Hereditary Haemorrhagic Telangiectasia

Scientific research on HHT

Scientific research is necessary further improve screening modalities and treatment options. The St. Antonius Hospital is well-positioned for such research, on the one hand because of the large amount of medical data it has available and, on the other hand, because of its close cooperation with excellent laboratories.

SWORO Foundation

The Foundation (Stichting) for Scientific (Wetenschappelijk) Research (Onderzoek) in Rendu Osler disease (SWORO) was founded in September 2005 to find the means to achieve the above goals (see addresses). Money is required for scientific work (to cover salaries for young researches, lab work and equipment, etc). Your contribution is well appreciated in our  quest for more scientific discoveries.

Research on HHT

Below you can find an overview of all scientific research conducted on HHT from 1993 up untill 2016.

2016

de Gussem EM, Edwards CP, Hosman AE, Westermann CJ, Snijder RJ, Faughnan ME and Mager JJ. Life expectancy of parents with Hereditary Haemorrhagic Telangiectasia. Orphanet Journal of Rare Diseases 2016; 11(1):46.

Gkatzis K, Thalgott J, Dos-Santos-Luis D, Martin S, Lamande N, Carette MF, Disch F, Snijder RJ, Westermann CJ, Mager JJ, Oh SP, Miquerol L, Arthur HM, Mummery CL and Lebrin F. Interaction Between ALK1 Signaling and Connexin40 in the Development of Arteriovenous Malformations. Arteriosclerosis, Thrombosis, & Vascular Biology 2016; 36(4):707-717.

Vorselaars VM, Velthuis S, Snijder RJ, Mager JJ and Post MC. Thoracic aorta dilation in patients with hereditary hemorrhagic telangiectasia due to SMAD4 gene mutation. American Journal of Medical Genetics.Part A 2016; 170(3):811-812.

Vorselaars VM, Velthuis S, Snijder RJ, Westermann CJ, Vos JA, Mager JJ and Post MC. Follow-up of pulmonary right-to-left shunt in hereditary haemorrhagic telangiectasia. European Respiratory Journal 2016; [Epub ahead of print] 

2015

Hosman A, Westermann CJ, Snijder R, Disch F, Mummery CL and Mager JJ. Follow-up of Thalidomide treatment in patients with Hereditary Haemorrhagic Telangiectasia. Rhinology 2015; 53(4):340-344.

Velthuis S, Buscarini E, Gossage JR, Snijder RJ, Mager JJ and Post MC. Clinical Implications of Pulmonary Shunting on Saline Contrast Echocardiography. Journal of the American Society of Echocardiography 2015; 28(3):255-263.

Velthuis S, Vorselaars VM, Westermann CJ, Snijder RJ, Mager JJ and Post MC. Pulmonary Shunt Fraction Measurement Compared to Contrast Echocardiography in Hereditary Haemorrhagic Telangiectasia Patients: Time to Abandon the 100% Oxygen Method. Respiration 2015; 89(2):112-118.

Vorselaars VM, Velthuis S, Snijder RJ, Vos JA, Mager JJ and Post MC. Pulmonary hypertension in hereditary haemorrhagic telangiectasia. World Journal of Cardiology 2015; 7(5):230-237.

Vorselaars VM, Velthuis S, Swaans MJ, Mager JJ, Snijder RJ, Rensing BJ, Boersma LV and Post MC. Percutaneous left atrial appendage closure-An alternative strategy for anticoagulation in atrial fibrillation and hereditary hemorrhagic telangiectasia? Cardiovascular Diagnosis & Therapy 2015; 5(1):49-53.

Weijs B, de Booij M, Mager HJ, Vos JA and Bootsma GP. Answer to Photo Quiz: A potentially hazardous object with benign appearance at the outset. Netherlands Journal of Medicine 2015; 73(7):349-350.

Weijs B, de Booij M, Mager HJ, Vos JA and Bootsma GP. A potentially hazardous object with benign appearance at the outset. Netherlands Journal of Medicine 2015; 73(7):348-340.

2014

de Gussem EM, Lausman AY, Beder AJ, Edwards CP, Blanker MH, Terbrugge KG, Mager JJ and Faughnan ME. 
Outcomes of Pregnancy in Women With Hereditary Hemorrhagic Telangiectasia. 
Obstetrics & Gynecology 2014; 123(3):514-520. 

