VASCERN

Rare multisystemic vascular diseases include disorders which affect all types of blood vessels, with consequences for several bodily systems. These diseases require a multidisciplinary approach to care.

VASCERN comprises five Rare Diseases Working Groups: Hereditary Haemorrhagic Telangiectasia (HHT-WG), Heritable Thoracic Aortic Diseases (HTAD-WG), Medium Sized Arteries (vascular Ehlers Danlos Syndrome) (MSA-WG), Paediatric and Primary Lymphedema (PPL-WG) and Vascular Anomalies (VASCA-WG). A dedicated Patient-WG enables patient representatives to be involved in all activities of the ERN. In addition, several Thematic Working Groups are established to address communication, eHealth, ethics, patient registry, and training & education.

Networking, sharing and spreading expertise, promoting best practices, guidelines and clinical outcomes, patient empowerment, and improving knowledge through clinical and basic research are among VASCERN’s objectives.

Health professionals involved in VASCERN will give lectures on their areas of expertise and make educational materials available online. One-week fellowships will be set up to allow EU students to learn more about these rare presentations, and knowledge will be shared through the network and with health professionals not covered by the ERN.

Contact information

Publications

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Below an overview is given of scientific publications related to VASCERN. Publications were obtained from the PubMed database. All publications where one of the authors has an affiliation link where "VASCERN" is mentioned, are added to the publication overview automatically. Updates are performed once a week.

Filter list publications

TitleAuthorsDateKeywordsIssue name
Infliximab versus Cyclophosphamide for Severe Behçet's Syndrome.Saadoun D, Maalouf G, Vieira M, Trad S, Lazaro E, Sacre K, Plessier A, Sené T, Koné-Paut I, Noel N, Mekinian A, Lambert M, Ribeiro E, Mirault T, Mele N, Dellal A, Fain O, Melki I, Chiche L, Gaudric J, Redheuil A, Maillart E, Ghembaza A, Desbois AC, Mirouse A, Domont F, Leroux G, Ferfar Y, Rigolet A, Viallard JF, Vautier M, Resche-Rigon M, Cacoub P2024-11-01NEJM evidence
Blue rubber bleb nevus syndrome: A European multicenter cohort study.Becq A, Bisdorff A, Riccioni ME, Blaise S, Mallet S, Toth E, Maruani A, Despott E, Labreze C, Cortegoso Valdivia P, Rondonotti E, Carrretero Ribón C, Goffinet L, Coffin E, Rosa B, Medlij C, Saurin JC, Dray X2024-10-18Blue rubber bleb nevus syndrome, Gastrointestinal bleeding, Gastrointestinal endoscopy, Sirolimus, Vascular malformationsDigestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver
Non-Hotspot PIK3CA Variants Have Higher Variant Allele Frequency and are More Common in Syndromic Vascular Malformations.Andreoti TA, Maiolo M, Tuleja A, Döring Y, Schaller A, Vassella E, Boon LM, Baumgartner I, Bernhard SM, Zweier C, Vikkula M, Rössler J2024-10-07PIK3CA, PI3K, pathogenic variant, somatic mutation, vascular malformationAmerican journal of medical genetics. Part A
Correction to: Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA.Revencu N, Eijkelenboom A, Bracquemart C, Alhopuro P, Armstrong J, Baselga E, Cesario C, Dentici ML, Eyries M, Frisk S, Karstensen HG, Gene-Olaciregui N, Kivirikko S, Lavarino C, Mero IL, Michiels R, Pisaneschi E, Schönewolf-Greulich B, Wieland I, Zenker M, Vikkula M2024-10-07Orphanet journal of rare diseases
Late diagnosis of Marfan syndrome is associated with unplanned aortic surgery and cardiovascular death.Claus J, Schoof L, Mir TS, Kammal AL, Schön G, Kutsche K, Behrendt CA, Kallenbach K, Kölbel T, Kubisch C, Demal TJ, Petersen J, Brickwedel J, Hübler M, Detter C, Kirchhof P, Debus ES, Rybczynski M, von Kodolitsch Y2024-09-19Aorta, Aortic Dissection, Delayed Diagnosis, Marfan Syndrome, ThoracicThe Journal of thoracic and cardiovascular surgery
Vascular Anomalies and Congenital Infiltrating Lipomatosis May Affect Dental Maturation and Development - a Case Control Study.Leinonen S, Vuola P, Rice DP, Heliövaara A2024-09-12congenital infiltrating lipomatosis‌, dental anomalies, dental development, dental occlusion, vascular anomaliesThe Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
Injectable chitosan hydrogel effectively controls lesion growth in a venous malformation murine model.Nguyen HL, Holderbaum Do Amaral R, Lerouge S, De Roo AK, Zehtabi F, Vikkula M, Soulez G2024-08-02Chitosan hydrogel, Mice, Sclerosis, Sodium tetradecyl sulfate, Vascular malformationDiagnostic and interventional imaging
Targeted treatments for vascular malformations: current state of the art.Seront E, Hermans C, Boon LM, Vikkula M2024-08-02angiogenesis inhibitor, anticoagulation, sirolimus, targeted therapy, thalidomideJournal of thrombosis and haemostasis : JTH
Hip Dysplasia in a Context of Blue Rubber Bleb Nevus Syndrome, 5-years Follow-up after Hip Arthroplasty.Popescu D, Chalon T, Boon LM, Docquier PL, Cauter MV2024-08-01Blue rubber bleb nevus syndrome, hip dysplasia, total hip arthroplasty, trendelenburg gait, venous malformationJournal of orthopaedic case reports
Reliability, concurrent validity, and clinical feasibility of measurement methods determining volume in patients with lower limb lymphedema and healthy controls.Heroes AK, Devoogdt N, Damstra RJ, Fourneau I, Gordon K, Keeley V, Thomis S, Van Calster C, Van Zanten M, De Vrieze T2024-07-08Lymphedema, assessment, clinical feasibility, concurrent validity, reliability, volumeDisability and rehabilitation
