Publications by authors named "Kathleen Williamson"

61Publications

The genetic architecture of aniridia and Gillespie syndrome.

Hum Genet 2019 Sep 22;138(8-9):881-898. Epub 2018 Sep 22.

MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, The University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh, EH4 2XU, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00439-018-1934-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6710220PMC
September 2019

Students' Perception of Technology Use in Nursing Education.

Comput Inform Nurs 2018 Feb;36(2):70-76

Author Affiliation: Wilson School of Nursing, Midwestern State University, Wichita Falls, TX.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/CIN.0000000000000396DOI Listing
February 2018

Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Nat Genet 2017 05;49(6):969

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ng0617-969cDOI Listing
May 2017

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Nat Genet 2017 Feb 9;49(2):238-248. Epub 2017 Jan 9.

Molecular Neurogenetics Unit and Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ng.3743DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5473428PMC
February 2017

Status dystonicus in two patients with SOX2-anophthalmia syndrome and nonsense mutations.

Am J Med Genet A 2016 Nov 18;170(11):3048-3050. Epub 2016 Jul 18.

Department of Neurology and Clinical Neurophysiology, Temple Street Children's University Hospital, Dublin 1, Ireland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37849DOI Listing
November 2016

Utilization of evidence-based practice knowledge, attitude, and skill of clinical nurses in the planning of professional development programming.

J Nurses Prof Dev 2015 Mar-Apr;31(2):73-80

Kathleen M. Williamson, PhD, MSN, RN, is Chair and Associate Professor, Wilson School of Nursing at Midwestern State University, Wichita Falls, Texas. Mohammed AlMaskari, MSN, RN, is Graduate Student, Widener University, Chester, Pennsylvania. Zanet Lester, MSHA, BSN, RN, is Independent Consultant. Previously: CKHS Director of Nursing, Excellence, West Chester, Pennsylvania. Deborah Maguire, BSN, RN, PCCN, is Staff Nurse and Co-chair of CKHS EBP and Research Council, Drexel Hill, Pennsylvania.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/NND.0000000000000140DOI Listing
April 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.

View Article

Download full-text PDF

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

The evidence-based practice profiles of academic and clinical staff involved in pre-registration nursing students' education: a cross sectional survey of US and UK staff.

Nurse Educ Today 2015 Jan 28;35(1):80-5. Epub 2014 Jun 28.

Faculty of Health, University of Canberra University of Canberra, University Dr, Bruce, ACT 2617, Australia. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nedt.2014.06.006DOI Listing
January 2015

Expansion of ocular phenotypic features associated with mutations in ADAMTS18.

JAMA Ophthalmol 2014 Aug;132(8):996-1001

University College London Institute of Ophthalmology, London, England3Professorial Unit, Moorfields Eye Hospital, London, England6Clinical and Academic Department of Ophthalmology, Great Ormond Street Hospital for Children, London, England.

View Article

Download full-text PDF

Source
http://www.uk10k.org/assets/24874986.pdf
Web Search
http://archopht.jamanetwork.com/article.aspx?doi=10.1001/jam
Publisher Site
http://dx.doi.org/10.1001/jamaophthalmol.2014.940DOI Listing
August 2014

The genetic architecture of microphthalmia, anophthalmia and coloboma.

Eur J Med Genet 2014 Aug 22;57(8):369-80. Epub 2014 May 22.

Medical Research Council Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2014.05.002DOI Listing
August 2014

Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center.

Mol Genet Genomic Med 2013 May 27;1(1):15-31. Epub 2013 Mar 27.

MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine at the University of Edinburgh, Western General Hospital Edinburgh, EH4 2XU, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mgg3.2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3893155PMC
May 2013

Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects.

Am J Hum Genet 2014 Feb 23;94(2):295-302. Epub 2014 Jan 23.

Medical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2014.01.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3928658PMC
February 2014

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Hum Mol Genet 2014 Jun 8;23(11):2888-900. Epub 2014 Jan 8.