Menko FH, Jacobs MA, Mager JJ, Nicolai JJ, Mensenkamp AR and Aalfs CM. Een jongeman met intestinale polyposis en epistaxis. Nederlands Tijdschrift voor Geneeskunde 2014; 158:A7398.

Velthuis S, Buscarini E, Mager JJ, Vorselaars VMM, van Gent MWF, Gazzaniga P, Manfredi G, Danesino C, Diederik AL, Vos JA, Gandolfi S, Snijder RJ, Westermann CJJ and Post MC. 
Predicting the size of pulmonary arteriovenous malformations on chest computed tomography: a role for transthoracic contrast echocardiography. 
European Respiratory Journal 2014; [Epub ahead of print]

Velthuis S, Buscarini E, Mager JJ, Vorselaars VMM, van Gent MWF, Gazzaniga P, Manfredi G, Danesino C, Diederik AL, Vos JA, Gandolfi S, Snijder RJ, Westermann CJJ and Post MC. Predicting the size of pulmonary arteriovenous malformations on chest computed tomography: a role for transthoracic contrast echocardiography. European Respiratory Journal 2014; 44(1):150-159. 

Vorselaars VMM, Velthuis S, Mager JJ, Snijder RJ, Bos W-, Vos JA, Strijen MJL and Post MC. Direct haemodynamic effects of pulmonary arteriovenous malformation embolisation. Netherlands Heart Journal 2014; 22(7-8):328-333.

Vorselaars VMM, Velthuis S, Mager JJ, Snijder RJ, Bos W-, Vos JA, Strijen MJL and Post MC. 
Direct haemodynamic effects of pulmonary arteriovenous malformation embolisation. 
Netherlands Heart Journal 2014; [Epub ahead of print]

2013

Diederik AL, Mager JJ, van den Heuvel DAF, Snijder R and Vos JA. 
Recanalization after pulmonary arteriovenous malformation (PAVM) embolization. Hematology Reports 2013; 5(Suppl 1):58. 

Diederik AL, Mager JJ, van den Heuvel DAF, van Strijen MJL, Snijder R and Vos JA. 
Preliminary results of the PIRANA trial. Hematology Reports 2013; 5(Suppl 1):58-59. 

Gauthier A, Diederik AL, Westermann CJJ, Snijder R and Mager JJ. 
Children screening for PAVM: 15 years follow-up in the Netherlands. Hematology Reports 2013; 5(Suppl 1):43-44. 


Gkatzis K, Orlova V, Freud C, ten Dijke P, Disch F, Westermann K, Mager HJ and Mummery C. 
Endothelial cells derived from HHT1 patient specific induced pluripotent stem cells (IPSCS) show reduced endoglin (ENG) protein levels and altered downstream signalling. 
Hematology Reports 2013; 5(Suppl 1):67. 

Letteboer TGW, Mager JJ, Snijder R, van Erkel AJM, Westermann CJJ and Ploos van Amstel JK. 
Molecular and genetic heterogeneity in HHT: the results op 12 years of DNA diagnostics in the Netherlands. 
Hematology Reports 2013; 5(Suppl 1):53-54. 

Orlova V, Freud C, Gkatzis K, Drabsch Y, van den Hil L, Disch F, Mager HJ, Snijder R, Westermann K, ten Dijke P and Mummery C. 
Modeling Hereditary Haemorrhagic Telangiectasia (HHT) with patient specific induced pluripotent stem cells (IPSCS). 
Hematology Reports 2013; 5(Suppl 1):4-5. 

van Gent MWF, Velthuis S, Post MC, Snijder RJ, Westermann CJJ, Letteboer TGW and Mager JJ. 
Hereditary hemorrhagic telangiectasia: how accurate are the clinical criteria? 
American Journal of Medical Genetics Part A 2013; 161(3):461-466. 

Velthuis S, Buscarini E, van Gent MW, Gazzaniga P, Manfredi G, Danesino C, Schonewille WJ, Westermann CJ, Snijder RJ, Mager JJ and Post MC. 
Grade of pulmonary right-to-left shunt on contrast echocardiography and cerebral complications; a striking association. 
Chest 2013; 144(2):542-548. 

