[PDF][PDF] Diagnostic Findings in 60 Cases of Isolated and Syndromic Congenital Olfactory Dysfunction

B Jean-Jacques, M Renaud, S Moliere… - Int Arch Transl …, 2019 - pdfs.semanticscholar.org
… 20 Bardet Biedl syndrome and 22 Kallmann syndrome. The … evaluation for trained radiologists
and often central olfactorycorrelations between olfaction impairment and central brain

Gene therapeutic reversal of peripheral olfactory impairment in Bardet-Biedl syndrome

CL Williams, CR Uytingco, WW Green, JC McIntyre… - Molecular therapy, 2017 - cell.com
… Patients with olfactory dysfunctions have limited therapeutic options, particularly those
involving congenital diseases. Bardet-Biedl syndrome (BBS) is one such disorder, where olfactory

A systematic review of olfactory-related brain structural changes in patients with congenital or acquired anosmia

HA Manan, N Yahya, P Han, T Hummel - Brain Structure and Function, 2022 - Springer
… and syndromes such as Kallmann and Bardet Biedl syndromes. … patients with olfactory
dysfunction, the correlation between … (2010a, b) reported atrophy in areas involved in olfactory

Systematic evaluation of olfaction in patients with hereditary cystic kidney diseases/renal ciliopathies

M Dahmer-Heath, V Schriever, S Kollmann… - Journal of Medical …, 2021 - jmg.bmj.com
… Noteworthy, there was no correlation of the olfactory deficit with the level of renal impairment…
(NPH/NPH-RC), Bardet-Biedl syndrome (BBS) and other ciliopathies in comparison with …

Olfactory Dysfunction in Children: A Scoping Review

JE Payandeh, M Motamed… - … –Head and Neck …, 2023 - Wiley Online Library
… This atrophy was found in the olfactory bulbs, olfactory tracts, … often correlated with
abnormalities in structures related to olfaction … nasopharyngeal angiofibroma Bardet-Biedl

Bardet-Biedl syndrome: current perspectives and clinical outlook

A Melluso, F Secondulfo, G Capolongo… - … and Clinical Risk …, 2023 - Taylor & Francis
… in its evaluation in clinical practice. Citation52 MRI evaluation of olfactory bulb can help …
Citation64–66 The association between the BBS and this cancer may be correlated with the …

Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons

N Haq, C Schmidt-Hieber, FJ Sialana, L Ciani… - PLoS …, 2019 - journals.plos.org
… Furthermore, we show that spine deficiency correlates with events that destabilise spine …
Re-evaluation of our earlier mass spectrometric analyses of synaptosomal [33,34] and …

Reproduction function in male patients with Bardet Biedl syndrome

I Koscinski, M Mark, N Messaddeq… - The Journal of …, 2020 - academic.oup.com
Bardet-Biedl syndrome (BBS) is a ciliopathy with a wide spectrum of symptoms due to primary
… Interestingly, 7 out of 10 patients evaluated for olfaction presented an anosmia or severe …

[HTML][HTML] Evidence for impaired olfactory function and structural brain integrity in a disorder of ciliary function, Usher syndrome

JN Ramos, JC Ribeiro, AC Pereira, S Ferreira… - NeuroImage: Clinical, 2019 - Elsevier
… and olfactory functional changes regarding Usher syndrome. Here we aimed to evaluate
volume and OS depth for USH patients and correlate such alterations with olfactory function. …

Correction of cilia structure and function alleviates multi-organ pathology in BardetBiedl syndrome mice

H Husson, NO Bukanov, S Moreno… - Human Molecular …, 2020 - academic.oup.com
… the olfactory response of Bbs2 −/− mice was improved by GCSi treatment, and this effect
correlated with a preservation of the cilia morphology and signaling in the olfactory epithelium. …