Publications by authors named "Lisa Ewans"

12Publications

A deep intronic SMARCB1 variant associated with schwannomatosis.

Clin Genet 2020 02 9;97(2):376-377. Epub 2019 Sep 9.

NW Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/cge.13637DOI Listing
February 2020

Silver Russel syndrome in an aboriginal patient from Australia.

Am J Med Genet A 2018 12 27;176(12):2561-2563. Epub 2018 Aug 27.

Genetic Services of Western Australia, Subiaco, Western Australia, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.40502DOI Listing
December 2018

Painful ovulation in a 46,XX SRY -ve adult male with duplication.

Endocrinol Diabetes Metab Case Rep 2017 7;2017. Epub 2017 Jun 7.

ANZAC Research Institute, University of Sydney, Sydney, New South WalesAustralia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1530/EDM-17-0045DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5467653PMC
June 2017

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.

Genome Biol 2016 11 29;17(1):243. Epub 2016 Nov 29.

Murdoch Childrens Research Institute, Melbourne, VIC, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13059-016-1105-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5126855PMC
November 2016

Losartan therapy for cardiac disease in paediatricMarfan syndrome.

J Paediatr Child Health 2015 Sep;51(9):927-31

Clinical Genetics, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/jpc.12823DOI Listing
September 2015

Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: six new patients.

Am J Med Genet A 2015 Mar 8;167A(3):504-11. Epub 2015 Jan 8.

Unité de Génétique Médicale et Oncogénétique, Centre Hospitalier Universitaire Amiens Picardie, Amiens, France; Laboratoire de Cytogénétique et Biologie de la Reproduction, Centre Hospitalier Universitaire Amiens Picardie, Amiens, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36882DOI Listing
March 2015

Upregulation of alpha-synuclein in neurons and glia in inflammatory demyelinating disease.

Mol Cell Neurosci 2006 Apr 28;31(4):597-612. Epub 2006 Feb 28.

Department of Cellular and Molecular Neuroscience, Division of Neuroscience, Imperial College Faculty of Medicine, Charing Cross Hospital Campus, Fulham Palace Road, London W6 8RF, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.mcn.2006.01.007DOI Listing
April 2006