Velthuis S, Buscarini E, van Gent MWF, Gazzaniga P, Manfredi G, Danesino C, Schonewille WJ, Westermann CJJ, Snijder R, Mager JJ and Post MC. 
Grade of pulmonary right-to-left shunt on contrast echocardiography and cerebral complications; a strking association. 
Hematology Reports 2013; 5(Suppl 1):33. 

Velthuis S, Buscarini E, van Gent MWF, Gazzaniga P, Manfredi G, Danesino C, Westermann CJJ, Snijder R, Mager JJ and Post MC. Pulmonary shunt grading on transthoracic contrast echocardiography preditcs the indication for transcatheter embolotheraoy of pulmonary arteriovenous malformations. Hematology Reports 2013; 5(Suppl 1):32. 

Velthuis S, Buscarini E, van Gent MWF, Gazzaniga P, Manfredi G, Danesino C, Westermann CJJ, Snijder RJ, Mager JJ and Post MC. Pulmonary shunt grading on transthoracic contrast echocardiography predicts the indication for transcatheter embolotherapy of pulmonary arteriovenous malformations. European Heart Journal 2013; 34(Suppl 1):677. 

Velthuis S, Vorselaars VM, van Gent MW, Westermann CJ, Snijder RJ, Mager JJ and Post MC. 
Role of transthoracic contrast echocardiography in the clinical diagnosis of hereditary hemorrhagic telangiectasia. 
Chest 2013; 144(6):1876-1882. 

Velthuis S, Vorselaars VMM, van Gent MWF, Westermann CJJ, Snijder R, Mager JJ and Post MC. 
The role of transthoracic contrast echocardiography in the clinical diagnosis of hereditary haemorrhagic telangiectasia. 
Hematology Reports 2013; 5(Suppl 1):34. 

Velthuis S, Vorselaars VMM, Westermann CJJ, Snijder R, Mager JJ and Post MC. 
Diagnostic accuracy of the 100% oxygen method in detecting pulmonary right-to-left shunts compared to transthoracic contrast echocardiography. 
Hematology Reports 2013; 5(Suppl 1):57. 

Velthuis S, Vorselaars VMM, Westermann CJJ, Snijder RJ, Mager JJ and Post MC. 
Diagnostic accuracy of the 100% oxygen method in detecting pulmonary right-to-left shunts compared to transthoracic contrast echocardiography. 
European Heart Journal 2013; 34(Suppl 1):49. 

Velthuis S, Vorselaars VMMvG,M.W.F., Westermann CJJ, Snijder RJ, Mager JJ and Post MC. 
The role of transthoracic contrast echocardiography in the clinical diagnosis of hereditary haemorrhagic telangiectasia. 
European Heart Journal 2013; 34(Suppl 1):677-678. 

Vorselaars VMM, Velthuis S, Mager JJ, Snijder R, Bos WJ, Vos JA, van Strijen MJL and Post MC. 
Direct hemodynamic effect of pulmonary arteriovenous malformation embolisation. 
Hematology Reports 2013; 5(Suppl 1):60. 

Vorselaars VMM, Velthuis S, Mager JJ, Snijder R and Post MC. 
Follow-up of the pulmonary right-to-left shunt with transthoracic contrastn echocardiography in hereditary hemorrhagic telangiectasia. 
Hematology Reports 2013; 5(Suppl 1):61-62. 

Vorselaars VMM, Velthuis S, Swaans MJ, Mager JJ, Snijder R, Rensing BJWM, Boersma LVA and Post MC. 
Left atrial appendage closure for stroke prevention in patients with hereditary hemorrhagic telangiectasia and atrial fibrillation. 
Hematology Reports 2013; 5(Suppl 1):29.

2012

Velthuis S, Swaans MJ, Mager JJ, Rensing BJWM, Boersma LVA and Post MC. 
Case ReportLeft Atrial Appendage Closure for Stroke Prevention in Patients with Atrial Fibrillation and Hereditary Hemorrhagic Telangiectasia. 
Case Reports in Cardiology 2012; 2012:Article ID 646505.

2011

de Gussem EM, Snijder RJ, Westermann CJJ and Mager JJ. 
Brain abscesses in patients with hereditary hemorrhagic telangiectasia. 
Hematology Reports 2011; 3:32.

