青少年肾单位肾痨的磁共振成像——疑似Joubert综合征病例？ - Suppr

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Juvenile nephronophthisis on MRI--a potential case of Joubert syndrome?

作者信息

Simms Roslyn J, Sayer John A

出版信息

Pediatr Radiol. 2010 Sep;40(9):1581; author reply 1582. doi: 10.1007/s00247-010-1707-6. Epub 2010 May 21.

DOI:10.1007/s00247-010-1707-6

PMID:20490483

Abstract

摘要

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Juvenile nephronophthisis on MRI--a potential case of Joubert syndrome?

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本文引用的文献

End-stage juvenile nephronophthisis on MRI.

Pediatr Radiol. 2010 Dec;40 Suppl 1:S12. doi: 10.1007/s00247-009-1535-8. Epub 2010 Feb 25.

Nephronophthisis.

Eur J Hum Genet. 2009 Apr;17(4):406-16. doi: 10.1038/ejhg.2008.238. Epub 2008 Dec 10.

Demography and management of childhood established renal failure in the UK (chapter 13).

Nephrol Dial Transplant. 2007 Aug;22 Suppl 7:vii165-75. doi: 10.1093/ndt/gfm336.

Nephronophthisis-associated ciliopathies.

J Am Soc Nephrol. 2007 Jun;18(6):1855-71. doi: 10.1681/ASN.2006121344. Epub 2007 May 18.

Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation.

Am J Hum Genet. 2003 Sep;73(3):663-70. doi: 10.1086/378241. Epub 2003 Aug 7.

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相似文献

Juvenile nephronophthisis on MRI--a potential case of Joubert syndrome?

Pediatr Radiol. 2010 Sep;40(9):1581; author reply 1582. doi: 10.1007/s00247-010-1707-6. Epub 2010 May 21.

Clinical utility gene card for: Joubert syndrome.

Eur J Hum Genet. 2011 Sep;19(9). doi: 10.1038/ejhg.2011.49. Epub 2011 Mar 30.

Congenital ocular motor apraxia, the NPHP1 gene, and surveillance for nephronophthisis.

J AAPOS. 2013 Jun;17(3):332-3. doi: 10.1016/j.jaapos.2013.02.003. Epub 2013 May 16.

Clinical utility gene card for: Joubert syndrome--update 2013.

Eur J Hum Genet. 2013 Oct;21(10). doi: 10.1038/ejhg.2013.10. Epub 2013 Feb 13.

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BMJ Case Rep. 2010 Nov 5;2010:bcr0520103037. doi: 10.1136/bcr.05.2010.3037.

Joubert syndrome and related disorders.

Neurol Neurochir Pol. 2012 Jul-Aug;46(4):379-83. doi: 10.5114/ninp.2012.30457.

Joubert syndrome labeled as hypotonic cerebral palsy.

Neurosciences (Riyadh). 2014 Jul;19(3):233-5.

Congenital ocular motor apraxia with wheel-rolling ocular torsion-a neurodiagnostic phenotype of Joubert syndrome.

J AAPOS. 2014 Aug;18(4):404-7. doi: 10.1016/j.jaapos.2014.03.006.

Molar tooth sign is not pathognomonic for Joubert syndrome.

Pediatr Neurol. 2013 Dec;49(6):515-6. doi: 10.1016/j.pediatrneurol.2013.08.013. Epub 2013 Oct 10.

[Strabismus, nystagmus, and generalized hypotonia in a 7-month-old child].

Arch Pediatr. 2012 Jan;19(1):62-3, 74-6. doi: 10.1016/j.arcped.2011.10.014. Epub 2011 Nov 29.

本文引用的文献

End-stage juvenile nephronophthisis on MRI.

Pediatr Radiol. 2010 Dec;40 Suppl 1:S12. doi: 10.1007/s00247-009-1535-8. Epub 2010 Feb 25.

Nephronophthisis.

Eur J Hum Genet. 2009 Apr;17(4):406-16. doi: 10.1038/ejhg.2008.238. Epub 2008 Dec 10.

Demography and management of childhood established renal failure in the UK (chapter 13).

Nephrol Dial Transplant. 2007 Aug;22 Suppl 7:vii165-75. doi: 10.1093/ndt/gfm336.

Nephronophthisis-associated ciliopathies.

J Am Soc Nephrol. 2007 Jun;18(6):1855-71. doi: 10.1681/ASN.2006121344. Epub 2007 May 18.

Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation.

Am J Hum Genet. 2003 Sep;73(3):663-70. doi: 10.1086/378241. Epub 2003 Aug 7.