Publications by authors named "Karen Low"

23Publications

Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome.

Front Neurol 2020 24;11:631. Epub 2020 Jul 24.

Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy.

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http://dx.doi.org/10.3389/fneur.2020.00631DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7393934PMC
July 2020

A novel PIGA variant associated with severe X-linked epilepsy and profound developmental delay.

Seizure 2018 03 31;56:1-3. Epub 2018 Jan 31.

Department of Clinical Genetics, St. Michaels Hospital, Bristol, UK; School of Clinical Sciences, University of Bristol, Bristol, UK. Electronic address:

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http://dx.doi.org/10.1016/j.seizure.2018.01.013DOI Listing
March 2018

Electrospun thermosensitive hydrogel scaffold for enhanced chondrogenesis of human mesenchymal stem cells.

Acta Biomater 2018 01 8;66:166-176. Epub 2017 Nov 8.

Department of Bioengineering, University of California, Riverside, CA, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17427061173070
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http://dx.doi.org/10.1016/j.actbio.2017.11.020DOI Listing
January 2018

A splice-site variant in ANKRD11 associated with classical KBG syndrome.

Am J Med Genet A 2017 Oct 17;173(10):2844-2846. Epub 2017 Aug 17.

University Hospitals Bristol NHS Trust, Bristol, England.

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http://dx.doi.org/10.1002/ajmg.a.38397DOI Listing
October 2017

Physico-electrochemical Characterization of Pluripotent Stem Cells during Self-Renewal or Differentiation by a Multi-modal Monitoring System.

Stem Cell Reports 2017 05 27;8(5):1329-1339. Epub 2017 Apr 27.

Department of Bioengineering, University of California-Riverside, Materials Science & Engineering Building 331, 900 University Avenue, Riverside, CA 92521, USA. Electronic address:

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http://dx.doi.org/10.1016/j.stemcr.2017.03.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5425683PMC
May 2017

Rare XXY/XX mosaicism in a phenotypic male presenting as cystic hygroma in the first trimester.

Clin Dysmorphol 2017 Apr;26(2):107-109

Departments of aClinical Genetics bPaediatric Endocrinology cFetal Medicine, University Hospitals Bristol NHS Trust dDepartment of Fetal Medicine eCytogenetics Department, Bristol Genetics Laboratory, Southmead Hospital, North Bristol NHS Trust, Bristol, UK.

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http://dx.doi.org/10.1097/MCD.0000000000000150DOI Listing
April 2017

Enhanced Lineage-Specific Differentiation Efficiency of Human Induced Pluripotent Stem Cells by Engineering Colony Dimensionality Using Electrospun Scaffolds.

Adv Healthc Mater 2016 06 17;5(12):1408-12. Epub 2016 May 17.

Department of Bioengineering, University of California-Riverside, Materials Science & Engineering Building 331, 900 University Avenue, Riverside, CA, 92521, USA.

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http://doi.wiley.com/10.1002/adhm.201600141
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http://dx.doi.org/10.1002/adhm.201600141DOI Listing
June 2016

The effects of electrospun substrate-mediated cell colony morphology on the self-renewal of human induced pluripotent stem cells.

Biomaterials 2015 May 14;50:10-9. Epub 2015 Feb 14.

Department of Bioengineering, University of California-Riverside, CA 92521, USA. Electronic address:

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http://dx.doi.org/10.1016/j.biomaterials.2015.01.037DOI Listing
May 2015

Tetralogy of Fallot, microcephaly, short stature and brachymesophalangy is associated with hemizygous loss of noncoding MIR17HG and coding GPC5.

Clin Dysmorphol 2015 Jul;24(3):113-4

aClinical Genetics, St Michaels Hospital, Bristol bBristol Genetics Laboratory Pathology Sciences, Southmead Hospital Bristol, UK.

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http://dx.doi.org/10.1097/MCD.0000000000000069DOI Listing
July 2015

Polyaniline/poly(ε-caprolactone) composite electrospun nanofiber-based gas sensors: optimization of sensing properties by dopants and doping concentration.

Nanotechnology 2014 Mar 24;25(11):115501. Epub 2014 Feb 24.

Department of Bioengineering, University of California-Riverside, CA 92521, USA.

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http://dx.doi.org/10.1088/0957-4484/25/11/115501DOI Listing
March 2014

A mother and daughter with a novel phenotype of hand and foot abnormalities and severe pectus excavatum.

Am J Med Genet A 2013 Aug 3;161A(8):2056-9. Epub 2013 Jul 3.

Department of Clinical Genetics, University Hospitals Bristol, Bristol, UK.

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http://dx.doi.org/10.1002/ajmg.a.36016DOI Listing
August 2013

Homozygous nonsense mutation in HOXD13 underlies synpolydactyly with a cleft.

Clin Dysmorphol 2012 Jul;21(3):141-3

Clinical Genetics Department, University Hospitals Bristol NHS Foundation Trust, St Michael's Hospital, Southwell St., Bristol, UK.

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http://dx.doi.org/10.1097/MCD.0b013e32835306f0DOI Listing
July 2012

Dopa responsive dystonia.

BMJ 2010 Mar 4;340:c668. Epub 2010 Mar 4.

c/o Bristol Royal Hospital for Children, Upper Maudlin Street, Bristol BS2 8BJ.

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http://dx.doi.org/10.1136/bmj.c668DOI Listing
March 2010

Real-time protein kinase assay.

Anal Chem 2005 Apr;77(7):2043-9

Applied Biosystems, 850 Lincoln Centre Drive, Foster City, California 94404, USA.

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http://dx.doi.org/10.1021/ac048280eDOI Listing
April 2005