Literature DB >> 28741273

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

Eren Soyaltın1, Belde Kasap-Demir2,3, Caner Alparslan1, Seçil Arslansoyu-Çamlar1, Elif Perihan Öncel4, Özgür Kırbıyık5, Demet Alaygut1, Önder Yavaşcan1, Gamze Türe6, Fatma Mutlubaş1.   

Abstract

Entities:  

Keywords:  Children; Cone-shaped epiphyses; Mainzer–Saldino; Nephronophthisis; Retinitis pigmentosa

Mesh：

Substances：

Year:  2017        PMID： 28741273     DOI： 10.1007/s00467-017-3742-0

Source DB:  PubMed          Journal:  Pediatr Nephrol        ISSN： 0931-041X            Impact factor:   3.714


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  8 in total

1.  [Asphyxiating thoracic dystrophy with familial characteristics].

Authors:  M JEUNE; C BERAUD; R CARRON
Journal:  Arch Fr Pediatr       Date:  1955

2.  Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.

Authors:  Isabelle Perrault; Sophie Saunier; Sylvain Hanein; Emilie Filhol; Albane A Bizet; Felicity Collins; Mustafa A M Salih; Sylvie Gerber; Nathalie Delphin; Karine Bigot; Christophe Orssaud; Eduardo Silva; Véronique Baudouin; Machteld M Oud; Nora Shannon; Martine Le Merrer; Olivier Roche; Christine Pietrement; Jamal Goumid; Clarisse Baumann; Christine Bole-Feysot; Patrick Nitschke; Mohammed Zahrate; Philip Beales; Heleen H Arts; Arnold Munnich; Josseline Kaplan; Corinne Antignac; Valérie Cormier-Daire; Jean-Michel Rozet
Journal:  Am J Hum Genet       Date:  2012-04-12       Impact factor: 11.025

3.  Conorenal dysplasia: a syndrome of cone-shaped epiphysis, renal disease in childhood, retinitis pigmentosa and abnormality of the proximal femur.

Authors:  Rodney K Beals; Richard G Weleber
Journal:  Am J Med Genet A       Date:  2007-10-15       Impact factor: 2.802

4.  Phalangeal cone shaped epiphysis of the hands (PhCSEH) and chronic renal disease--the conorenal syndromes.

Authors:  A Giedion
Journal:  Pediatr Radiol       Date:  1979-02-26

5.  Cone-shaped epiphyses (CSE) in siblings with hereditary renal disease and retinitis pigmentosa.

Authors:  R M Saldino; F Mainzer
Journal:  Radiology       Date:  1971-01       Impact factor: 11.105

6.  Familial nephropathy associatdd with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities.

Authors:  F Mainzer; R M Saldino; M B Ozonoff; H Minagi
Journal:  Am J Med       Date:  1970-10       Impact factor: 4.965

7.  Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.

Authors:  Jan Halbritter; Albane A Bizet; Miriam Schmidts; Jonathan D Porath; Daniela A Braun; Heon Yung Gee; Aideen M McInerney-Leo; Pauline Krug; Emilie Filhol; Erica E Davis; Rannar Airik; Peter G Czarnecki; Anna M Lehman; Peter Trnka; Patrick Nitschké; Christine Bole-Feysot; Markus Schueler; Bertrand Knebelmann; Stéphane Burtey; Attila J Szabó; Kálmán Tory; Paul J Leo; Brooke Gardiner; Fiona A McKenzie; Andreas Zankl; Matthew A Brown; Jane L Hartley; Eamonn R Maher; Chunmei Li; Michel R Leroux; Peter J Scambler; Shing H Zhan; Steven J Jones; Hülya Kayserili; Beyhan Tuysuz; Khemchand N Moorani; Alexandru Constantinescu; Ian D Krantz; Bernard S Kaplan; Jagesh V Shah; Toby W Hurd; Dan Doherty; Nicholas Katsanis; Emma L Duncan; Edgar A Otto; Philip L Beales; Hannah M Mitchison; Sophie Saunier; Friedhelm Hildebrandt
Journal:  Am J Hum Genet       Date:  2013-10-17       Impact factor: 11.025

8.  Characterization of mouse IFT complex B.

Authors:  John A Follit; Fenghui Xu; Brian T Keady; Gregory J Pazour
Journal:  Cell Motil Cytoskeleton       Date:  2009-08
  8 in total

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