Literature DB >> 13292988

[Asphyxiating thoracic dystrophy with familial characteristics].

M JEUNE, C BERAUD, R CARRON.   

Abstract

Entities:  

Keywords:  ABNORMALITIES; THORAX/abnormalities

Mesh：

Year:  1955        PMID： 13292988

Source DB:  PubMed          Journal:  Arch Fr Pediatr        ISSN： 0003-9764


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  38 in total

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Journal:  Am J Hum Genet       Date:  2011-10-20       Impact factor: 11.025

3.  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
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4.  Can a hand radiograph indicate a special diagnosis in a child with chronic kidney disease? Answers.

Authors:  Eren Soyaltın; Belde Kasap-Demir; Caner Alparslan; Seçil Arslansoyu-Çamlar; Elif Perihan Öncel; Özgür Kırbıyık; Demet Alaygut; Önder Yavaşcan; Gamze Türe; Fatma Mutlubaş
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Review 5.  Ciliopathies.

Authors:  Daniela A Braun; Friedhelm Hildebrandt
Journal:  Cold Spring Harb Perspect Biol       Date:  2017-03-01       Impact factor: 10.005

6.  Asphyxiating thoracic dysplasia. Clinical, radiological, and pathological information on 10 patients.

Authors:  F Oberklaid; D M Danks; V Mayne; P Campbell
Journal:  Arch Dis Child       Date:  1977-10       Impact factor: 3.791

7.  Familial juvenile nephronophthisis, Jeune's syndrome, and associated disorders.

Authors:  M D Donaldson; A A Warner; R S Trompeter; G B Haycock; C Chantler
Journal:  Arch Dis Child       Date:  1985-05       Impact factor: 3.791

8.  Asphyxiating thoracic dystrophy without respiratory disease: report of two cases of the latent form.

Authors:  K Kozlowski; J Masel
Journal:  Pediatr Radiol       Date:  1976-10-26

9.  Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates.

Authors:  Bassam R Ali; Nadia A Akawi; Faris Chedid; Mahmood Bakir; Moghis Ur Rehman; Aiman Rahmani; Lihadh Al-Gazali
Journal:  BMC Med Genet       Date:  2010-02-25       Impact factor: 2.103

10.  Jeune syndrome: description of 13 cases and a proposal for follow-up protocol.

Authors:  J de Vries; J L Yntema; C E van Die; N Crama; E A M Cornelissen; B C J Hamel
Journal:  Eur J Pediatr       Date:  2009-05-10       Impact factor: 3.183
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