Faughnan ME, Palda VA, Garcia-Tsao G, Geisthoff UW, McDonald J, Proctor DD, Spears J, Brown DH, Buscarini E, Chesnutt MS, Cottin V, Ganguly A, Gossage JR, Guttmacher AE, Hyland RH, Kennedy SJ, Korzenik J, Mager JJ, Ozanne AP, Piccirillo JF, Picus D, Plauchu H, Porteous ME, Pyeritz RE, Ross DA, Sabba C, Swanson K, Terry P, Wallace MC, Westermann CJ, White RI, Young LH and Zarrabeitia R. 
International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. 
Journal of Medical Genetics 2011; 48(2):73-87.

Lebrin F, Srun S, Bracquart D, Martin S, Le Naoures C, Arthur HM, Westermann CJJ, Disch F, Mager JJ, Snijder RJ, Eichmann A and Mummery CL. 
From mechanisms of disease to therapeutic assays: New approaches to treatment of bleeding in HHT patients. 
Hematology Reports 2011; 3:7.

Lebrin F, Srun S, Bracquart D, Martin S, Le NC, Arthur HM, Westermann CJJ, Disch F, Mager JJ, Snijder RJ, Eichmann A and Mummery CL. 
Rom mechanisms of disease to therapeutic assays: New approaches to treatment of bleeding in HHT patients. 
Hematology Reports 2011; 3:12.

Meer FVD, Disch F, Snijder RJ, Westermann CJJ and Mager JJ. 
Bevacizumab nasal spray for frequent epistaxis in HHT. 
Hematology Reports 2011; 3:22.

Post MC, van Gent MWF, Westermann C, Snijder RJ and Mager JJ. 
Grade of right-to-left shunt using contrast transthoracic echocardiography and the comparison with partial oxygen pressure in patients screened for hereditary hemorrhagic teleangiectasia. 
Hematology Reports 2011; 3:49.

van Gent MW, Mager JJ, Snijder RJ, Westermann CJ, Plokker HW, Schonewille WJ, Thijs V and Post MC. 
Relation between migraine and size of echocardiographic intrapulmonary right-to-left shunt. 
American Journal of Cardiology 2011; 107(9):1399-1404.

van Gent MWF, Post MC, Snijder RJ, Westermann CJJ and Mager JJ. 
Diagnostic accuracy of transthoracic contrast echocardiography as a screening method for pulmonary arteriovenous malformations. 
European Heart Journal 2011; 32:115-116.

van Gent MWF, Post MC, Veltuis S, Mann CJJ, Mager JJ and Snijder RJ. 
Activin receptor-like kinase-1 and endoglin are not related with pulmonary hypertension in hereditary hemorrhagic teleangiectasia. 
Hematology Reports 2011; 3:13-14.

van Gent MWF, Snijder RJ, Westermann C, Toom T, Mager JJ and Post MC. 
Contrast transthoracic echocardiography in hereditary hemorrhagic teleangiectasia: A 5-years follow up study. 
Hematology Reports 2011; 3:17.

van Gent MWF, Snijder RJ, Westermann CJJ, Overtoom TT, Mager JJ and Post MC. 
Diagnostic accuracy of transthoracic contrast echocardiography as a screening method for pulmonary arteriovenous malformations. 
Hematology Reports 2011; 3:15.

Velthuis S, van Gent MWF, Mager JJ, Westermann CJJ, Snijder RJ and Post MC. 
Grade of pulmonary right-to-left shunt on transthoracic contrast echocardiography and the prevalence of neurological complications in persons screened for hereditary hemorrhagic telangiectasia. 
European Journal of Echocardiography 2011; 12:Abstract number P726.

Velthuis S, van Gent MWF, Post MC, Westermann CJJ, Mager JJ and Snijder RJ. 
Patients with endoglin or ALK-1 mutation do not display an increased prevalence of Pulmonary Arterial Hypertension compared to controls. 
European Journal of Echocardiography 2011; 12:Abstract number P708.

Veltuis S, Post MC, van Gent MWF, Mager JJ, Westermann C and Snijder RJ. 
Partial oxygen pressure is no predictor for migraine with aura in patients screened for hereditary hemorrhagic teleangiectasia. 
Hematology Reports 2011; 3:48-49.

