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Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients
TLDR
It is confirmed that Stickler syndrome type 1 is predominantly caused by loss-of-function mutations in the COL2A1 gene as >90% of the mutations were predicted to result in nonsense-mediated decay. Expand
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype
TLDR
Based on clinical findings, age at onset and genotype–phenotype correlations in this cohort, it is proposed that guidelines for the management and follow-up in this group of disorders are proposed. Expand
The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene
TLDR
Arginine to cysteine mutations are rather infrequent COL2A1 mutations which cause a spectrum of phenotypes including classic SEDC and Stickler dysplasia, but also some unusual entities that have not yet been recognised and described as type II collagenopathies. Expand
Czech dysplasia metatarsal type: another type II collagen disorder
TLDR
The identification of the Y1391C mutation in this patient with disproportionate short stature made the diagnosis of spondyloperipheral dysplasia (SPD) more probable and supports the evidence that PLSD-T and SPD represent a phenotypic continuum. Expand
A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype–phenotype correlations in type XI collagenopathies
A series of 44 unrelated patients in whom COL2A1 screening demonstrated normal results but whose phenotype was nevertheless highly suggestive of either Stickler syndrome (with ocular involvement) orExpand
Efficacy of flow- vs impedance-guided autoadjustable continuous positive airway pressure: a randomized cross-over trial.
TLDR
These findings suggest that the APAPfl is superior to APAPfot in the control of snoring, and a lower AHI was achieved with APAPFL, at the expense of a higher median pressure but less pressure variability, while the difference with AP APfot was not statistically significant. Expand
Do not turn a blind eye to alkyl nitrite (poppers)!
TLDR
Findings that successful vitrectomy can reduce both periostin and VEGF for a long time suggest that a successful vit rectomy may inhibit both angiogenesis and subsequent fibrosis by reducing the level of these molecules. Expand
Retinal nerve fiber layer thickening in ARSACS carriers
TLDR
The most conspicuous ophthalmological feature of ARSACS is an increased thickness of the peri-papillary retinal nerve fiber layer, which has not been reported before. Expand
Age‐dependent ocular phenotype in hereditary hyperferritinaemia cataract syndrome (HHCS)
TLDR
Managing the management of type 2 diabetics requiring panretinal photocoagulation and cataract surgery with a focus on improving pupil response to mydriatics. Expand
Erratum to: Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients
TLDR
This book is dedicated to the memory of those who died in the line of duty during the conflicts of World War One and World War Two. Expand
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