223 related articles for article (PubMed ID: 17431905)
1. Mandibulofacial dysostosis in a patient with a de novo 2;17 translocation that disrupts the HOXD gene cluster.
Stevenson DA; Bleyl SB; Maxwell T; Brothman AR; South ST
Am J Med Genet A; 2007 May; 143A(10):1053-9. PubMed ID: 17431905
[TBL] [Abstract][Full Text] [Related]
2. Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome.
Wieczorek D; Gener B; González MJ; Seland S; Fischer S; Hehr U; Kuechler A; Hoefsloot LH; de Leeuw N; Gillessen-Kaesbach G; Lohmann DR
Am J Med Genet A; 2009 May; 149A(5):837-43. PubMed ID: 19334086
[TBL] [Abstract][Full Text] [Related]
3. Treacher Collins syndrome with a de Novo 5-bp deletion in the TCOF1 gene.
Su PH; Chen JY; Chen SJ; Yu JS
J Formos Med Assoc; 2006 Jun; 105(6):518-21. PubMed ID: 16801042
[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. 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]
6. De novo TCOF1 mutation in Treacher Collins syndrome.
Liu J; Dong J; Li P; Duan W
Int J Pediatr Otorhinolaryngol; 2021 Aug; 147():110765. PubMed ID: 34058530
[TBL] [Abstract][Full Text] [Related]
7. Mandibulofacial dysostosis, severe lower eyelid coloboma, cleft palate, and alopecia: A new distinct form of mandibulofacial dysostosis or a severe form of Johnson-McMillin syndrome?
Zechi-Ceide RM; Guion-Almeida ML; Jehee FS; Rocha K; Passos-Bueno MR
Am J Med Genet A; 2010 Jul; 152A(7):1838-40. PubMed ID: 20583178
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Mild mandibulofacial dysostosis in a child with a deletion of 3p.
Arn PH; Mankinen C; Jabs EW
Am J Med Genet; 1993 Jun; 46(5):534-6. PubMed ID: 8322816
[TBL] [Abstract][Full Text] [Related]
10. Phenotypic and Molecular Heterogeneity in Mandibulofacial Dysostoses: A Case Series From India.
Shenoy RD; Shetty V; Dheedene A; Menten B; Pandyanda Nanjappa D; Chakraborty G; Sips P; de Paepe A; Callewaert B; Chakraborty A
Cleft Palate Craniofac J; 2022 Nov; 59(11):1346-1351. PubMed ID: 34714179
[TBL] [Abstract][Full Text] [Related]
11. Clinical and molecular delineation of mandibulofacial dysostosis with microcephaly in six Korean patients: When to consider EFTUD2 analysis?
Ryu JH; Kim HY; Ko JM; Kim MJ; Seong MW; Choi BY; Chae JH
Eur J Med Genet; 2022 May; 65(5):104478. PubMed ID: 35395430
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability.
Vincent M; Collet C; Verloes A; Lambert L; Herlin C; Blanchet C; Sanchez E; Drunat S; Vigneron J; Laplanche JL; Puechberty J; Sarda P; Geneviève D
Eur J Hum Genet; 2014 Jan; 22(1):52-6. PubMed ID: 23695276
[TBL] [Abstract][Full Text] [Related]
14. Two novel pathogenic variants in the TCOF1 found in two Chinese cases of Treacher Collins syndrome.
Zhuang DY; Sun SN; Hu ZJ; Xie M; Zhang YX; Yan LL; Pan JW; Li HB
Mol Genet Genomic Med; 2024 Mar; 12(3):e2405. PubMed ID: 38444283
[TBL] [Abstract][Full Text] [Related]
15. A novel de novo missense mutation in EFTUD2 identified by whole-exome sequencing in mandibulofacial dysostosis with microcephaly.
Yang M; Liu Y; Lin Z; Sun H; Hu T
J Clin Lab Anal; 2022 May; 36(5):e24440. PubMed ID: 35435265
[TBL] [Abstract][Full Text] [Related]
16. Association of Treacher Collins syndrome and translocation 6p21.31/16p13.11: exclusion of the locus from these candidate regions.
Dixon MJ; Haan E; Baker E; David D; McKenzie N; Williamson R; Mulley J; Farrall M; Callen D
Am J Hum Genet; 1991 Feb; 48(2):274-80. PubMed ID: 1671319
[TBL] [Abstract][Full Text] [Related]
17. A novel nonsense mutation in the TCOF1 gene in one Chinese newborn with Treacher Collins syndrome.
Zeng H; Xie M; Li J; Xie H; Lu X
Int J Pediatr Otorhinolaryngol; 2021 Feb; 141():110561. PubMed ID: 33341718
[TBL] [Abstract][Full Text] [Related]
18. Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome.
Conte C; D'Apice MR; Rinaldi F; Gambardella S; Sangiuolo F; Novelli G
BMC Med Genet; 2011 Sep; 12():125. PubMed ID: 21951868
[TBL] [Abstract][Full Text] [Related]
19. A Novel Missense Variant in the
Yin B; Pang YY; Shi JY; Lin YS; Sun JL; Zheng Q; Shi B; Jia ZL
Cleft Palate Craniofac J; 2024 Feb; 61(2):192-199. PubMed ID: 36082953
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]