Veltuis S, van Gent MWF, Mager JJ, Westermann C, Snijder RJ and Post MC. 
Grade of pulmonary right-to-left shunt using contrast transthoracic echocardiography associated with neurological complications. 
Hematology Reports 2011; 3:16.

2010

Kloppenburg GTL, Post MC, Mager HJ and Schepens MAAM. 
Rerouting anomalous hepatic venous connection to the left atrium. 
Annals of Thoracic Surgery 2010; 90(2):638-640.

Lebrin F, Srun S, Raymond K, Martin S, van den Brink S, Freitas C, Breant C, Mathivet T, Larrivee B, Thomas JL, Arthur HM, Westermann CJ, Disch F, Mager JJ, Snijder RJ, Eichmann A and Mummery CL. 
Thalidomide stimulates vessel maturation and reduces epistaxis in individuals with hereditary hemorrhagic telangiectasia. 
Nature medicine 2010; 16(4):420-428.

Post S, Smits AM, van den Broek AJ, Sluijter JP, Hoefer IE, Janssen BJ, Snijder RJ, Mager JJ, Pasterkamp G, Mummery CL, Doevendans PA and Goumans MJ. 
Impaired recruitment of HHT-1 mononuclear cells to the ischemic heart is due to an altered CXCR4/CD26 balance. 
Cardiovascular Research 2010; 85(3):494-502.

van Gent MW, Post MC, Snijder RJ, Westermann CJ, Plokker HW and Mager JJ. 
Real prevalence of pulmonary right-to-left shunt according to genotype in patients with hereditary hemorrhagic telangiectasia: a transthoracic contrast echocardiography study. 
Chest 2010; 138(4):833-839.

van Helden M, van Gent MWF, Post MC, Westermann CJJ, Mager JJ and Snijder RJ. 
Hereditary haemorrhagic telangiectasia: how accurate are the clinical criteria? ISSVA 2010; 
van Helden MH, van Gent MW, Westermann CJ, Snijder RJ, Plokker HWM, Mager JJ and Post MC. 
Activin receptor-like kinase-1 and endoglin are not related with pulmonary hypertension in hereditairy hemorrhagic teleangiectasia. 
European Heart Journal 2010; 31:8.

van Helden MHAM, van Gent MW, Westermann CJJ, Snijder RJ, Plokker HWM, Mager JJ and Post MC. 
Activin receptor-like kinase 1 and endoglin are not related with pulmonary hypertension in hereditary haemorrhagic telangiectasia. 
Netherlands Heart Journal 2010; 18:22. 
  
Gent MWF van, Helden HAM van, Mager JJ, Post MC
The relation between intrapulmonary right-to-left shunt and migraine: a review.
Annals Resp Med 2010

Gent MWF van, Helden HAM van, Mager JJ, Post MC
The relation between intrapulmonary right-to-left shunt and migraine: a review.
Annals Resp Med 2010

2009

Post S, Smits AM, Broek AI van den, Sluiter JPG, Hoefer IE, Janssen BJ, Snijder RJ, Mager JJ, Pasterkamp G, Mummery CL, Doevendans PA, Goumans G-J
Impaired recruitment of HHT-1 mononuclear cells to the ischaemic heart is due to an altered CXCR4/CD26 balance
Cardiovasc Research @009; doi.1093/cvr/cvp313
 
Braak SJ, Witt CA, Disch FJM, Overtoom TThC, Westermann CJJ
Percutaneous embolization on hereditary haemorrhagic telangiectasia patients with severe epistaxis
Rhinology 2009; 47: 166-71
  
Post MC, Gent MWF van, Plokker HWM, Westermann CJJ, Kelder JC, Mager JJ, Overtoom TT, Schonewille JJ, Thijs V, Snijder RJ
Pulmonary arteriovenous malformations associated with migraine with aura
Eur Respir J 2009;34: 882-7
 
Westermann CJJ, Mager JJ, Mauser HW, Overtoom TT
Stroke following pulmonary arteriovenous fistula embolization in a patient with HHT
Neurology 2009: 73: 1427
 
Gussem EM de, Snijder RJ, Disch FJ, Zanen P, Westermann CJJ, Mager JJ
The effect of N-Acetylcysteine on epistaxis and quality of life in patients with HHT: a pilot study
Rhinology 2009; 47: 85-8
 