Somatic RIT1 delins in arteriovenous malformations hyperactivate RAS-MAPK signaling amenable to MEK inhibition.Kapp FG, Bazgir F, Mahammadzade N, Mehrabipour M, Vassella E, Bernhard SM, Döring Y, Holm A, Karow A, Seebauer C, Platz Batista da Silva N, Wohlgemuth WA, Oppenheimer A, Kröning P, Niemeyer CM, Schanze D, Zenker M, Eng W, Ahmadian MR, Baumgartner I, Rössler J2024-07-05Arteriovenous malformation, RAS-MAPK pathway, RIT1, Trametinib, Vascular anomalies, Vascular malformationAngiogenesis
Arterial aneurysm and dissection: toward the evolving phenotype of Tatton-Brown-Rahman syndrome.Totten V, Teixido-Tura G, Lopez-Grondona F, Fernandez-Alvarez P, Lasa-Aranzasti A, Muñoz-Cabello P, Kosaki R, Tizzano EF, Dewals W, Borràs E, Cañas EG, Almoguera B, Loeys B, Valenzuena I2024-07-02Aneurysm, Cardiovascular Diseases, Exome SequencingJournal of medical genetics
Increased Risk for Infections and Allergic Disease in Hereditary Hemorrhagic Telangiectasia.Droege F, König J, Lang KS, Jablonska J, Pylaeva E, Huckenbeck C, Wrobeln A, Duerig I, Thangavelu K, Lang S, Geisthoff U2024-06-27allergies, hereditary hemorrhagic telangiectasia, infections, pulmonary arteriovenous malformationJournal of clinical medicine
Hepatic manifestations of hereditary haemorrhagic telangiectasia.Kelly C, Buscarini E, Manfredi G, Gregory S, Heneghan MA2024-06-07VEGF, angiogenesis, hereditary haemorrhagic telangiectasia, liver transplantation, vascular malformationLiver international : official journal of the International Association for the Study of the Liver
Loss-of-function mutations of the TIE1 receptor tyrosine kinase cause late-onset primary lymphedema.Brouillard P, Murtomäki A, Leppänen VM, Hyytiäinen M, Mestre S, Potier L, Boon LM, Revencu N, Greene A, Anisimov A, Salo MH, Hinttala R, Eklund L, Quéré I, Alitalo K, Vikkula M2024-05-30Genetic diseases, Genetics, Lymph, Mouse models, Vascular biologyThe Journal of clinical investigation
Operative Management of Intra-abdominal Lymphatic Malformations in Children: A Single Tertiary Center Experience.Hyvönen H, Aronniemi J, Salminen P, Kyrklund K2024-05-23Intraperitoneal, Lymphatic malformation, Macroscopic resection, SurgeryJournal of pediatric surgery
Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA.Revencu N, Eijkelenboom A, Bracquemart C, Alhopuro P, Armstrong J, Baselga E, Cesario C, Dentici ML, Eyries M, Frisk S, Karstensen HG, Gene-Olaciregui N, Kivirikko S, Lavarino C, Mero IL, Michiels R, Pisaneschi E, Schönewolf-Greulich B, Wieland I, Zenker M, Vikkula M2024-05-22ERN, Gene curation, ISSVA, Mosaic, Postzygotic, Precision medicine, Somatic, VASCERN-VASCA, Vascular malformationOrphanet journal of rare diseases
Targeted treatment in complex lymphatic anomaly: a case of synergistic efficacy of trametinib and sirolimus.Seront E, Froidure A, Revencu N, Dekeuleneer V, Clapuyt P, Dumitriu D, Vikkula M, Boon LM2024-05-16Complex lymphatic anomaly, Infection, Lymphedema, Sirolimus, Trametinib, VASEOrphanet journal of rare diseases
Has Propranolol Eradicated the Need for Surgery in the Management of Infantile Hemangioma?Coulie J, Dekeuleneer V, Gerdom A, Roggen M, Bataille AC, Moniotte S, Coyette M, De Roo AK, Boon LM2024-05-13Plastic and reconstructive surgery
Getting your DUCs in a row - standardising the representation of Digital Use Conditions.Jeanson F, Gibson SJ, Alper P, Bernier A, Woolley JP, Mietchen D, Strug A, Becker R, Kamerling P, Sanchez Gonzalez MDC, Mah N, Novakowski A, Wilkinson MD, Benhamed OM, Landi A, Krog GP, Müller H, Riaz U, Veal C, Holub P, van Enckevort E, Brookes AJ2024-05-08Scientific data
Common conditions of use elements. Atomic concepts for consistent and effective information governance.Sanchez Gonzalez MDC, Kamerling P, Iermito M, Casati S, Riaz U, Veal CD, Maini M, Jeanson F, Benhamed OM, van Enckevort E, Landi A, Mimouni Y, Le Cornec C, Coviello DA, Franchin T, Fusco F, Ramírez García JA, van der Zanden LFM, Bernier A, Wilkinson MD, Mueller H, Gibson SJ, Brookes AJ2024-05-08Scientific data
Congenital Vascular Malformations in Children: From Historical Perspective to a Multidisciplinary Approach in the Modern Era-A Comprehensive Review.Bouwman FCM, Verhoeven BH, Klein WM, Schultze Kool LJ, de Blaauw I2024-05-08arteriovenous malformations, congenital vascular malformations, health-related quality of life, lymphatic malformations, pediatric surgery, sclerotherapy, sirolimus, venous malformationsChildren (Basel, Switzerland)
Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function.Alpaslan M, Fastré E, Mestre S, van Haeringen A, Repetto GM, Keymolen K, Boon LM, Belva F, Giacalone G, Revencu N, Sznajer Y, Riches K, Keeley V, Mansour S, Gordon K, Martin-Almedina S, Dobbins S, Ostergaard P, Quere I, Brouillard P, Vikkula M2024-04-26hepatocyte growth factor, lymphatic system, primary lymphoedema, whole-exome sequencingHuman molecular genetics
Infantile hemangioma: the common and enigmatic vascular tumor.Holm A, Mulliken JB, Bischoff J2024-04-15The Journal of clinical investigation
Functional analysis of cell lines derived from SMAD3-related Loeys-Dietz syndrome patients provides insights into genotype-phenotype relation.de Wagenaar NP, van den Bersselaar LM, Odijk HJHM, Stefens SJM, Reinhardt DP, Roos-Hesselink JW, Kanaar R, Verhagen JMA, Brüggenwirth HT, van de Laar IMBH, van der Pluijm I, Essers J2024-03-27Loeys-Dietz syndrome, SMAD3, aneurysmsosteoarthritis syndrome, functional assayHuman molecular genetics
[Update of indications and techniques for the management of lymphedema after breast cancer surgery].Azuar AS, Uzan C, Mathelin C, Vignes S2024-03-01Breast cancer, Cancer du sein, Compression, Drainage, Lymphedema, Lymphœdème, Microchirurgie, MicrosurgeryGynecologie, obstetrique, fertilite & senologie
Direct oral anticoagulants and venous malformations: literature review and retrospective study of 29 patients.Lagneaux E, Boon LM, Revencu N, Vikkula M, Hermans C2024-03-01D-dimer, direct oral anticoagulant, localized intravascular coagulopathy, pain, venous malformationResearch and practice in thrombosis and haemostasis
