Literature DB >> 17853467

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

Rodney K Beals1, Richard G Weleber.   

Abstract

Conorenal dysplasia is a rare syndrome which includes cone shaped epiphysis, renal disease in childhood, retinitis pigmentosa and abnormality of the proximal physis and metaphysis of the femur. A long term followup of one patient is presented along with a review of the reported cases. Copyright (c) 2007 Wiley-Liss, Inc.

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Year:  2007        PMID: 17853467     DOI: 10.1002/ajmg.a.31948

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  5 in total

1.  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

2.  Patient-iPSC-Derived Kidney Organoids Show Functional Validation of a Ciliopathic Renal Phenotype and Reveal Underlying Pathogenetic Mechanisms.

Authors:  Thomas A Forbes; Sara E Howden; Kynan Lawlor; Belinda Phipson; Jovana Maksimovic; Lorna Hale; Sean Wilson; Catherine Quinlan; Gladys Ho; Katherine Holman; Bruce Bennetts; Joanna Crawford; Peter Trnka; Alicia Oshlack; Chirag Patel; Andrew Mallett; Cas Simons; Melissa H Little
Journal:  Am J Hum Genet       Date:  2018-04-26       Impact factor: 11.025

3.  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
Journal:  Pediatr Nephrol       Date:  2017-07-24       Impact factor: 3.714

4.  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

Review 5.  Using Paramecium as a Model for Ciliopathies.

Authors:  Megan Valentine; Judith Van Houten
Journal:  Genes (Basel)       Date:  2021-09-24       Impact factor: 4.096

  5 in total

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