Gent MWF van, Post MC, Luermans JGLM, Snijder RJ< Westermann CJJ, Plokker HWM, Overtoom TT, Mager JJ
Screening for pulmonary arteriovenous malformations using transthoracic contrast echography: a prospective study
Eur Respir J 2009; 33: 85-91
 
Gussem EM de, Edwards CP, Westermann CJJ, Faughnan ME, Mager JJ
Life expectancy of parents with hereditary haemorrhagic telangiectasia
ATS 2009-12-02
 
Faughnan ME, Mager JJ, Westermann CJJ et al.
International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia
J med Genet 2009: June
 
Gent MWF van, Post MC, Snijder RJ, Swaans MJ, Plokker HWM, Westermann CJJ, Overtoom TT, Mager JJ
Grading of right-to-left shunt with transthoracic echocardiography
Chest 2009; 135: 1288-92

2008

Post MC, Gent MWF van, Swaans MJ, Jaarsma W, Plokker HWM, Snijder RJ, Overtoom TT, Mager JJ
Transthoracic contrast echo-cardiography grading to predict the presence of pulmonary arteriovenous malformations on chest CT
Eur J Echocardiography 2008
 
Post MC et al.
Pulmonary arteriovenous malformations and migraine: a new vision
Respiration 2008; 76: 228-33
 
Letteboer TGW, Mager JJ, Snijder RJ< Lindhout D, Ploos van Amstel HK, Zanen P, Westermann CJJ
Genotype-phenotype relationship for localization and age distribution of teleangiectases in hereditary haemorrhagic telangiectasia
Am J Med genet 2008; 146A: 2733-9

2007

Post MC, Budts WIHL, Westermann CJJ
Cardiac and Pulmonary Right-to-left shunts.
Migraine Disorders Research Trends, chapter 13, 2007 Nova Science Publishers, Inc. 

Van Tuyl SA, Letteboer TG, Rogge-Wolf C, Kuipers EJ, Snijder RJ, Westermann CJJ, Stolk MF
Assessment of intestinal vascular malformations in patients with hereditary hemorrhagic teleangiectasia and anemia. Eur J Gastroent Hepat 2007; 19:153-158.

2006

Post MC, Thijs V, Schoonewille WJ, Budts W, Snijder RJ, Plokker Th. Westermann CJJ.
Embolization of pulmonary arteriovenous malformations and decrease in prevalence of migraine. Neurology 2006;66:202-5.

Letteboer TGW, Mager JJ, Snijder RJ, Koeleman BPC, Lindhout D, Ploos van Amster JK, Westermann CJJ. 
Genotype-phenotype relationship in Hereditary Hemorrhagic Telangiectasis.
J Med Gen 2006;43:371-377 

Driesche S van der, Feyen A, Thorikay M, Lux A, Westermann CJJ, Dikje P ten, Mummery CL, Lebrin F.

Functional analysis of ? 32bpIns11bp mutation in endoglin. Submitted 

Driesche S van der, Laake LW van, Post S, Feijen A, Jansen MA, Driessens MH, Mager JJ, Snijder RJ, Westermann CJJ, Doevendans PA, Echteld CJA, Dijke P ten, Arthur MH, Goumans MJ, Lebrin F, Mummery CL.
Defective blood derived endothelial cell mediated vascular repair contributes to the etiology of hereditary hemorrhagic telangiectasia. 
Submitted.

Gallione CJ, Richards JA, Letteboer TGW, Wushlow D, Prigoda NL, Leedan TP,. Ganguly A, Castells A, Ploos van Amstel JK, Westermann CJJ, Pyerits RE, Marchuk DA.
SMAD4 Mutations Found in Unselected HHT Patients.
J Med Genet 2006; 43:793-797.

Letteboer TGW, Mager JJ, Snijder RJ, Lindhout D, Ploos van Amstel JK, Zanen P, Westermann JJ. 
Localisation and age distribution of telangiectases in Hereditary Hemorrhagic Telangiectasia. 
Submitted.

Letteboer TGW, Kuit RM, Disch FJM, Mager JJ, Snijder RJ, Lindhout D, Ploos van Amstel JK, Zanen P, Westermann CJJ.
Epistaxis, onset and frequency in HHT-1 and HHT-2. 
Submitted.

