Susan M Gribble

Susan M Gribble

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Susan M Gribble

Susan M Gribble

Publications by authors named "Susan M Gribble"

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14Publications

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UBE2QL1 is disrupted by a constitutional translocation associated with renal tumor predisposition and is a novel candidate renal tumor suppressor gene.

Hum Mutat 2013 Dec 7;34(12):1650-61. Epub 2013 Oct 7.

Centre for Rare Diseases and Personalised Medicine, School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.

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http://dx.doi.org/10.1002/humu.22433DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4028990PMC
December 2013

A familial case with interstitial 2q36 deletion: variable phenotypic expression in full and mosaic state.

Eur J Med Genet 2012 Nov 20;55(11):660-5. Epub 2012 Jul 20.

Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas, Rua Tessália Vieira de Camargo, 126 CEP 13083-887 Campinas, São Paulo, Brazil.

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http://dx.doi.org/10.1016/j.ejmg.2012.06.015DOI Listing
November 2012

Array painting: a protocol for the rapid analysis of aberrant chromosomes using DNA microarrays.

Nat Protoc 2009 5;4(12):1722-36. Epub 2009 Nov 5.

Human Genetics, Sulston Laboratories, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.

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http://dx.doi.org/10.1038/nprot.2009.183DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3330750PMC
February 2010

Finishing the finished human chromosome 22 sequence.

Genome Biol 2008 13;9(5):R78. Epub 2008 May 13.

The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK.

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http://dx.doi.org/10.1186/gb-2008-9-5-r78DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2441464PMC
July 2008

Micro-array analyses decipher exceptional complex familial chromosomal rearrangement.

Hum Genet 2006 Mar 3;119(1-2):145-53. Epub 2006 Jan 3.

Institut für Humangenetik, Technische Universität München, Trogerstr. 32, 81675 München, Germany.

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http://link.springer.com/10.1007/s00439-005-0103-z
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http://dx.doi.org/10.1007/s00439-005-0103-zDOI Listing
March 2006

Molecular cytogenetic analyses of breakpoints in apparently balanced reciprocal translocations carried by phenotypically normal individuals.

Eur J Hum Genet 2005 Nov;13(11):1205-12

Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, UK.

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http://dx.doi.org/10.1038/sj.ejhg.5201488DOI Listing
November 2005

Genomic imbalances in CML blast crisis: 8q24.12-q24.13 segment identified as a common region of over-representation.

Genes Chromosomes Cancer 2003 Aug;37(4):346-58

Department of Haematology, University of Cambridge, Cambridge, United Kingdom.

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http://dx.doi.org/10.1002/gcc.10173DOI Listing
August 2003