Publications by authors named "Katrina Prescott"

29Publications

Mosaicism in ASXL3-related syndrome: Description of five patients from three families.

Eur J Med Genet 2020 Jun 30;63(6):103925. Epub 2020 Mar 30.

Academic Unit of Child Health, Department of Oncology & Metabolism, University of Sheffield, UK; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, UK.

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http://dx.doi.org/10.1016/j.ejmg.2020.103925DOI Listing
June 2020

Whole Exon Deletion in the GFAP Gene Is a Novel Molecular Mechanism Causing Alexander Disease.

Neuropediatrics 2018 04 18;49(2):118-122. Epub 2017 Dec 18.

Department of Paediatric Neurology, Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom.

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http://dx.doi.org/10.1055/s-0037-1608921DOI Listing
April 2018

A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency.

J Allergy Clin Immunol 2016 Mar 10;137(3):955-7.e8. Epub 2015 Nov 10.

Section of Ophthalmology and Neuroscience, School of Medicine, St James's University Hospital, University of Leeds, Leeds, United Kingdom; School of Dentistry, University of Leeds, Leeds, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2015.08.051DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4775071PMC
March 2016

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.

J Med Genet 2014 Oct 14;51(10):659-68. Epub 2014 Aug 14.

MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.

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http://dx.doi.org/10.1136/jmedgenet-2014-102573DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4173748PMC
October 2014

The face of Ulnar Mammary syndrome?

Eur J Med Genet 2011 May-Jun;54(3):301-5. Epub 2011 Jan 1.

Yorkshire Regional Genetics Centre, Ward 10, Chapel Allerton Hospital, Chapeltown Road, Leeds LS7 9TF, England, UK.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212100015
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http://dx.doi.org/10.1016/j.ejmg.2010.12.010DOI Listing
September 2011

Focal segmental glomerulosclerosis in a female patient with Donnai-Barrow syndrome.

Clin Dysmorphol 2010 Jan;19(1):35-7

St. James's University Hospital, Leeds LS9 7TF, UK.

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http://dx.doi.org/10.1097/MCD.0b013e328333c20aDOI Listing
January 2010

Genetic aspects of birth defects: new understandings of old problems.

Arch Dis Child Fetal Neonatal Ed 2007 Jul;92(4):F308-14

Department of Clinical Genetics, Churchill Hospital, Oxford, UK.

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http://dx.doi.org/10.1136/adc.2004.062968DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2675440PMC
July 2007

Cystic fibrosis and Russell-Silver syndrome in a child with maternal isodisomy of chromosome 7.

Pediatr Pulmonol 2005 Aug;40(2):166-8

Department of Respiratory Medicine, Great Ormond Street Hospital, London, UK.

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http://dx.doi.org/10.1002/ppul.20254DOI Listing
August 2005

Microarray analysis of the Df1 mouse model of the 22q11 deletion syndrome.

Hum Genet 2005 May 19;116(6):486-96. Epub 2005 Mar 19.

Molecular Medicine Unit, Institute of Child Health, 30 Guilford St., London, WC1N 1EH, UK.

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http://dx.doi.org/10.1007/s00439-005-1274-3DOI Listing
May 2005