][Full Text] [Related]
29. A novel silent deletion, an insertion mutation and a nonsense mutation in the TCOF1 gene found in two Chinese cases of Treacher Collins syndrome.
Wang Y; Yin XJ; Han T; Peng W; Wu HL; Liu X; Feng ZC
Mol Genet Genomics; 2014 Dec; 289(6):1237-40. PubMed ID: 24994558
[TBL] [Abstract][Full Text] [Related]
30. Clinical features, treatment and genetic background of Treacher Collins syndrome.
Marszałek B; Wójcicki P; Kobus K; Trzeciak WH
J Appl Genet; 2002; 43(2):223-33. PubMed ID: 12080178
[TBL] [Abstract][Full Text] [Related]
31. Identification of mutations in TCOF1: use of molecular analysis in the pre- and postnatal diagnosis of Treacher Collins syndrome.
Dixon J; Ellis I; Bottani A; Temple K; Dixon MJ
Am J Med Genet A; 2004 Jun; 127A(3):244-8. PubMed ID: 15150774
[TBL] [Abstract][Full Text] [Related]
32. Phenotype Analysis and Genetic Study of Chinese Patients With Treacher Collins Syndrome.
Lu M; Yang B; Chen Z; Jiang H; Pan B
Cleft Palate Craniofac J; 2022 Aug; 59(8):1038-1047. PubMed ID: 34397304
[TBL] [Abstract][Full Text] [Related]
33. Mutation testing in Treacher Collins Syndrome.
Ellis PE; Dawson M; Dixon MJ
J Orthod; 2002 Dec; 29(4):293-7; discussion 278. PubMed ID: 12444270
[TBL] [Abstract][Full Text] [Related]
34. Mandibulofacial dysostosis (Treacher-Collins syndrome) in the fetus: novel association with Pectus carinatum in a molecularly confirmed case and review of the fetal phenotype.
Konstantinidou AE; Tasoulas J; Kallipolitis G; Gasparatos S; Velissariou V; Paraskevakou H
Birth Defects Res A Clin Mol Teratol; 2013 Dec; 97(12):774-80. PubMed ID: 24288143
[TBL] [Abstract][Full Text] [Related]
35. Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation.
Teber OA; Gillessen-Kaesbach G; Fischer S; Böhringer S; Albrecht B; Albert A; Arslan-Kirchner M; Haan E; Hagedorn-Greiwe M; Hammans C; Henn W; Hinkel GK; König R; Kunstmann E; Kunze J; Neumann LM; Prott EC; Rauch A; Rott HD; Seidel H; Spranger S; Sprengel M; Zoll B; Lohmann DR; Wieczorek D
Eur J Hum Genet; 2004 Nov; 12(11):879-90. PubMed ID: 15340364
[TBL] [Abstract][Full Text] [Related]
36. [Gene testing in Treacher Collins syndrome].
Zsigmond A; Till Á; Pintér AL; Maász A; Szabó A; Hadzsiev K
Orv Hetil; 2020 Dec; 161(52):2201-2205. PubMed ID: 33361506
[TBL] [Abstract][Full Text] [Related]
37. TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region.
Wise CA; Chiang LC; Paznekas WA; Sharma M; Musy MM; Ashley JA; Lovett M; Jabs EW
Proc Natl Acad Sci U S A; 1997 Apr; 94(7):3110-5. PubMed ID: 9096354
[TBL] [Abstract][Full Text] [Related]
38. Novel autosomal dominant mandibulofacial dysostosis with ptosis: clinical description and exclusion of TCOF1.
Hedera P; Toriello HV; Petty EM
J Med Genet; 2002 Jul; 39(7):484-8. PubMed ID: 12114479
[TBL] [Abstract][Full Text] [Related]
39. Reduced TCOF1 mRNA level in a rhesus macaque with Treacher Collins-like syndrome: further evidence for haploinsufficiency of treacle as the cause of disease.
Shows KH; Ward C; Summers L; Li L; Ziegler GR; Hendrickx AG; Shiang R
Mamm Genome; 2006 Feb; 17(2):168-77. PubMed ID: 16465596
[TBL] [Abstract][Full Text] [Related]
40. Prenatally diagnosed microdeletion in the TCOF1 gene in fetal congenital primary Treacher Collins Syndrome.
Chou WS; Chen JS; Shiao YM; Tsauer JC; Chang YF; Hsiao CH
Taiwan J Obstet Gynecol; 2022 May; 61(3):514-516. PubMed ID: 35595448
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
