Publications by authors named "Carole McKeown"

11Publications

Mosaic trisomy 1q: The longest surviving case.

Am J Med Genet A 2009 Aug;149A(8):1795-800

Department of Clinical Genetics, Birmingham Women's Hospital NHS Foundation Trust, UK.

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http://dx.doi.org/10.1002/ajmg.a.32959DOI Listing
August 2009

PMS2 mutations in childhood cancer.

J Natl Cancer Inst 2006 Mar;98(5):358-61

University of Leeds, Yorkshire Regional Genetics Service, United Kingdom.

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http://dx.doi.org/10.1093/jnci/djj073DOI Listing
March 2006

A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8).

Am J Hum Genet 2006 Jan 28;78(1):160-6. Epub 2005 Nov 28.

Section of Medical and Molecular Genetics, Division of Medical Sciences, Institute of Biomedical Research, University of Birmingham, United Kingdom.

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http://dx.doi.org/10.1086/499338DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1380215PMC
January 2006

An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function.

Development 2003 Apr;130(8):1701-12

Department of Molecular Biology and Functional Genomics, DIBIT-H San Raffaele, Via Olgettina 58, 20132 Milano, Italy.

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http://dx.doi.org/10.1242/dev.00396DOI Listing
April 2003