Search Results - "Westermann, C"
-
1
International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia
Published in Journal of medical genetics (01-02-2011)“…HHT is an autosomal dominant disease with an estimated prevalence of at least 1/5000 which can frequently be complicated by the presence of clinically…”
Get more information
Journal Article -
2
ConoServer, a database for conopeptide sequences and structures
Published in Bioinformatics (01-02-2008)“…ConoServer is a new database dedicated to conopeptides, a large family of peptides found in the venom of marine snails of the genus Conus. These peptides have…”
Get full text
Journal Article -
3
Framework for personalized prediction of treatment response in relapsing remitting multiple sclerosis
Published in BMC medical research methodology (07-02-2020)“…Personalized healthcare promises to successfully advance the treatment of heterogeneous neurological disorders such as relapsing remitting multiple sclerosis…”
Get full text
Journal Article -
4
SMAD4 mutations found in unselected HHT patients
Published in Journal of medical genetics (01-10-2006)“…Background: Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant disease exhibiting multifocal vascular telangiectases and arteriovenous…”
Get full text
Journal Article -
5
Life expextancy of parents with Hereditary Haemorrhagic Telangiectasia
Published in Orphanet journal of rare diseases (22-04-2016)“…Hereditary Haemorrhagic Telangiectasia (HHT) is an autosomal dominant disease associated with epistaxis, arteriovenous malformations and telangiectasias…”
Get full text
Journal Article -
6
SMAD4 gene mutation increases the risk of aortic dilation in patients with hereditary haemorrhagic telangiectasia
Published in International journal of cardiology (15-10-2017)“…Mutations in the genes ENG, ACVRL1 and SMAD4 that are part of the transforming growth factor-beta signalling pathway cause hereditary haemorrhagic…”
Get full text
Journal Article -
7
QIL1-dependent assembly of MICOS complex-lethal mutation in C19ORF70 resulting in liver disease and severe neurological retardation
Published in Journal of human genetics (01-06-2018)“…Seven subunits of the mitochondrial contact site and cristae junction (CJ) organizing system (MICOS) in humans have been recently described in function and…”
Get full text
Journal Article -
8
Screening for pulmonary arteriovenous malformations using transthoracic contrast echocardiography: a prospective study
Published in The European respiratory journal (01-01-2009)“…Pulmonary arteriovenous malformations (PAVMs) are associated with severe neurological complications in patients with hereditary haemorrhagic telangiectasia…”
Get full text
Journal Article -
9
Field Anesthesia of the Maned Wolf (Chrysocyon brachyurus) in Bolivia
Published in Journal of wildlife diseases (01-07-2021)“…Fifteen maned wolves (Chrysocyon brachyurus) were anesthetized a total of 43 times as part of a long-term ecology and health study in a remote region of…”
Get full text
Journal Article -
10
Evidence‐based therapy for atypical myopathy in horses
Published in Equine veterinary education (01-11-2018)“…Summary The aim of this review is to establish the best therapy for equine atypical myopathy with a view to improving the survival rate. To this end, the…”
Get full text
Journal Article -
11
Hypoglycin A Concentrations in Maple Tree Species in the Netherlands and the Occurrence of Atypical Myopathy in Horses
Published in Journal of veterinary internal medicine (01-05-2016)“…BACKGROUND: Atypical myopathy (AM) in horses is caused by the plant toxin hypoglycin A, which in Europe typically is found in the sycamore maple tree (Acer…”
Get full text
Journal Article -
12
Reproducibility of right-to-left shunt quantification using transthoracic contrast echocardiography in hereditary haemorrhagic telangiectasia
Published in Netherlands heart journal (01-04-2018)“…Aim Transthoracic contrast echocardiography (TTCE) is recommended for screening of pulmonary arteriovenous malformations (PAVMs) in hereditary haemorrhagic…”
Get full text
Journal Article -
13
Follow-up of Thalidomide treatment in patients with Hereditary Haemorrhagic Telangiectasia
Published in Rhinology (01-12-2015)“…Patients with a hereditary vascular disorder called Rendu-Osler-Weber syndrome (Hereditary Haemorrhagic Telangiectasia, HHT) haemorrhage easily due to…”
Get full text
Journal Article -
14
Pulmonary arteriovenous malformations associated with migraine with aura
Published in The European respiratory journal (01-10-2009)“…Migraine with aura (MA) is associated with cardiac right-to-left shunt. We prospectively studied the association between pulmonary arteriovenous malformations…”
Get full text
Journal Article -
15
European outbreaks of atypical myopathy in grazing equids (2006-2009): Spatiotemporal distribution, history and clinical features
Published in Equine veterinary journal (01-09-2012)“…Summary Reasons for performing study: Improved understanding of the epidemiology of atypical myopathy (AM) will help to define the environmental factors that…”
Get full text
Journal Article Web Resource -
16
Embolization of pulmonary arteriovenous malformations and decrease in prevalence of migraine
Published in Neurology (24-01-2006)“…To determine if embolization of pulmonary arteriovenous malformations (PAVMs) decreases the occurrence of migraine. All 105 patients with hereditary…”
Get full text
Journal Article -
17
Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients
Published in Human genetics (01-01-2005)“…Hereditary hemorrhagic telangiectasia (HHT) or Rendu-Osler-Weber disease is an autosomal dominant disorder characterized by an aberrant vascular development…”
Get full text
Journal Article -
18
The effect of N-acetylcysteine on epistaxis and quality of life in patients with HHT : a pilot study
Published in Rhinology (01-03-2009)“…Free O2- radicals may cause precapillary sphincter abnormalities, resulting in epistaxis in hemizygous knockout mice for Endoglin. The objective of this study…”
Get full text
Journal Article -
19
Life expectancy of parents with Hereditary Haemorrhagic Telangiectasia
Published in Orphanet journal of rare diseases (22-04-2016)“…Hereditary Haemorrhagic Telangiectasia (HHT) is an autosomal dominant disease associated with epistaxis, arteriovenous malformations and telangiectasias…”
Get full text
Journal Article -
20
Follow-up of Thalidomide treatment in patients with Hereditary Haemorrhagic Telangiectasia
Published in Rhinology (01-12-2015)“…Background: Patients with a hereditary vascular disorder called Rendu-Osler-Weber syndrome (Hereditary Haemorrhagic Telangiectasia, HHT) haemorrhage easily due…”
Get full text
Journal Article