Literature DB >> 14198411

MANDIBULOFACIAL DYSOSTOSIS, A FAMILIAL STUDY OF FIVE GENERATIONS.

S ROVIN, S F DACHI, D B BORENSTEIN, W B COTTER.   

Abstract

Keywords:  CHILD; GENETICS, HUMAN; MANDIBULOFACIAL DYSOSTOSIS

Mesh：

Year:  1964        PMID： 14198411     DOI： 10.1016/s0022-3476(64)80522-9

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  20 in total

1.  The gene for Treacher Collins syndrome maps to the long arm of chromosome 5.

Authors:  M J Dixon; A P Read; D Donnai; A Colley; J Dixon; R Williamson
Journal:  Am J Hum Genet       Date:  1991-07       Impact factor: 11.025

2.  The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon.

Authors:  S J Edwards; A J Gladwin; M J Dixon
Journal:  Am J Hum Genet       Date:  1997-03       Impact factor: 11.025

Review 3.  Rare syndromes of the head and face: mandibulofacial and acrofacial dysostoses.

Authors:  Karla Terrazas; Jill Dixon; Paul A Trainor; Michael J Dixon
Journal:  Wiley Interdiscip Rev Dev Biol       Date:  2017-02-10       Impact factor: 5.814

Review 4.  Syndromic Hearing Loss: A Brief Review of Common Presentations and Genetics.

Authors:  John D Gettelfinger; John P Dahl
Journal:  J Pediatr Genet       Date:  2018-01-04

5.  Association of Treacher Collins syndrome and translocation 6p21.31/16p13.11: exclusion of the locus from these candidate regions.

Authors:  M J Dixon; E Haan; E Baker; D David; N McKenzie; R Williamson; J Mulley; M Farrall; D Callen
Journal:  Am J Hum Genet       Date:  1991-02       Impact factor: 11.025

Review 6.  Treacher Collins syndrome.

Authors:  M J Dixon
Journal:  J Med Genet       Date:  1995-10       Impact factor: 6.318

7.  A YAC contig encompassing the Treacher Collins syndrome critical region at 5q31.3-32.

Authors:  J Dixon; A J Gladwin; S K Loftus; J H Riley; R Perveen; J J Wasmuth; R Anand; M J Dixon
Journal:  Am J Hum Genet       Date:  1994-08       Impact factor: 11.025

8.  Mandibulo-facial dysostosis. A familial study.

Authors:  J E Farrar
Journal:  Br J Ophthalmol       Date:  1967-02       Impact factor: 4.638

9.  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

10.  Treacher Collins syndrome: etiology, pathogenesis and prevention.

Authors:  Paul A Trainor; Jill Dixon; Michael J Dixon
Journal:  Eur J Hum Genet       Date:  2008-12-24       Impact factor: 4.246
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