Somatic Loss-of-Function PIK3R1 and Activating Non-hotspot PIK3CA Mutations Associated with Capillary Malformation with Dilated Veins (CMDV).De Bortoli M, Queisser A, Pham VC, Dompmartin A, Helaers R, Boutry S, Claus C, De Roo AK, Hammer F, Brouillard P, Abdelilah-Seyfried S, Boon LM, Vikkula M2024-02-29Endothelial, NGS, PI3K signaling, Somatic, ZebrafishThe Journal of investigative dermatology
There is insufficient evidence to lower the threshold for prophylactic aortic surgery.Milleron O, Eliahou L, Jondeau G2024-02-21European heart journal
Epilepsy with faint capillary malformation or reticulated telangiectasia associated with mosaic AKT3 pathogenic variants.De Bortoli M, Ivars M, Revencu N, Nassogne MC, Lavarino C, Paco S, Lammens M, Renders A, Dumitriu D, Helaers R, Boon LM, Baselga E, Vikkula M2024-02-06PI3K signaling, diagnosis, epilepsy, focal cortical dysplasia, genetic, somatic, vascular malformationAmerican journal of medical genetics. Part A
[Natriuretic peptides in the diagnosis and monitoring of heart failure].Berthelot E, Eliahou L, Jagu A, Damy T, Hanon O, Hulot JS, Meune C, Roig C, Roubille F, Sabouret P, Logeart D, Mewton N2024-02-01Heart Failure, Natriuretic PeptidesLa Revue du praticien
The VASCERN PPL working group patient pathway for primary and paediatric lymphoedema.Devoogdt N, Thomis S, Belva F, Dickinson-Blok J, Fourgeaud C, Giacalone G, Karlsmark T, Kavola H, Keeley V, Marques ML, Mansour S, Nissen CV, Nørregaard S, Oberlin M, Ručigaj TP, Somalo-Barranco G, Suominen S, Van Duinen K, Vignes S, Damstra R2024-02-01Diagnosis, Lymphedema, Management, Patient care, Primary, VASCERNEuropean journal of medical genetics
High risk of ischaemic stroke amongst patients with hereditary haemorrhagic telangiectasia.Kofoed MS, Tørring PM, Christensen AA, Lange B, Kjeldsen AD, Nielsen TH2024-02-01cerebral abscess, hereditary haemorrhagic telangiectasia, ischaemic cerebral stroke, pulmonary arteriovenous malformationsEuropean journal of neurology
Type A Aortic Dissection in a 24-Year-Old Patient With Kabuki Syndrome.Hasami NA, Ko K, Kempers MJE, van Kimmenade RRJ, Geuzebroek GSC2024-01-03Kabuki syndrome, Turner syndrome, bicuspid aortic valve, cardiovascular abnormalities, coarctation of the aorta, type A aortic dissectionJACC. Case reports
Mental Health of School-Aged Children Treated with Propranolol or Atenolol for Infantile Hemangioma and Their Parents.Hermans MM, Schappin R, de Laat PCJ, Mendels EJ, Breur JMPJ, Langeveld HR, Raphael MF, de Graaf M, Breugem CC, de Wildt SN, Okkerse JME, Pasmans SGMA, Rietman AB2024-01-01Adrenergic beta-antagonists, Long-term adverse effects, Parenting, Psychosocial functioning, Vascular tissue neoplasmsDermatology (Basel, Switzerland)
Gastrointestinal bleeding in patients with hereditary hemorrhagic telangiectasia: Long-term results of endoscopic treatment.Manfredi G, Crinò SF, Alicante S, Romeo S, Berté R, Gandolfi S, Spinazzola A, Fiini M, Forner P, Buscarini E2023-12-01RFA and ablative methods, Small bowel endoscopy, Small intestinal bleedingEndoscopy international open
Ureteropelvic junction obstruction with primary lymphoedema associated with CELSR1 variants.Alpaslan M, Mestré-Godin S, Lay A, Giacalone G, Helaers R, Adham S, Kovacsik H, Guillemard S, Mercier E, Boon L, Revencu N, Brouillard P, Quere I, Vikkula M2023-11-27Genetics, Hemic and Lymphatic Diseases, Human Genetics, Vascular DiseasesJournal of medical genetics
Nonfunctional TGF-β/ALK1/ENG signaling pathway supports neutrophil proangiogenic activity in hereditary hemorrhagic telangiectasia.Duerig I, Pylaeva E, Ozel I, Wainwright S, Thiel I, Bordbari S, Domnich M, Siakaeva E, Lakomek A, Toppe F, Schleupner C, Geisthoff U, Lang S, Droege F, Jablonska J2023-11-24ALK1, ENG, HHT, MMP9, angiogenesis, neutrophilsJournal of leukocyte biology
The bleeding diathesis in patients with hereditary haemorrhagic telangiectasia is not due to impaired platelet function.Lyster AL, Biørn SH, Kjeldsen AD, Nielsen C, Lange B, Fialla AD, Vinholt PJ2023-11-14Bleeding, Hereditary haemorrhagic telangiectasia, Platelet function, Primary haemostasisOrphanet journal of rare diseases
Preliminary results of the European multicentric phase III trial regarding sirolimus in slow-flow vascular malformations.Seront E, Van Damme A, Legrand C, Bisdorff-Bresson A, Orcel P, Funck-Brentano T, Sevestre MA, Dompmartin A, Quere I, Brouillard P, Revencu N, De Bortoli M, Hammer F, Clapuyt P, Dumitriu D, Vikkula M, Boon LM2023-11-08Angiogenesis, Clinical Trials, Genetic diseases, LymphomasJCI insight
Health-related quality of life in children with congenital vascular malformations.Bouwman FCM, Verhaak C, de Blaauw I, Kool LJS, Loo DMWMT, van Rooij IALM, van der Vleuten CJM, Botden SMBI, Verhoeven BH2023-11-01Arteriovenous malformations, Health-related quality of life, Lymphatic malformations, Sclerotherapy, Vascular malformations, Venous malformationsEuropean journal of pediatrics
Rare Genomic Copy Number Variants Implicate New Candidate Genes for Bicuspid Aortic Valve.Carlisle SG, Albasha H, Michelena H, Sabate-Rotes A, Bianco L, De Backer J, Mosquera LM, Yetman AT, Bissell MM, Andreassi MG, Foffa I, Hui DS, Caffarelli A, Kim YY, Guo DC, Citro R, De Marco M, Tretter JT, McBride KL, Milewicz DM, Body SC, Prakash SK2023-10-24medRxiv : the preprint server for health sciences
Correction to: Long-term neurocognitive functioning of children treated with propranolol or atenolol for infantile hemangioma.Hermans MM, Rietman AB, Schappin R, de Laat PCJ, Mendels EJ, Breur JMPJ, Langeveld HR, de Wildt SN, Breugem CC, de Graaf M, Raphael MF, Pasmans SGMA2023-09-01European journal of pediatrics