Tuyl SAC van, Tenthof van Noorden J, Letteboer TGW, Kuipers EJ, Snijder RJ, Westermann CJJ, Stolk MFJ.
Assessment of intestinal vascular malformations in patients with hereditary hemorrhagic telangiectasia and anaemia.
Submitted.

2005

Letteboer TGW,Mager JJ,Snijder RJ,Koeleman BPC,Lindhout D,Ploos van Amstel JK,Westermann CJJ
Genotype-phenotype relationship in Hereditary Hemorrhagic Telangiectasia, 
J Med Gen; 2005: in press.

Letteboer TGW, Zewald RA, Kamping EJ, Haas G de, Mager JJ, Snijder RJ, Lindhout D, Hennekam FAM, Westermann CJJ, Ploos van Amstel JK
Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients 
Hum.Genet. 2005; 116:8-16

Post MC, Westermann CJJ et al.
A pulmonary right-to-left shunt in patients with HHT is associated with an increased prevalence of migraine. Chest 2005; 128:2485-2489.

2004

Gallione CJ, Repetto GM, Legius E, Rustgi AK, Schelley SL, Tejpar S, Mitchell G, Drovin E, Westermann CJJ, Marchuk DA.
A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4)
Lancet 2004; 363:852-59

2003

Westermann CJJ, Rosina AF, Vries V de, Coteau PA de
The prevalence and manifestations of HHT in the Afro-Caribbean population of the Netherlands Antilles: A family screening Am 
J Med Gen 2003; 116A:324-8

Westermann CJJ
De ziekte van Rendu-Osler-Weber: diagnose, genotype-fenotype 
Ned Tijdschr Geneeskd 2003; 147:442

Mager JJ
Pulmonale arterioveneuze malformaites: diagnose, complicaties, behandelng
Ned Tijdschr Geneeskd 2003; 147:442-3

Driesche S van der, Mummery CL, Westermann CJJ
Hereditary hemorrhagic telangiectasia: an update on transforming growth factor ? signaling in vasculogenesis and angiogenesis.
Cardiovasc. Research 2003; 58:20-31

Westermann CJJ, Rosina AF, Vries V de, Mager JJ
Hoge prevalentie van de ziekte van Rendu-Osler-Weber in de Afro-Caribische bevolking van de Nederlandse Antillen. Ned Tijdschr Geneeskd 2003; 147:1595-1600

2002

Mager JJ, Zanen P, Verzijlbergen F, Westermann CJJ, Haitjema T, Herk G van, Lammers JWJ

Quantification of right-to-left shunt with 99mTC-labelled albumin macroaggregates and 100% oxygen in patients with hereditary haemorrhagic tlangiectasia
Cinical Science 2002; 102:127-134
 
Willemse RB, Westermann CJJ, Van der Top WP
Cerebrovasculaire malformaties bij hereditaire hemorrhagische teleangiectasieën
Ned Tijdschr Neurologie 2002; 6:472-6

Koppen S. Korver CRW, Dalinghaus M, Westermann CJJ
Neonatal pulmonary arteriovenous malformation in hereditary haemorrhagic telangiectasia
Arch Dis Child Fetal Neonatal Ed 2002; 87:F226-227

Mager JJ
Clinical aspects of hereditary haemorrhagic telangiectasia
Proefschrift 2002, Utrecht

2001

Mager JJ, Overtoom TThC, Mauser HW, Westermann CJJ
Early cerebral infarction after embolotherapy of a pulmonary arteriovenous malformation
JVIR 2001; 12:122-3

Mager JJ, Schutgens REG, Haas FJLM, Westermann CJJ 
The early course of D-dimer concentration following pulmonary artery embolisation
Thromb Haemost 2001; 86:1578-9
2000

Gallione CJ, Scheessele EA, Reinhardt D, Duits AJ, Berg JN, Westermann CJJ, Marchuk DA
Two common endoglin mutations in families with hereditary hemorrhagic telangiectasia in the Netherlands Antilles: evidence for a founder effect.
Hum Gent 2000: 107:40-4

Mager JJ, Westermann CJJ
Value of capillary microscopy in the diagnosis of Hereditary Hemorrhagic Telangiectasia
Arch Dermatol 2000; 136:732-4

