Publications by authors named "Rosalyn Jewell"

20Publications

Predisposition to cancer in children and adolescents.

Lancet Child Adolesc Health 2021 Feb;5(2):142-154

SIREDO Paediatric Cancer Center, Institut Curie, Paris, France; INSERM U830, Laboratory of Translational Research in Paediatric Oncology, Institut Curie, Paris, France; Paris Sciences Lettres Research University, Paris, France. Electronic address:

View Article and Find Full Text PDF
February 2021

Homozygosity for the pathogenic RET hotspot variant p.Cys634Trp: A consanguineous family with MEN2A.

Eur J Med Genet 2021 Jan 12;64(2):104141. Epub 2021 Jan 12.

Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, UK.

View Article and Find Full Text PDF
January 2021

Genetic testing in patients with possible foetal alcohol spectrum disorder.

Arch Dis Child 2020 Nov 23. Epub 2020 Nov 23.

Clinical Genetics, Leeds Teaching Hospitals NHS Trust, Leeds, West Yorkshire, UK.

View Article and Find Full Text PDF
November 2020

DSE associated musculocontractural EDS, a milder phenotype or phenotypic variability.

Eur J Med Genet 2020 Apr 23;63(4):103798. Epub 2019 Oct 23.

Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, UK.

View Article and Find Full Text PDF
April 2020

Geroderma osteodysplasticum: Histological features and the role of panel-based exome sequencing in diagnosis.

Ultrastruct Pathol 2018 Mar-Apr;42(2):91-96. Epub 2018 Feb 9.

a Yorkshire Regional Genetics Service , Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust , Leeds , UK.

View Article and Find Full Text PDF
August 2018

Atypical osteogenesis imperfecta caused by a 17q21.33 deletion involving COL1A1.

Clin Dysmorphol 2017 Oct;26(4):228-230

aYorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Leeds bClinical Genetics Service, City Hospital Campus cDepartment of Cytogenetics, Nottingham University Hospitals NHS Trust, Nottingham dDepartment of Paediatric Psychology eHighly Specialised Severe, Complex and Atypical OI Service fSheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust gAcademic Unit of Child Health, University of Sheffield, Sheffield, UK.

View Article and Find Full Text PDF
October 2017

3q27.3 Microdeletion syndrome: further delineation of the second region of overlap and atopic dermatitis as a phenotypic feature.

Clin Dysmorphol 2017 Jul;26(3):154-156

aDepartment of Clinical Genetics, Yorkshire Regional Genetics Service, Chapel Allerton Hospital bDepartment of Cytogenetics, Leeds Genetics Laboratories, Yorkshire Regional Genetics Service, St James's University Hospital, Leeds Teaching Hospitals NHS Trust, Leeds cDepartment of Psychiatry, The Horizon Centre, Fieldhead Hospital, Ouchthorpe Lane, Wakefield, UK.

View Article and Find Full Text PDF
July 2017

Phenotypic features of diploid/triploid mosaicism in an adult.

Clin Dysmorphol 2014 Apr;23(2):56-9

aDepartment of Clinical Genetics, Yorkshire Regional Genetics Service, Chapel Allerton Hospital bDepartment of Cytogenetics, Yorkshire Regional Genetics Service, St James' Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, UK.

View Article and Find Full Text PDF
April 2014

Craniosynostosis: a previously unreported association with CHST3-related skeletal dysplasia (autosomal recessive Larsen syndrome).

Clin Dysmorphol 2014 Jan;23(1):12-5

aClinical Genetics, Sheffield Children's Hospital, Western Bank, Sheffield bYorkshire Regional Genetics Service, Chapel Allerton Hospital cDepartment of Radiology, Leeds General Infirmary dDepartment of Neurosurgery, Leeds Teaching Hospitals NHS Trust, Leeds eClinical Genetics Unit, Birmingham Women's Hospital, Birmingham, UK fDiagenos, Center for Medical Genetics, Caprivistrasse 30, Osnabrueck, Germany.

View Article and Find Full Text PDF
January 2014