Progression of initially unilateral Moyamoya angiopathy in Caucasian Europeans.Strunk D, Diehl RR, Veltkamp R, Meuth SG, Kraemer M2023-09-01Bypass, European Caucasians, Moyamoya angiopathy, Progression, UnilateralJournal of neurology
Clinical phenotype of adolescent and adult patients with extracranial vascular malformation.Tuleja A, Bernhard S, Hamvas G, Andreoti TA, Rössler J, Boon L, Vikkula M, Kammer R, Haupt F, Döring Y, Baumgartner I2023-09-01Journal of vascular surgery. Venous and lymphatic disorders
Prognostic Factors for Long-term Aesthetic Outcome of Infantile Haemangioma Treated with Beta-blockers.Hermans MM, Pasmans SGMA, De Graaf M, Ragamin A, Mendels EJ, Breur JMPJ, Langeveld HR, Raphael MF, De Laat PCJ, De Wildt SN, Rietman AB, Breugem CC, Schappin R2023-08-30Acta dermato-venereologica
Novel Association of the NOTCH Pathway Regulator MIB1 Gene With the Development of Bicuspid Aortic Valve.Tessler I, Albuisson J, Piñeiro-Sabarís R, Verstraeten A, Kamber Kaya HE, Siguero-Álvarez M, Goudot G, MacGrogan D, Luyckx I, Shpitzen S, Levin G, Kelman G, Reshef N, Mananet H, Holdcraft J, Muehlschlegel JD, Peloso GM, Oppenheim O, Cheng C, Mazzella JM, Andelfinger G, Mital S, Eriksson P, Billon C, Heydarpour M, Dietz HC, Jeunemaitre X, Leitersdorf E, Sprinzak D, Blacklow SC, Body SC, Carmi S, Loeys B, de la Pompa JL, Gilon D, Messas E, Durst R2023-08-01JAMA cardiology
Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome.van Eeghen AM, Stemkens D, Fernández-Fructuoso JR, Maruani A, Hadzsiev K, van Balkom IDC2023-07-01Centre of expertise, Guideline, Intellectual disability, Organization of care, Phelan-McDermid syndromeEuropean journal of medical genetics
Outcome after surgical treatment of venous malformations of the hand in childhood.Gasparella P, Flucher C, Beqo BP, Schmidt B, Spendel S, Arneitz C, Till H, Haxhija EQ, Singer G2023-07-01Surgical resection, Vascular anomalies, Venous malformationsJournal of vascular surgery. Venous and lymphatic disorders
Generation of a Syngeneic Heterozygous ACVRL1(wt/mut) Knockout iPS Cell Line for the In Vitro Study of HHT2-Associated Angiogenesis.Xiang-Tischhauser L, Bette M, Rusche JR, Roth K, Kasahara N, Stuck BA, Bakowsky U, Wartenberg M, Sauer H, Geisthoff UW, Mandic R2023-06-10ACVRL1, HHT2, Morbus Osler, iPSCCells
The VASCERN-VASCA Working Group Diagnostic and Management Pathways for Venous Malformations.Dompmartin A, Baselga E, Boon LM, Diociaiuti A, Dvorakova V, El Hachem M, Gasparella P, Haxhija E, Ghaffarpour N, Kyrklund K, Irvine AD, Kapp FG, Rößler J, Salminen P, van den Bosch C, van der Vleuten C, Schultze Kool L, Vikkula M2023-06-01rare disease, vascular anomalies, venous malformationJournal of vascular anomalies
Impact of SARS-CoV-2 infection in patients with hereditary hemorrhagic telangiectasia: epidemiological and clinical data from the comprehensive Italian retrospective multicenter study.Suppressa P, Maiorano E, Gaetani E, Matti E, Lenato GM, Serio I, Masala MS, Passali GC, Aguglia M, Crocione C, Lopalco PL, Caneschi F, Musella V, De Silvestri A, Gambini G, Spinozzi G, Sabbà C, Pagella F2023-06-01Arteriovenous malformation, COVID-19, Hereditary hemorrhagic telangiectasia, Rare diseases, SARS-CoV-2 infectionInternal and emergency medicine
Consensus recommendations on lymphedema in Phelan-McDermid syndrome.Damstra RJ, Vignes S, Mansour S2023-06-01Lymphedema, Paediatric-treatment, Phelan-McDermid syndrome, Primary, ReviewEuropean journal of medical genetics
Complex Lymphatic Anomalies: Report on a Patient Registry Using the Latest Diagnostic Guidelines.Andreoti TA, Berg S, Holm A, Angerer M, Oberlin M, Foeldi E, Baumgartner I, Niemeyer CM, Rössler J, Kapp FG2023-06-01Gorham-Stout disease, central conducting lymphatic anomaly, complex lymphatic anomaly, generalized lymphatic anomaly, kaposiform lymphangiomatosis, lymphatic malformationLymphatic research and biology
A case report of sirolimus use in early fetal management of lymphatic malformation.Seront E, Biard JM, Van Damme A, Revencu N, Lengelé B, Schmitz S, de Toeuf C, Clapuyt P, Veyckemans F, Prégardien C, Vikkula M, Bernard P, Boon LM2023-06-01Nature cardiovascular research
ErbB signaling is a potential therapeutic target for vascular lesions with fibrous component.Jauhiainen S, Ilmonen H, Vuola P, Rasinkangas H, Pulkkinen HH, Keränen S, Kiema M, Liikkanen JJ, Laham-Karam N, Laidinen S, Beter M, Aavik E, Lappalainen K, Lohi J, Aronniemi J, Örd T, Kaikkonen MU, Salminen P, Tukiainen E, Ylä-Herttuala S, Laakkonen JP2023-05-18PIK3CA p.H1047R, TGFA, afatinib, angiomatosis of soft tissue, cell biology, fibroblasts, human, medicine, mouse, stromal cells, venous malformationeLife
Clinical differences in sirolimus treatment with low target levels between children and adults with vascular malformations - A nationwide trial.Harbers VEM, Zwerink LGJM, Rongen GA, Klein WM, van der Vleuten CJM, van Rijnsoever IMP, Gerdsen-Drury L, Flucke UE, Verhoeven BH, de Laat PCJ, van der Horst CMAM, Schultze Kool LJ, Te Loo DMWM2023-05-01Clinical and translational science
Multimodality imaging in thoracic aortic diseases: a clinical consensus statement from the European Association of Cardiovascular Imaging and the European Society of Cardiology working group on aorta and peripheral vascular diseases.Evangelista A, Sitges M, Jondeau G, Nijveldt R, Pepi M, Cuellar H, Pontone G, Bossone E, Groenink M, Dweck MR, Roos-Hesselink JW, Mazzolai L, van Kimmenade R, Aboyans V, Rodríguez-Palomares J2023-04-24aorta, aortic aneurysm, aortic syndrome, imagingEuropean heart journal. Cardiovascular Imaging
