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Items: 1 to 20 of 795

1.

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. doi: 10.1002/ajmg.a.32747.

PMID:
19334086
2.

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.

3.

Microtia, severe micrognathia and absent ossicles: auriculo-condylar syndrome or new entity?

Nezarati MM, Aftimos S.

Clin Dysmorphol. 2007 Jan;16(1):9-13.

PMID:
17159508
4.
5.

Phenotype analysis of Polish patients with mandibulofacial dysostosis type Guion-Almeida associated with esophageal atresia and choanal atresia caused by EFTUD2 gene mutations.

Smigiel R, Bezniakow N, Jakubiak A, Błoch M, Patkowski D, Obersztyn E, Sasiadek MM.

J Appl Genet. 2015 May;56(2):199-204. doi: 10.1007/s13353-014-0255-4. Epub 2014 Nov 12.

PMID:
25387991
6.

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. Review.

PMID:
12080178
7.
8.

Syndromic ear anomalies and renal ultrasounds.

Wang RY, Earl DL, Ruder RO, Graham JM Jr.

Pediatrics. 2001 Aug;108(2):E32.

PMID:
11483842
9.

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 15;127A(3):244-8.

PMID:
15150774
10.

Treacher Collins Syndrome with choanal atresia: a case report and review of disease features.

Andrade EC, Júnior VS, Didoni AL, Freitas PZ, Carneiro AF, Yoshimoto FR.

Braz J Otorhinolaryngol. 2005 Jan-Feb;71(1):107-10. Epub 2006 Jan 2.

11.

Orofacial features of Treacher Collins syndrome.

Martelli-Junior H, Coletta RD, Miranda RT, Barros LM, Swerts MS, Bonan PR.

Med Oral Patol Oral Cir Bucal. 2009 Jul 1;14(7):E344-8.

12.

Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations.

Voigt C, Mégarbané A, Neveling K, Czeschik JC, Albrecht B, Callewaert B, von Deimling F, Hehr A, Falkenberg Smeland M, König R, Kuechler A, Marcelis C, Puiu M, Reardon W, Riise Stensland HM, Schweiger B, Steehouwer M, Teller C, Martin M, Rahmann S, Hehr U, Brunner HG, Lüdecke HJ, Wieczorek D.

Orphanet J Rare Dis. 2013 Jul 24;8:110. doi: 10.1186/1750-1172-8-110.

13.

Mutational analysis of the TCOF1 gene in 11 Japanese patients with Treacher Collins Syndrome and mechanism of mutagenesis.

Horiuchi K, Ariga T, Fujioka H, Kawashima K, Yamamoto Y, Igawa H, Sugihara T, Sakiyama Y.

Am J Med Genet A. 2005 May 1;134(4):363-7.

PMID:
15759264
14.

"Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotype.

Luquetti DV, Hing AV, Rieder MJ, Nickerson DA, Turner EH, Smith J, Park S, Cunningham ML.

Am J Med Genet A. 2013 Jan;161A(1):108-13. doi: 10.1002/ajmg.a.35696. Epub 2012 Dec 14.

15.

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 15;143A(10):1053-9.

16.

Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and mental retardation--new MCA/MR syndrome in two affected sibs and a mildly affected mother?

Wieczorek D, Shaw-Smith C, Kohlhase J, Schmitt W, Buiting K, Coffey A, Howard E, Hehr U, Gillessen-Kaesbach G.

Am J Med Genet A. 2007 Jun 1;143A(11):1135-42.

PMID:
17497718
17.

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 27;12:125. doi: 10.1186/1471-2350-12-125.

18.

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. doi: 10.1002/ajmg.a.33477.

PMID:
20583178
19.

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. doi: 10.1002/bdra.23202. Epub 2013 Nov 29.

PMID:
24288143
20.

Mosaicism of a TCOF1 mutation in an individual clinically unaffected with Treacher Collins syndrome.

Shoo BA, McPherson E, Jabs EW.

Am J Med Genet A. 2004 Apr 1;126A(1):84-8.

PMID:
15039977
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