Literature DB >> 11914220

Treacher Collins syndrome with novel ophthalmic findings and visceral anomalies.

J L Prenner, G Binenbaum, D F Carpentieri, S M Goldstein, R S Douglas, E Ruchelli, J A Katowitz, R W Hertle.   

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Year:  2002        PMID： 11914220      PMCID： PMC1771072          DOI： 10.1136/bjo.86.4.472

Source DB:  PubMed          Journal:  Br J Ophthalmol        ISSN： 0007-1161            Impact factor:   4.638


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  9 in total

1.  Older paternal age and fresh gene mutation: data on additional disorders.

Authors:  K L Jones; D W Smith; M A Harvey; B D Hall; L Quan
Journal:  J Pediatr       Date:  1975-01       Impact factor: 4.406

2.  Treacher Collins-Franceschetti syndrome with tracheoesophageal fistula, rectovaginal fistula, and anal atresia: variant, or new syndrome?

Authors:  L J Robb; F C Fraser; V M Der Kaloustian
Journal:  Am J Med Genet       Date:  1991-04-01

3.  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

4.  TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region.

Authors:  C A Wise; L C Chiang; W A Paznekas; M Sharma; M M Musy; J A Ashley; M Lovett; E W Jabs
Journal:  Proc Natl Acad Sci U S A       Date:  1997-04-01       Impact factor: 11.205

Review 5.  High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes.

Authors:  A Splendore; E O Silva; L G Alonso; A Richieri-Costa; N Alonso; A Rosa; G Carakushanky; D P Cavalcanti; D Brunoni; M R Passos-Bueno
Journal:  Hum Mutat       Date:  2000-10       Impact factor: 4.878

6.  Prenatal diagnosis in Treacher Collins syndrome using combined linkage analysis and ultrasound imaging.

Authors:  S J Edwards; A Fowlie; M P Cust; D T Liu; I D Young; M J Dixon
Journal:  J Med Genet       Date:  1996-07       Impact factor: 6.318

7.  Ophthalmic features and visual prognosis in the Treacher-Collins syndrome.

Authors:  R W Hertle; S Ziylan; J A Katowitz
Journal:  Br J Ophthalmol       Date:  1993-10       Impact factor: 4.638

8.  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

9.  Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group.

Authors: 
Journal:  Nat Genet       Date:  1996-02       Impact factor: 38.330
  9 in total
  1 in total

1.  Macular degeneration associated with a novel Treacher Collins tcof1 mutation and evaluation of this mutation in age related macular degeneration.

Authors:  S V Goverdhan; I K Temple; J Self; A J Lotery; M J Dixon; A R Evans
Journal:  Br J Ophthalmol       Date:  2005-08       Impact factor: 4.638
  1 in total

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