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Literature DB >> 8558560

Treacher Collins syndrome.

M J Dixon¹.

Abstract

Entities: Disease

Mesh：

Year: 1995 PMID： 8558560 PMCID： PMC1051706 DOI： 10.1136/jmg.32.10.806

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

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25 in total

1. MANDIBULOFACIAL DYSOSTOSIS, A FAMILIAL STUDY OF FIVE GENERATIONS.

Authors: S ROVIN; S F DACHI; D B BORENSTEIN; W B COTTER
Journal: J Pediatr Date: 1964-08 Impact factor: 4.406

2. Effects of retinoic acid on the development of the facial skeleton in hamsters: early changes involving cranial neural crest cells.

Authors: M J Wiley; P Cauwenbergs; I M Taylor
Journal: Acta Anat (Basel) Date: 1983

3. Growth inhibition and occurrence of cleft palates due to hypervitaminosis A.

Authors: J B Pick; C A Evans
Journal: Experientia Date: 1981-11-15

4. Prenatal diagnosis of mandibulofacial dysostosis.

Authors: K H Nicolaides; D Johansson; D Donnai; C H Rodeck
Journal: Prenat Diagn Date: 1984 May-Jun Impact factor: 3.050

5. The pathogenesis of the Treacher Collins syndrome (mandibulofacial dysostosis).

Authors: D Poswillo
Journal: Br J Oral Surg Date: 1975-07

6. Mandibulofacial dysostosis (Treacher Collins syndrome): a new proposal for its pathogenesis.

Authors: K K Sulik; M C Johnston; S J Smiley; H S Speight; B E Jarvis
Journal: Am J Med Genet Date: 1987-06

7. The ear deformities in mandibulofacial dysostosis (Treacher Collins syndrome).

Authors: P D Phelps; D Poswillo; G A Lloyd
Journal: Clin Otolaryngol Allied Sci Date: 1981-02

8. Retinoic-acid-induced limb malformations resulting from apical ectodermal ridge cell death.

Authors: K K Sulik; D B Dehart
Journal: Teratology Date: 1988-06

9. Franceschetti syndrome in a child with a de novo balanced translocation (5;13)(q11;p11) and significant decrease of hexosaminidase B.

Authors: P Balestrazzi; M A Baeteman; M G Mattei; J F Mattei
Journal: Hum Genet Date: 1983 Impact factor: 4.132

10. Effects of vitamin A on the behaviour of migratory neural crest cells in vitro.

Authors: P Thorogood; L Smith; A Nicol; R McGinty; D Garrod
Journal: J Cell Sci Date: 1982-10 Impact factor: 5.285

12 in total

Review 1. The development of the mammalian outer and middle ear.

Authors: Neal Anthwal; Hannah Thompson
Journal: J Anat Date: 2015-07-30 Impact factor: 2.610

Review 2. Syndromes of the first and second branchial arches, part 2: syndromes.

Authors: J M Johnson; G Moonis; G E Green; R Carmody; H N Burbank
Journal: AJNR Am J Neuroradiol Date: 2010-04-01 Impact factor: 3.825

3. Usefulness of videofluoroscopic swallow study in treacher collins syndrome with cleft palate: a case report.

Authors: Do-Won Hwang; Kang-Jae Jung; Seung-Yeon Kim; Jae-Hyung Kim
Journal: Ann Rehabil Med Date: 2014-10-30

4. Association between obstructive sleep apnea and health-related quality of life in individuals affected with Treacher Collins syndrome.

Authors: Amy Østertun Geirdal; Britt Øverland; Ketil Heimdal; Kari Storhaug; Pamela Asten; Harriet Akre
Journal: Eur Arch Otorhinolaryngol Date: 2013-02-28 Impact factor: 2.503

Review 5. Neural crest contributions to the ear: Implications for congenital hearing disorders.

Authors: K Elaine Ritter; Donna M Martin
Journal: Hear Res Date: 2018-11-14 Impact factor: 3.208

6. Reduced TCOF1 mRNA level in a rhesus macaque with Treacher Collins-like syndrome: further evidence for haploinsufficiency of treacle as the cause of disease.

Authors: Kathryn H Shows; Christy Ward; Laura Summers; Lin Li; Gregory R Ziegler; Andrew G Hendrickx; Rita Shiang
Journal: Mamm Genome Date: 2006-02-07 Impact factor: 2.957