Primary Non-Aortic Lesions Are Not Rare in Marfan Syndrome and Are Associated with Aortic Dissection Independently of Age.Sénémaud J, Gaudry M, Jouve E, Blanchard A, Milleron O, Dulac Y, Olivier-Faivre L, Stephan D, Odent S, Lanéelle D, Dupuis-Girod S, Jondeau G, Bal-Theoleyre L2023-04-17Marfan syndrome, aortic dissection, ectasia, non-aortic aneurysmJournal of clinical medicine
Assessment of Takayasu's arteritis activity by ultrasound localization microscopy.Goudot G, Jimenez A, Mohamedi N, Sitruk J, Khider L, Mortelette H, Papadacci C, Hyafil F, Tanter M, Messas E, Pernot M, Mirault T2023-04-01Contrast-enhanced ultrasound, Disease activity, Microvessels, Super-resolution imaging, Takayasu arteritisEBioMedicine
Prevalence and Complications of Aberrant Subclavian Artery in Patients With Heritable and Nonheritable Arteriopathies.Giuliani L, Di Toro A, Urtis M, Narula N, Grasso M, Pelenghi S, Belliato M, Bozzani A, Arici V, Pellegrini C, Serio A, Pilotto A, Fergnani V, Antoniazzi E, Magrassi L, Dore R, Valentini A, Preda L, Calliada F, Quaretti P, Pirrelli S, Kodama T, Vricella L, Cameron D, Arbustini E2023-03-14Loeys-Dietz syndrome, Lusoria, Marfan syndrome, aberrant subclavian artery, dissection, genetic arteriopathiesJournal of the American College of Cardiology
[Respiratory manifestations of Ehlers-Danlos syndromes].Benattia A, Benistan K, Frank M, Boussouar S2023-03-01Dyspnea, Dyspnée, Ehlers-Danlos syndrome, Fonction respiratoire, Pneumothorax, Pulmonary function, Respiration, Respiratory, Syndromes d’Ehlers-DanlosRevue des maladies respiratoires
Subcutaneous Granuloma Annulare vs. Subcutaneous Vascular Malformations in Children: A Diagnostic Challenge.Beqo BP, Gasparella P, Flucher C, Tschauner S, Brcic I, Haxhija EQ2023-02-11children, granuloma annulare, low-flow subcutaneous vascular malformations, lymphatic malformations, self-limiting, subcutaneous granuloma annulare, venous malformationsChildren (Basel, Switzerland)
A severe case of PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome associated with several arterial and venous complications: A case report.Foy M, Métay C, Frank M, Denarié N, Adham S, Billon C, Legrand A, Jeunemaitre X, Gillas F, Gaudon K, De Mazancourt P, Mekki A, Carlier R, Benistan K2023-02-01PLOD1 gene, case report, kyphoscoliotic Ehlers–Danlos syndrome, vascular complicationsClinical case reports
Long-term neurocognitive functioning of children treated with propranolol or atenolol for infantile hemangioma.Hermans MM, Rietman AB, Schappin R, de Laat PCJ, Mendels EJ, Breur JMPJ, Langeveld HR, de Wildt SN, Breugem CC, de Graaf M, Raphael MF, Pasmans SGMA2023-02-01Adrenergic beta-antagonists, Capillary hemangioma, Child, Cognition, Executive function, Infant, Long-term adverse effects, Neurocognitive disorders, Neuropsychological tests, Vascular malformations, Vascular tissue neoplasms, Wechsler scalesEuropean journal of pediatrics
Trametinib as a promising therapeutic option in alleviating vascular defects in an endothelial KRAS-induced mouse model.Nguyen HL, Boon LM, Vikkula M2023-01-06Human molecular genetics
Pediatric vascular anomalies in Austria. Where are we at? A survey among primary care pediatricians.Gasparella P, Senica SO, Singer G, Banfi C, Flucher C, Beqo BP, Till H, Haxhija EQ2023-01-01health organization, infantile hemangioma, patient journey, rare conditions, vascular anomaliesFrontiers in pediatrics
Magnitude and relevance of change in health-related quality of life in patients with vascular malformations treated with sirolimus.Harbers VEM, Bouwman FCM, van Rijnsoever IMP, Verhoeven BH, van der Vleuten CJM, Schultze Kool LJ, de Laat PCJ, van der Horst CMAM, Kievit W, Te Loo DMWM2023-01-01PedsQL: pediatric quality of life inventory, SF-36: 36-item short form health survey, quality of life, sirolimus (rapamycin), vascular malformationFrontiers in medicine
Nationwide Awareness Campaign and Call for Dental Screening for Hereditary Hemorrhagic Telangiectasia in Germany.Geisthoff UW, Hölzle F, Stuck BA, Jackowski J, Hand Goetz C, Grabowski C, Droege F2023-01-01International journal of dentistry
HTAD patient pathway: Strategy for diagnostic work-up of patients and families with (suspected) heritable thoracic aortic diseases (HTAD). A statement from the HTAD working group of VASCERN.Caruana M, Baars MJ, Bashiardes E, Benke K, Björck E, Codreanu A, de Moya Rubio E, Dumfarth J, Evangelista A, Groenink M, Kallenbach K, Kempers M, Keravnou A, Loeys B, Muiño-Mosquera L, Nagy E, Milleron O, Nistri S, Pepe G, Roos-Hesselink J, Szabolcs Z, Teixidó-Tura G, Timmermans J, Van de Laar I, van Kimmenade R, Verstraeten A, Von Kodolitsch Y, De Backer J, Jondeau G2023-01-01Familial thoracic aortic aneurysm and dissection, Loeys-dietz syndrome, Marfan syndrome, Thoracic aortic aneurysmEuropean journal of medical genetics
Biallelic ANGPT2 loss-of-function causes severe early-onset non-immune hydrops fetalis.Smeland MF, Brouillard P, Prescott T, Boon LM, Hvingel B, Nordbakken CV, Nystad M, Holla ØL, Vikkula M2023-01-01female urogenital diseases and pregnancy complications, genetics, loss of function mutation, medicalJournal of medical genetics
Comprehensive Analyses of Coagulation Parameters in Patients with Vascular Anomalies.Kapp FG, Schneider C, Holm A, Glonnegger H, Niemeyer CM, Rößler J, Zieger B2022-12-08Kasabach–Merritt phenomenon, coagulopathy, localized intravascular coagulopathy, platelet function, vascular anomalies, von Willebrand factorBiomolecules
Marfan's syndrome with anterior sacral pseudomeningocele.Nguyen C, Jondeau G2022-12-01Oxford medical case reports
The VASCERN-VASCA working group diagnostic and management pathways for lymphatic malformations.Ghaffarpour N, Baselga E, Boon LM, Diociaiuti A, Dompmartin A, Dvorakova V, El Hachem M, Gasparella P, Haxhija E, Kyrklund K, Irvine AD, Kapp FG, Rößler J, Salminen P, van den Bosch C, van der Vleuten C, Kool LS, Vikkula M2022-12-01Alpelisib, Interventional radiology, Lymphatic malformation, Management, PIK3CA, Patient pathway, Sclerotherapy, Sirolimus, Surgery, Treatment algorithm, Vascular malformationEuropean journal of medical genetics