Sektion für Funktionelle Genetik am Institut für Humangenetik, Universität zu Lübeck, Lübeck 23538, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddu002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014191PMC
June 2014

Diabetes: follow-up support for patients with uncontrolled diabetes.

Nurse Pract 2013 Apr;38(4):49-53

Widener University in Chester, PA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/01.NPR.0000427609.76270.93DOI Listing
April 2013

Following the evidence: planning for sustainable change.

Am J Nurs 2011 Jan;111(1):54-60

Center for the Advancement of Evidence-Based Practice (CAEP) at Arizona State University in Phoenix, Arizona, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/01.NAJ.0000393062.83761.c0DOI Listing
January 2011

Feasibility of creating a normative database of colour Doppler imaging parameters in glaucomatous eyes and controls.

Br J Ophthalmol 2011 Sep 24;95(9):1193-8. Epub 2010 Nov 24.

Letzter Professor of Ophthalmology, Professor of Physiology and Biophysics, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/bjo.2010.188219DOI Listing
September 2011

Evidence-based practice, step by step: Critical appraisal of the evidence: part III.

Am J Nurs 2010 Nov;110(11):43-51

Center for Advancement of Evidence-Based Practice at Arizona State University in Phoenix, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/01.NAJ.0000390523.99066.b5DOI Listing
November 2010

Evidence-based practice, step by step: critical appraisal of the evidence: part II: digging deeper--examining the "keeper" studies.

Am J Nurs 2010 Sep;110(9):41-8

Center for Advancement of Evidence-Based Practice at Arizona State University in Phoenix, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/01.NAJ.0000388264.49427.f9DOI Listing
September 2010

Outcome measurement matters.

Nurs Manage 2010 Aug;41(8):13-6

Arizona State University, Phoenix, AZ, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/01.NUMA.0000384005.91287.e0DOI Listing
August 2010

Evidence-based practice step by step: Critical appraisal of the evidence: part I.

Am J Nurs 2010 Jul;110(7):47-52

Center for the Advancement of Evidence-Based Practice, Arizona State University, Phoenix, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/01.NAJ.0000383935.22721.9cDOI Listing
July 2010

Evidence-based practice, step by step: searching for the evidence.

Am J Nurs 2010 May;110(5):41-7

Nurse Educator Evidence-Based Practice Mentorship Program at Arizona State University in Phoenix, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/01.NAJ.0000372071.24134.7eDOI Listing
May 2010

Update and critical appraisal of combined timolol and carbonic anhydrase inhibitors and the effect on ocular blood flow in glaucoma patients.

Clin Ophthalmol 2010 Apr 26;4:233-41. Epub 2010 Apr 26.

Department of Ophthalmology, Indiana University School of Medicine, Indianapolis, Indiana, USA.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2861928PMC
http://dx.doi.org/10.2147/opth.s6372DOI Listing
April 2010

Novel in vitro assays for the characterization of EMT in tumourigenesis.

Cell Oncol 2010 ;32(1-2):67-76

Uro-oncology Research Group, Centre for Cancer Research & Cell Biology, Queen's University Belfast, Belfast, Northern Ireland, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3233/CLO-2009-0501DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4619245PMC
June 2010

Evidence-based practice, step by step: asking the clinical question: a key step in evidence-based practice.

Am J Nurs 2010 Mar;110(3):58-61

Nurse Educator Evidence-Based Practice Mentorship Program at Arizona State University in Phoenix, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/01.NAJ.0000368959.11129.79DOI Listing
March 2010

Malformations of the brain in two fetuses with a compound heterozygosity for two PAX6 mutations.

Folia Neuropathol 2009 ;47(4):372-82

Department of Neuropathology, Institute of Psychiatry and Neurology, 9 Sobieskiego, 02-957 Warsaw, Poland.

View Article

Download full-text PDF

Source
March 2010

Strategies for translating knowledge into practice.

Worldviews Evid Based Nurs 2009 21;6(4):246-9. Epub 2009 Oct 21.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1741-6787.2009.00174.xDOI Listing
March 2010

Evidence-based practice: critical appraisal of qualitative evidence.