Shovin CL, Guttmacher AE, Buscarini E, Faughnan M, Hyland RH, Westermann CJJ, Kjeldsen AD, Plauchu H.
Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber Syndrome) Am J Med Genet 2000; 91:66-7

Willemse RB, Mager JJ, Westermann CJJ, Overtoom TThC, Mauser H, Wolbers JG
Bleeding risk of cerebrovascular malformations in hereditary hemorrhagic talangiectasia.
J Neurosurg 2000; 92:779-84

1999

Mager JJ, Mauser HW, Westermann CJJ
Intracraniële arterioveneuze malformatie bij zwangere vrouwen
Ned Tijdschr Geneeskd 1999; 143:1116

1998

Gallione CJ, Klaus DJ, Yeh EY, Stenzel TT, Xue Y, Anthony KB, McAllister KA, Baldwin MA, Berg JN, Lux A, Smith JD, Vary CP, Craigen WJ, Westermann CJJ, Warner ML, Miller YE, Jackson EC, Guttmacher AE, Marchuk DA. 
Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles
Hum Mutat. 1998; 11:286-294

1996

Haitjema Tj, Balder W, Disch FJM, Westermann CJJ
Epistaxis in hereditary haemorrhagic telangiectasia
Rhinology 1996; 34:176-8

Haitjema Tj, Westermann CJJ, Overtoom TTjC, Timmer R, Disch FJM, Mauser HW, Lammers j-WJ Hereditary hemorrhagic tlangiectasia (Osler-Weber-Rendu disease). New insights in pathogenesis, complications, and treatment
Arch Intern Med 1996; 156:714-9

Haitjema Tj, Berg JM ten, Overtoom TTjC, Ernst JMPG, Westermann CJJ
Unusual complications after embolization of a pulmonary arteriovenous malformation.
Chest 1996; 109:1401-4

Haitjema Tj, Snippenburg R van, Disch FJM, Overtoom TTjC, Westermann CJJ
Recidiverende epistaxis: soms de ziekte van Rendu-Osler-Weber.
Ned Tijdschr Geneeskd 1996; 140:2157-60

Haitjema Tj, Westermann CJJ, Overtoom TTjC
Letter to the editor
Arch Intern Med 1996; 156:2628

1995

Haitjema Tj
Hereditary hemorrhagic telangiectasia
Proefschrift 1995, Utrecht

Haitjema Tj, Disch F, Overtoom TTjC, Westermann CJJ, Lammers J-WJ
Screening family members of patients with hereditary hemorrhagic teleangiectasia
Am J Med 1995; 99:519-524 

Haitjema Tj, Overtoom TTjC, Westermann CJJ, Lammers J-WJ
Embolization of pulmonary arteriovenous malformations - results and follow-up in 32 patients
Thorax 1995; 50:719-723 

Haitjema Tj, Westermann CJJ
Is aanvullend onderzoek altijd een aanvulling bij vermoeden van paradoxe embolie?
Ned T Geneeskd 1995; 139:1105

1994

McAllister KA, Grogg KM, Johnson DW, Gallione CJ, Baldwin MA, Jackson CE, Helmbold EA, Markel DS, McKinnon WC, Murrell J, McCormick MK, Perical-Vance MA, Heutink P, Oostra BA, Haitjema Tj, Westermann CJJ, Porteous ME, Guttmacher AE, Letarte M, Marchuk DA

Endoglin, a TGF-? binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1.
Nature Genetics 1994; 8:345-51 
Westermann CJJ

Hereditary Hemorrhagic Telangiectasia in people of African descent
Bulletin HHT Foundation 1994; 11 
Heutink P, Haitjema T, Breedveld GJ, Janssen B, Sandkuyl LA, Bontekoe CJM, Westermann CJJ, Oostra BA

Linkage of hereditary haemorrhagic telangiectasia to chromosome 9q34 and evidence of locus heterogeneity
J Med Genet 1994; 31: 933-6

1993

Haitjema Tj, Westermann CJJ, Overtoom TTjC
Embolisation of pulmonary arteriovenous malformations
Chest 1993; 103:191S

Berg JWM ter, Dippel DWJ, Habbema JDF, Westermann CJJ, Tulleken CAF, Willemse J
Unruptured intracranial arteriovenous malformations with hereditary haemorrhagic telangiectasia
Acta Neurochir 1993; 121:34-42 

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