Long-term outcomes of lymphatic malformations in children: An 11-year experience from a tertiary referral center.Hyvönen H, Salminen P, Kyrklund K2022-12-01Lymphatic malformation, Sclerotherapy, Spontaneous resolution, Surgery, TreatmentJournal of pediatric surgery
Skin and mucosal telangiectatic lesions in hereditary hemorrhagic telangiectasia patients.Hyldahl SJ, El-Jaji MQ, Schuster A, Kjeldsen AD2022-12-01International journal of dermatology
Molecular pathways and possible therapies for head and neck vascular anomalies.Coulie J, Boon L, Vikkula M2022-11-01PI3K/AKT/mTOR (PIKopathies), RAS/RAF/MEK/ERK (RASopathies), theragnostic treatment, vascular anomaliesJournal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology
European Reference Network for Rare Vascular Diseases (VASCERN): When and how to use intravenous bevacizumab in Hereditary Haemorrhagic Telangiectasia (HHT)?Dupuis-Girod S, Shovlin CL, Kjeldsen AD, Mager HJ, Sabba C, Droege F, Fargeton AE, Fialla AD, Gandolfi S, Hermann R, Lenato GM, Manfredi G, Post MC, Rennie C, Suppressa P, Sure U, Buscarini E2022-10-01Anaemia, Bevacizumab, Digestive bleeding, Hereditary haemorrhagic telangiectasia, Iron deficiency, NosebleedsEuropean journal of medical genetics
Safety of reduced or absent antithrombotic therapy after left atrial appendage closure in patients affected by hereditary hemorrhagic telangiectasia and atrial fibrillation.Pepe M, Suppressa P, Giuliano AF, Nestola PL, Bortone AS, DE Cillis E, Acquaviva T, Forleo C, Moscarelli M, Lenato GM, Sabbà C2022-10-01Minerva cardiology and angiology
Angiotensin receptor blockers and β blockers in Marfan syndrome: an individual patient data meta-analysis of randomised trials.Pitcher A, Spata E, Emberson J, Davies K, Halls H, Holland L, Wilson K, Reith C, Child AH, Clayton T, Dodd M, Flather M, Jin XY, Sandor G, Groenink M, Mulder B, De Backer J, Evangelista A, Forteza A, Teixido-Turà G, Boileau C, Jondeau G, Milleron O, Lacro RV, Sleeper LA, Chiu HH, Wu MH, Neubauer S, Watkins H, Dietz H, Baigent C2022-09-10Lancet (London, England)
Surveillance and monitoring in vascular Ehlers-Danlos syndrome in European Reference Network For Rare Vascular Diseases (VASCERN).van de Laar IMBH, Baas AF, De Backer J, Blankenstein JD, Dulfer E, Helderman-van den Enden ATJM, Houweling AC, Kempers MJ, Loeys B, Malfait F, Robert L, Tanteles G, Frank M2022-09-01European journal of medical genetics
Comparative Risks of Initial Aortic Events Associated With Genetic Thoracic Aortic Disease.Regalado ES, Morris SA, Braverman AC, Hostetler EM, De Backer J, Li R, Pyeritz RE, Yetman AT, Cervi E, Shalhub S, Jeremy R, LeMaire S, Ouzounian M, Evangelista A, Boileau C, Jondeau G, Milewicz DM2022-08-30Loeys-Dietz syndrome, aortic dissection, pathogenic variant, precision medicine, thoracic aortic aneurysmJournal of the American College of Cardiology
Translational Medicine: Towards Gene Therapy of Marfan Syndrome.Kallenbach K, Remes A, Müller OJ, Arif R, Zaradzki M, Wagner AH2022-07-06TGF-β, aorta, aortic surgery, gene therapy, marfan syndrome, translational therapyJournal of clinical medicine
The VASCERN-VASCA working group diagnostic and management pathways for severe and/or rare infantile hemangiomas.Diociaiuti A, Baselga E, Boon LM, Dompmartin A, Dvorakova V, El Hachem M, Gasparella P, Haxhija E, Ghaffarpour N, Kyrklund K, Irvine AD, Kapp FG, Rößler J, Salminen P, van den Bosch C, van der Vleuten C, Kool LS, Vikkula M2022-06-01Algorithm, Diagnosis, Infantile hemangioma, LUMBAR/PELVIS/SACRAL syndrome, Large segmental hemangiomas, Management, Multifocal hemangiomas, PHACES syndromeEuropean journal of medical genetics
Arrhythmia and impaired myocardial function in heritable thoracic aortic disease: An international retrospective cohort study.Demolder A, Bianco L, Caruana M, Cervi E, Evangelista A, Jondeau G, Buttigieg LL, López-Sainz Á, Delmás EM, Pini A, Sabaté-Rotés A, Szöcs K, Tchitchinadze M, Teixidó-Tura G, von Kodolitsch Y, Muiño-Mosquera L, De Backer J2022-06-01European journal of medical genetics
Somatic TEK variant with intraarticular venous malformation and knee hemarthrosis treated with rapamycin.Adham S, Revencu N, Mestre S, Nou-Howaldt M, Vernhet-Kovacsik H, Quéré I2022-06-01TEK/TIE2, genetics, rapamycin, vascular malformation, venous malformationMolecular genetics & genomic medicine
Case report study of thalidomide therapy in 18 patients with severe arteriovenous malformations.Boon LM, Dekeuleneer V, Coulie J, Marot L, Bataille AC, Hammer F, Clapuyt P, Jeanjean A, Dompmartin A, Vikkula M2022-06-01Nature cardiovascular research
Interpretation and actionability of genetic variants in cardiomyopathies: a position statement from the European Society of Cardiology Council on cardiovascular genomics.Arbustini E, Behr ER, Carrier L, van Duijn C, Evans P, Favalli V, van der Harst P, Haugaa KH, Jondeau G, Kääb S, Kaski JP, Kavousi M, Loeys B, Pantazis A, Pinto Y, Schunkert H, Di Toro A, Thum T, Urtis M, Waltenberger J, Elliott P2022-05-21Cardiomyopathies, Genetic variant, Interpretation, Pathogenicity, Variants of uncertain significance (VUS)European heart journal
PIK3CA-related overgrowth with an uncommon phenotype: case report.Rotunno R, Diociaiuti A, Pisaneschi E, Carnevale C, Dentici M, El Hachem M2022-05-12Megalencephaly-capillary malformation, PIK3CA, PhenotypeItalian journal of pediatrics
