Literature DB >> 512782

Asphyxiating thoracic dystrophy (Jeune's disease) with retinal aplasia: a sibship of two.

C I Phillips, N L Stokoe, R S Bartholomew.   

Abstract

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Mesh：

Year:  1979        PMID： 512782     DOI： 10.3928/0191-3913-19790901-03

Source DB:  PubMed          Journal:  J Pediatr Ophthalmol Strabismus        ISSN： 0191-3913            Impact factor:   1.402


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  5 in total

1.  Senior-Loken syndrome. Case reports of two siblings and association with sensorineural deafness.

Authors:  M P Clarke; T J Sullivan; C Francis; R Baumal; T Fenton; W G Pearce
Journal:  Br J Ophthalmol       Date:  1992-03       Impact factor: 4.638

2.  The intraflagellar transport protein ift80 is essential for photoreceptor survival in a zebrafish model of jeune asphyxiating thoracic dystrophy.

Authors:  Leah M Hudak; Shannon Lunt; Chi-Hsuan Chang; Ethan Winkler; Halley Flammer; Michael Lindsey; Brian D Perkins
Journal:  Invest Ophthalmol Vis Sci       Date:  2010-03-05       Impact factor: 4.799

3.  Thoracic-pelvic dysostosis: a 'new' autosomal dominant form.

Authors:  A Bankier; D M Danks
Journal:  J Med Genet       Date:  1983-08       Impact factor: 6.318

4.  Necropsy findings in neonatal asphyxiating thoracic dystrophy.

Authors:  S B Turkel; E J Diehl; J A Richmond
Journal:  J Med Genet       Date:  1985-04       Impact factor: 6.318

Review 5.  Ciliopathies: an expanding disease spectrum.

Authors:  Aoife M Waters; Philip L Beales
Journal:  Pediatr Nephrol       Date:  2011-01-06       Impact factor: 3.714
  5 in total

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