Publications by authors named "Bethan E Hoskins"

20Publications

Mutation analysis of the Uromodulin gene in 96 individuals with urinary tract anomalies (CAKUT).

Pediatr Nephrol 2009 Jan 10;24(1):55-60. Epub 2008 Oct 10.

Department of Pediatrics, University of Michigan, Ann Arbor, MI, USA.

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http://dx.doi.org/10.1007/s00467-008-1016-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3155267PMC
January 2009

Identification of BRAF as a new interactor of PLCepsilon1, the protein mutated in nephrotic syndrome type 3.

Am J Physiol Renal Physiol 2008 Jan 17;294(1):F93-9. Epub 2007 Oct 17.

Department of Pediatrics, University of Michigan Drive, Ann Arbor, MI 48109-5646, USA.

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http://dx.doi.org/10.1152/ajprenal.00345.2007DOI Listing
January 2008

Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse.

Nat Genet 2004 Sep 22;36(9):994-8. Epub 2004 Aug 22.

Howard Hughes Medical Institute and Department of Molecular Biology and Genetics, 533 Broadway Street Building, Johns Hopkins University, 733 N. Broadway, Baltimore, Maryland 21205, USA.

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http://dx.doi.org/10.1038/ng1418DOI Listing
September 2004

The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression.

Nat Genet 2004 May 25;36(5):462-70. Epub 2004 Apr 25.

Department of Molecular Biology and Biochemistry, Simon Fraser University, 8888 University Dr., Burnaby BC, V5A 1S6, Canada.

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http://dx.doi.org/10.1038/ng1352DOI Listing
May 2004

Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique.

Hum Mutat 2003 Aug;22(2):151-7

Molecular Medicine Unit, Institute of Child Health UCL, London, UK.

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http://dx.doi.org/10.1002/humu.10241DOI Listing
August 2003