Literature DB >> 27718088

When is biopsy-proven TIN not simply TIN? Answers.

Nicholas Ware1, Neil J Sebire2, W K Chong2, Rajesh Krishnan3, Stephen D Marks2.   

Abstract

Entities:  

Keywords:  Joubert syndrome; Kidney; Nephritis; Nephronophthisis; Paediatric; Tubulointerstitial

Mesh：

Year:  2016        PMID： 27718088     DOI： 10.1007/s00467-016-3478-2

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


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  23 in total

Review 1.  Congenital diseases of intrahepatic bile ducts: variations on the theme "ductal plate malformation".

Authors:  V J Desmet
Journal:  Hepatology       Date:  1992-10       Impact factor: 17.425

2.  Nephronophthisis.

Authors:  Roslyn J Simms; Lorraine Eley; John A Sayer
Journal:  Eur J Hum Genet       Date:  2008-12-10       Impact factor: 4.246

3.  Molar tooth sign is not pathognomonic for Joubert syndrome.

Authors:  Mehmet Alp Dirik; Uluç Yiş; Eray Dirik
Journal:  Pediatr Neurol       Date:  2013-10-10       Impact factor: 3.372

Review 4.  Ocular coloboma: a reassessment in the age of molecular neuroscience.

Authors:  C Y Gregory-Evans; M J Williams; S Halford; K Gregory-Evans
Journal:  J Med Genet       Date:  2004-12       Impact factor: 6.318

5.  Erratum: Mutation spectrum of Joubert syndrome and related disorders among Arabs.

Authors:  Salma Ben-Salem; Aisha M Al-Shamsi; Joseph G Gleeson; Bassam R Ali; Lihadh Al-Gazali
Journal:  Hum Genome Var       Date:  2015-03-26

6.  Oromotor and communication findings in joubert syndrome: further evidence of multisystem apraxia.

Authors:  Barbara A Braddock; Janet E Farmer; Kathleen M Deidrick; Jana M Iverson; Bernard L Maria
Journal:  J Child Neurol       Date:  2006-02       Impact factor: 1.987

7.  Analysis and classification of cerebellar malformations.

Authors:  Sandeep Patel; A James Barkovich
Journal:  AJNR Am J Neuroradiol       Date:  2002-08       Impact factor: 3.825

Review 8.  Joubert syndrome: insights into brain development, cilium biology, and complex disease.

Authors:  Dan Doherty
Journal:  Semin Pediatr Neurol       Date:  2009-09       Impact factor: 1.636

Review 9.  Nephronophthisis-associated ciliopathies.

Authors:  Friedhelm Hildebrandt; Weibin Zhou
Journal:  J Am Soc Nephrol       Date:  2007-05-18       Impact factor: 10.121

10.  OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.

Authors:  Karlien L M Coene; Ronald Roepman; Dan Doherty; Bushra Afroze; Hester Y Kroes; Stef J F Letteboer; Lock H Ngu; Bartlomiej Budny; Erwin van Wijk; Nicholas T Gorden; Malika Azhimi; Christel Thauvin-Robinet; Joris A Veltman; Mireille Boink; Tjitske Kleefstra; Frans P M Cremers; Hans van Bokhoven; Arjan P M de Brouwer
Journal:  Am J Hum Genet       Date:  2009-10       Impact factor: 11.025
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