Literature DB >> 629676

Retinal involvement in thoracic-pelvic-phalangeal dystrophy.

L A Bard, P A Bard, G W Owens, B D Hall.   

Abstract

A patient with typical thoracic-pelvic-phalangeal dystrophy has survived to the age of 11 years with no pulmonary problem except a single episode of pneumonia at the age of 5 years. She has no evidence of renal disease. An associated ocular lesion resembled Leber's congenital amaurosis clinically but was different on electrophysiologic testing.

Entities:  

Mesh：

Year:  1978        PMID： 629676     DOI： 10.1001/archopht.1978.03910050146008

Source DB:  PubMed          Journal:  Arch Ophthalmol        ISSN： 0003-9950


  5 in total

1.  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

2.  Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects.

Authors:  Konstantinos Nikopoulos; Pietro Farinelli; Basilio Giangreco; Chrysanthi Tsika; Beryl Royer-Bertrand; Martial K Mbefo; Nicola Bedoni; Ulrika Kjellström; Ikram El Zaoui; Silvio Alessandro Di Gioia; Sara Balzano; Katarina Cisarova; Andrea Messina; Sarah Decembrini; Sotiris Plainis; Styliani V Blazaki; Muhammad Imran Khan; Shazia Micheal; Karsten Boldt; Marius Ueffing; Alexandre P Moulin; Frans P M Cremers; Ronald Roepman; Yvan Arsenijevic; Miltiadis K Tsilimbaris; Sten Andréasson; Carlo Rivolta
Journal:  Am J Hum Genet       Date:  2016-09-01       Impact factor: 11.025

3.  Mutations in human IFT140 cause non-syndromic retinal degeneration.

Authors:  Mingchu Xu; Lizhu Yang; Feng Wang; Huajin Li; Xia Wang; Weichen Wang; Zhongqi Ge; Keqing Wang; Li Zhao; Hui Li; Yumei Li; Ruifang Sui; Rui Chen
Journal:  Hum Genet       Date:  2015-07-28       Impact factor: 4.132

4.  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

5.  Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.

Authors:  Miriam Schmidts; Heleen H Arts; Ernie M H F Bongers; Zhimin Yap; Machteld M Oud; Dinu Antony; Lonneke Duijkers; Richard D Emes; Jim Stalker; Jan-Bart L Yntema; Vincent Plagnol; Alexander Hoischen; Christian Gilissen; Elisabeth Forsythe; Ekkehart Lausch; Joris A Veltman; Nel Roeleveld; Andrea Superti-Furga; Anna Kutkowska-Kazmierczak; Erik-Jan Kamsteeg; Nursel Elçioğlu; Merel C van Maarle; Luitgard M Graul-Neumann; Koenraad Devriendt; Sarah F Smithson; Diana Wellesley; Nienke E Verbeek; Raoul C M Hennekam; Hulya Kayserili; Peter J Scambler; Philip L Beales; Nine Vam Knoers; Ronald Roepman; Hannah M Mitchison
Journal:  J Med Genet       Date:  2013-03-01       Impact factor: 5.941
  5 in total

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