Expanding the phenotype of SPARC-related osteogenesis imperfecta: clinical findings in two patients with pathogenic variants in SPARC and literature review

A Durkin, C DeVile, P Arundel, M Bull… - Journal of medical …, 2022 - jmg.bmj.com
Background Secreted protein, acidic, cysteine rich (SPARC)-related osteogenesis
imperfecta (OI), also referred to as OI type XVII, was first described in 2015, since then there …

Classical-like Ehlers–Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragility

C Green, N Ghali, R Akilapa, C Angwin, D Baker… - Genetics in …, 2020 - nature.com
Purpose Currently, 31 patients with classical-like EDS (clEDS) due to tenascin-X deficiency
have been reported in the literature. We report on the clinical and molecular characteristics …

F508del CFTR gene mutation in patients with allergic bronchopulmonary aspergillosis

MN Gamaletsou, G Hayes, C Harris, J Brock… - Journal of …, 2018 - Taylor & Francis
Objective: The F508del mutation occurs in approximately 3.5% of Caucasian population of
Northern Europe. Heterozygotes have increased risk for asthma and reduced pulmonary …

Non-collagen pathogenic variants resulting in the osteogenesis imperfecta phenotype in children: a single-country observational cohort study

P Thornley, N Bishop, D Baker, J Brock… - Archives of Disease in …, 2022 - adc.bmj.com
Background/Objectives In England, children (0–18 years) with severe, complex and atypical
osteogenesis imperfecta (OI) are managed by four centres (Birmingham, Bristol, London …

[HTML][HTML] Challenge for a new era—importance of ensuring accuracy of genotype in cystic fibrosis registries

CL Hartley, PJ Barry, H Green… - Journal of Cystic …, 2016 - cysticfibrosisjournal.com
Given the increasing medical and financial importance of genotyping in an era of
personalised CF medicine, we wanted to investigate how accurately this information was …

[CITATION][C] Mutations of the SBDS gene in Shwachman-Diamond syndrome

J Brock, J Shorto, S McCormack… - JOURNAL OF …, 2009 - BMJ PUBLISHING GROUP BRITISH …