Henrietta Lefroy
A5090509192- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Protein Tyrosine Phosphatases
- RNA regulation and disease
- Congenital heart defects research
- Cancer-related gene regulation
- BRCA gene mutations in cancer
- Prenatal Screening and Diagnostics
- Soft Robotics and Applications
- Cell Adhesion Molecules Research
- Ethics and Legal Issues in Pediatric Healthcare
- Prion Diseases and Protein Misfolding
- Dermatological and Skeletal Disorders
- Amyotrophic Lateral Sclerosis Research
- Assisted Reproductive Technology and Twin Pregnancy
- Biomedical Ethics and Regulation
- Congenital Ear and Nasal Anomalies
- Parvovirus B19 Infection Studies
- Epigenetics and DNA Methylation
- ATP Synthase and ATPases Research
- Neurological diseases and metabolism
- Proteoglycans and glycosaminoglycans research
- RNA modifications and cancer
- Surgical Simulation and Training
Heavitree Hospital
2022
Royal Devon & Exeter NHS Foundation Trust
2022
Oxford University Hospitals NHS Trust
2015-2021
Center for Genomic Science
2021
University of Oxford
2016-2019
National Health Service
2019
Nuffield Orthopaedic Centre
2017
Churchill Hospital
2016
University Hospital Coventry
2011
PurposeThis study aimed to undertake a multidisciplinary characterization of the phenotype associated with SOX11 variants.MethodsIndividuals protein altering variants in were identified through exome and genome sequencing international data sharing. Deep clinical phenotyping was undertaken by referring clinicians. Blood DNA methylation assessed using Infinium MethylationEPIC array. The expression pattern developing human brain defined RNAscope.ResultsWe reported 38 new patients variants....
1q24q25 deletions cause a distinctive phenotype including proportionate short stature, microcephaly, brachydactyly, dysmorphic facial features and intellectual disability. We present mother son who have 672 kb microdeletion at 1q24q25. They the typical skeletal previously described but do not any associated compare genes within our patients' deletion to those in of reported cases. This indicates two that may be implicated disability usually with this syndrome; PIGC C1orf105 . In addition,...
Brachyolmia is a skeletal dysplasia characterized by short spine-short stature, platyspondyly, and minor long bone abnormalities. We describe 18 patients, from different ethnic backgrounds ages ranging infancy to 19 years, with the autosomal recessive form, associated PAPSS2. The main clinical features include disproportionate stature spine variable symptoms of pain, stiffness, spinal deformity. Eight patients presented prenatally femora, whereas later in childhood their short-spine...
The brachial plexus has posed problems for both students and teachers throughout generations of medical education. anatomy is intricate, traditional pictorial representations can be difficult to understand learn. Few innovative teaching methods have been reported.The basic the core knowledge required by aid clinical examination diagnosis. A more detailed understanding necessary a variety specialists, including surgeons, anaesthetists radiologists.Here, we present novel, cheap interactive...
Introduction Motor neuron disease (MND) and frontotemporal dementia (FTD) comprise a neurodegenerative spectrum. Genetic testing counselling is complex in MND/FTD owing to incomplete penetrance, variable phenotype variants of uncertain significance. Affected patients unaffected relatives are commonly referred clinical genetics consider genetic testing. However, no consensus exists regarding how such should best be undertaken on which patients. Objective We sought ascertain UK practice...
aDepartment of Clinical Genetics, Oxford University Hospitals NHS Trust bThe Spires Cleft Centre, John Radcliffe Hospital, Oxford, UK Correspondence to Henrietta Lefroy, BSc, MBChB (Hons), MRCP, Department Churchill Old Road, Headington OX3 7LE, Tel: +44 1865 225046; e-mail: [email protected] Received January 29, 2015 Accepted May 13,