J Am Psychiatr Nurses Assoc 2009 Jun;15(3):202-7

Center for the Advancement of Evidence-Based Practice, Arizona State University, College of Nursing & Healthcare Innovation, Phoenix, Arizona,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/1078390309338733DOI Listing
June 2009

Detailed ophthalmologic evaluation of 43 individuals with PAX6 mutations.

Invest Ophthalmol Vis Sci 2009 Jun 14;50(6):2581-90. Epub 2009 Feb 14.

Moorfields Eye Hospital, London, United Kingdom.

View Article

Download full-text PDF

Source
http://iovs.arvojournals.org/article.aspx?doi=10.1167/iovs.0
Publisher Site
http://dx.doi.org/10.1167/iovs.08-2827DOI Listing
June 2009

Association of seedling myomas with myometrial hyperplasia.

Hum Pathol 2009 Feb 16;40(2):218-25. Epub 2008 Sep 16.

Department of Pathology, Rochester General Hospital, University of Rochester School of Medicine, Rochester, NY 14621, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.humpath.2008.07.004DOI Listing
February 2009

Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia.

Am J Med Genet A 2008 Mar;146A(5):558-69

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32209DOI Listing
March 2008

Home health care nurses' perceptions of empowerment.

J Community Health Nurs 2007 ;24(3):133-53

College of Nursing, Florida State University, Tallahassee, FL 32306-4310, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/07370010701429512DOI Listing
October 2007

Auditory interhemispheric transfer deficits, hearing difficulties, and brain magnetic resonance imaging abnormalities in children with congenital aniridia due to PAX6 mutations.

Arch Pediatr Adolesc Med 2007 May;161(5):463-9

Academic Unit of Audiological Medicine, Institute of Child Health, Department of Clinical and Experimental Epilepsy, and Division of Inherited Eye Disease, and Moorfields Eye Hospital, University College London, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/archpedi.161.5.463DOI Listing
May 2007

De novo double mutation in PAX6 and mtDNA tRNA(Lys) associated with atypical aniridia and mitochondrial disease.

J Mol Med (Berl) 2007 Feb 10;85(2):163-8. Epub 2006 Oct 10.

Department of Biology, Chemistry and Pharmacy, Free University Berlin, Berlin, Germany.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s00109-006-0112-y
Publisher Site
http://dx.doi.org/10.1007/s00109-006-0112-yDOI Listing
February 2007

Role of SOX2 mutations in human hippocampal malformations and epilepsy.

Epilepsia 2006 Mar;47(3):534-42

Department of Clinical and Experimental Epilepsy, Institute of Neurology, UCL, London, and National Society for Epilepsy, Bucks SL90RJ, London, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1528-1167.2006.00464.xDOI Listing
March 2006

Absence of SIX6 mutations in microphthalmia, anophthalmia, and coloboma.

Invest Ophthalmol Vis Sci 2004 Nov;45(11):3871-6

Institute of Ophthalmology, University College London, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1167/iovs.04-0641DOI Listing
November 2004

Randomized, double-blinded trial of low-dose dexamethasone: II. Functional residual capacity and pulmonary outcome in very low birth weight infants at risk for bronchopulmonary dysplasia.

Pediatr Pulmonol 2004 Jul;38(1):55-63

Division of Neonatal-Perinatal Medicine, Department of Pediatrics, University of Florida, Sacred Heart Hospital, Pensacola, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ppul.20037DOI Listing
July 2004

Quantitative MR image analysis in subjects with defects in the PAX6 gene.

Neuroimage 2003 Dec;20(4):2281-90

Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, Queen Square, London WCIN 3BG, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.neuroimage.2003.07.001DOI Listing
December 2003

Polymicrogyria and absence of pineal gland due to PAX6 mutation.

Ann Neurol 2003 May;53(5):658-63

Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, London.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ana.10576DOI Listing
May 2003

PAX6 in sensory development.

Hum Mol Genet 2002 May;11(10):1161-7

MRC Human Genetics Unit, Western General Hospital, Edinburgh EH4 2XU, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/11.10.1161DOI Listing
May 2002