Atypical variants in COL1A1 and COL3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes: expanding the clinical phenotype based on additional case reports.Colman M, Castori M, Micale L, Ritelli M, Colombi M, Ghali N, Van Dijk F, Marsili L, Weeks A, Vandersteen A, Rideout A, Legrand A, Frank M, Mirault T, Ferraris A, Di Giosaffatte N, Grammatico P, Grunert J, Frank C, Symoens S, Syx D, Malfait F2022-05-01Clinical and experimental rheumatology
[Interdisciplinary management of extracranial vascular anomalies].Geisthoff U, Mahnken AH, Knaus P, Schnittler HJ, Stuck BA, Knöppel C2022-05-01Arteriovenous malformations, Hemangioma, Hereditary hemorrhagic telangiectasia, Lymphangioma, Vascular malformationsHNO
Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema.Byrne AB, Brouillard P, Sutton DL, Kazenwadel J, Montazaribarforoushi S, Secker GA, Oszmiana A, Babic M, Betterman KL, Brautigan PJ, White M, Piltz SG, Thomas PQ, Hahn CN, Rath M, Felbor U, Korenke GC, Smith CL, Wood KH, Sheppard SE, Adams DM, Kariminejad A, Helaers R, Boon LM, Revencu N, Moore L, Barnett C, Haan E, Arts P, Vikkula M, Scott HS, Harvey NL2022-03-02Science translational medicine
The VASCERN European Reference Network: An overview.Jondeau G, Hallac J, Hurard M, Daoud K, Barr N, Domnez I2022-03-01European reference network, HHT, Heritable thoracic aortic disease, Lymphatic anomalies, Vascular anomalies, Vascular ehlers danlosEuropean journal of medical genetics
Publisher Correction: Marfan syndrome.Milewicz DM, Braverman AC, De Backer J, Morris SA, Boileau C, Maumenee IH, Jondeau G, Evangelista A, Pyeritz RE2022-01-17Nature reviews. Disease primers
The European Rare Disease Network for HHT Frameworks for management of hereditary haemorrhagic telangiectasia in general and speciality care.Shovlin CL, Buscarini E, Sabbà C, Mager HJ, Kjeldsen AD, Pagella F, Sure U, Ugolini S, Torring PM, Suppressa P, Rennie C, Post MC, Patel MC, Nielsen TH, Manfredi G, Lenato GM, Lefroy D, Kariholu U, Jones B, Fialla AD, Eker OF, Dupuis O, Droege F, Coote N, Boccardi E, Alsafi A, Alicante S, Dupuis-Girod S2022-01-01European journal of medical genetics
Functional assessment of two variants of unknown significance in TEK by endothelium-specific expression in zebrafish embryos.Bell LM, Holm A, Matysiak U, Driever W, Rößler J, Schanze D, Wieland I, Niemeyer CM, Zenker M, Kapp FG2021-12-17Human molecular genetics
Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome.Billon C, Adham S, Hernandez Poblete N, Legrand A, Frank M, Chiche L, Zuily S, Benistan K, Savale L, Zaafrane-Khachnaoui K, Brehin AC, Bal L, Busa T, Fradin M, Quelin C, Chesneau B, Wahl D, Fergelot P, Goizet C, Mirault T, Jeunemaitre X, Albuisson J2021-12-04Aortic aneurysm and dissection, Cardiovascular anomalies, Connective tissue disorder, Ehlers–Danlos, FLNAOrphanet journal of rare diseases
Primary lymphoedema.Brouillard P, Witte MH, Erickson RP, Damstra RJ, Becker C, Quéré I, Vikkula M2021-10-21Nature reviews. Disease primers
Characterization of epidemiological distribution and outcome of COVID-19 in patients with hereditary hemorrhagic telangiectasia: a nationwide retrospective multi-centre study during first wave in Italy.Suppressa P, Pagella F, Lenato GM, Gaetani E, Serio I, Masala MS, Spinozzi G, Lizzio R, Matti E, De Silvestri A, Passali GC, Aguglia M, Crocione C, Sabbà C2021-09-08COVID-19, Hereditary hemorrhagic telangiectasia, PANDEMICS 2020, Rare diseases, SARS-CoV-2 infectionOrphanet journal of rare diseases
Marfan syndrome.Milewicz DM, Braverman AC, De Backer J, Morris SA, Boileau C, Maumenee IH, Jondeau G, Evangelista A, Pyeritz RE2021-09-02Nature reviews. Disease primers
Transpleural systemic artery-to-pulmonary artery communications in the absence of chronic inflammatory lung disease. A case series and review of the literature.Alsafi A, Shovlin CL, Jackson JE2021-09-01Clinical radiology
Minimal portosystemic encephalopathy: A new nosological entity in patients with hereditary haemorrhagic telangiectasia.Barone M, Suppressa P, Viggiani MT, Lenato GM, Scardapane A, Chiumarulo L, Ambrosini N, Leo AD, Sabbà C2021-08-01animal naming test., critical flicker frequency, hepatic vascular malformation, portosystemic shuntEuropean journal of internal medicine
Vascular Ehlers-Danlos syndrome (vEDS): CT and histologic findings of pleural and lung parenchymal damage.Boussouar S, Benattia A, Escudié JB, Gibault L, Capron F, Legrand A, Brillet PY, Jeunemaitre X, Grenier PA, Mousseaux E, Frank M, Sanchez O2021-08-01CT scan, Ehlers–Danlos syndrome, Hemothorax, Pneumothorax, Pulmonary emphysemaEuropean radiology
Severe adverse events during sirolimus "off-label" therapy for vascular anomalies.Rössler J, Baselga E, Davila V, Celis V, Diociaiuti A, El Hachem M, Mestre S, Haeberli D, Prokop A, Hanke C, Loichinger W, Quéré I, Baumgartner I, Niemeyer CM, Kapp FG2021-08-01severe adverse events, sirolimus, toxicity, vascular anomaliesPediatric blood & cancer
A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations.Canaud G, Hammill AM, Adams D, Vikkula M, Keppler-Noreuil KM2021-07-08Alpelisib, Miransertib, PI3K, PIK3CA, PROS, Sirolimus, Vascular malformationOrphanet journal of rare diseases
Clinical relevance of genotype-phenotype correlations beyond vascular events in a cohort study of 1500 Marfan syndrome patients with FBN1 pathogenic variants.Arnaud P, Milleron O, Hanna N, Ropers J, Ould Ouali N, Affoune A, Langeois M, Eliahou L, Arnoult F, Renard P, Michelon-Jouneaux M, Cotillon M, Gouya L, Boileau C, Jondeau G2021-07-01Genetics in medicine : official journal of the American College of Medical Genetics
Genetic Basis and Therapies for Vascular Anomalies.Queisser A, Seront E, Boon LM, Vikkula M2021-06-25endothelium, mutation, precision medicine, sirolimus, thalidomideCirculation research
Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations.Brouillard P, Schlögel MJ, Homayun Sepehr N, Helaers R, Queisser A, Fastré E, Boutry S, Schmitz S, Clapuyt P, Hammer F, Dompmartin A, Weitz-Tuoretmaa A, Laranne J, Pasquesoone L, Vilain C, Boon LM, Vikkula M2021-06-10Allele, Epidemiology, Frequency, Gene, Isolated, Lymphatic malformation, Mutation, PI3K, Somatic, TheragnosticOrphanet journal of rare diseases
Cutaneous venous malformations as a clue for possible gastrointestinal tract involvement: Diagnosis and treatment of six cases.Diociaiuti A, Rotunno R, Caldaro T, Rossi S, Carnevale C, Torroni F, Paolantonio G, Capriati T, El Hachem M2021-05-01ISSVA, gastrointestinal tract, skin, vascular anomalies, venous malformationsDermatologic therapy
Venous Malformations and Blood Coagulation in Children.Aronniemi J, Långström S, Mattila KA, Mäkipernaa A, Salminen P, Pitkäranta A, Pekkola J, Lassila R2021-04-20D-dimer, children, coagulation disturbances, coagulation factors, venous malformationChildren (Basel, Switzerland)
eHealth for patients with rare diseases: the eHealth Working Group of the European Reference Network on Rare Multisystemic Vascular Diseases (VASCERN).Paglialonga A, Gaetano R, Robert L, Hurard M, Botella LM, Barr N, Jondeau G, Pini A2021-04-08European commission 3rd health programme, European reference network, Knowledge exchange, Orphan diseases, Rare diseases, Telemedicine, Vascular diseases, eHealth, mHealthOrphanet journal of rare diseases
Lymphatic malformations in children: treatment outcomes of sclerotherapy in a large cohort.Bouwman FCM, Kooijman SS, Verhoeven BH, Schultze Kool LJ, van der Vleuten CJM, Botden SMBI, de Blaauw I2021-03-01Bleomycin, Lauromacrogol, Lymphatic malformation, Sclerotherapy, Vascular malformationEuropean journal of pediatrics
The Dynamic and Multifaceted Nature of Cardiovascular Disease and Using Genetic Testing to Inform Clinical Care: An International Perspective.Baudhuin LM, De Backer J, Ingles J, Milewicz DM, Tybjaerg-Hansen A2021-01-08Clinical chemistry
Human chromosome map of lymphedema-lymphangiogenesis genes: Template for current and future discovery.Witte MH, Erickson RP, Luy L, Brouillard P, Vikkula M2021-01-01chromosomes, genes, mutations, primary lymphedemaLymphology
Efficacy of Sirolimus in Patients Requiring Tracheostomy for Life-Threatening Lymphatic Malformation of the Head and Neck: A Report From the European Reference Network.Holm A, Te Loo M, Schultze Kool L, Salminen P, Celis V, Baselga E, Duignan S, Dvorakova V, Irvine AD, Boon LM, Vikkula M, Ghaffarpour N, Niemeyer CM, Rössler J, Kapp FG2021-01-01lymphatic malformation, rapamycin, sirolimus, tracheostoma, tracheostomy, vascular anomalyFrontiers in pediatrics
High output cardiac failure in 3 patients with hereditary hemorrhagic telangiectasia and hepatic vascular malformations, evaluation of treatment.Olsen LB, Kjeldsen AD, Poulsen MK, Kjeldsen J, Fialla AD2020-11-26Bevacizumab, HHT, Hepatic, Hereditary hemorrhagic telangiectasia, Right heart failure, Vascular endothelial growth factor inhibitorOrphanet journal of rare diseases
Marfan sartan saga, episode X.Jondeau G, Milleron O, Boileau C2020-11-14European heart journal
Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia.Shovlin CL, Simeoni I, Downes K, Frazer ZC, Megy K, Bernabeu-Herrero ME, Shurr A, Brimley J, Patel D, Kell L, Stephens J, Turbin IG, Aldred MA, Penkett CJ, Ouwehand WH, Jovine L, Turro E2020-10-22Blood
Genetics of vascular anomalies.Nguyen HL, Boon LM, Vikkula M2020-10-01Seminars in pediatric surgery
New and Emerging Targeted Therapies for Vascular Malformations.Van Damme A, Seront E, Dekeuleneer V, Boon LM, Vikkula M2020-10-01American journal of clinical dermatology
Creating the BELgian COngenital heart disease database combining administrative and clinical data (BELCODAC): Rationale, design and methodology.Ombelet F, Goossens E, Willems R, Annemans L, Budts W, De Backer J, De Groote K, Moniotte S, Van Bulck L, Marelli A, Moons P2020-10-01Belgium, Congenital heart disease, Database management systems, Health services researchInternational journal of cardiology
Shaving Technique and Compression Therapy for Elephantiasis Nostras Verrucosa (Lymphostatic Verrucosis) of Forefeet and Toes in End-Stage Primary Lymphedema: A 5 Year Follow-Up Study in 28 Patients and a Review of the Literature.Damstra RJ, Dickinson-Blok JL, Voesten HG2020-09-28compression, elephantiasis nostras verrucosis, garment, lymphostatic verrucosis, primary lymphedema, shaving, surgery, toecapsJournal of clinical medicine
Genetic counselling and testing in adults with congenital heart disease: A consensus document of the ESC Working Group of Grown-Up Congenital Heart Disease, the ESC Working Group on Aorta and Peripheral Vascular Disease and the European Society of Human Genetics.De Backer J, Bondue A, Budts W, Evangelista A, Gallego P, Jondeau G, Loeys B, Peña ML, Teixido-Tura G, van de Laar I, Verstraeten A, Roos Hesselink J2020-09-01Genetic testing, adult congenital heart disease, genetic counseling, heritable thoracic aortic diseaseEuropean journal of preventive cardiology
European Reference Network for Rare Vascular Diseases (VASCERN) position statement on cerebral screening in adults and children with hereditary haemorrhagic telangiectasia (HHT).Eker OF, Boccardi E, Sure U, Patel MC, Alicante S, Alsafi A, Coote N, Droege F, Dupuis O, Fialla AD, Jones B, Kariholu U, Kjeldsen AD, Lefroy D, Lenato GM, Mager HJ, Manfredi G, Nielsen TH, Pagella F, Post MC, Rennie C, Sabbà C, Suppressa P, Toerring PM, Ugolini S, Buscarini E, Dupuis-Girod S, Shovlin CL2020-06-29Orphanet journal of rare diseases
Applying the FAIR Data Principles to the Registry of Vascular Anomalies (VASCA).Dos Santos Vieira B, Groenen K, 't Hoen PAC, Jacobsen A, Roos M, Kaliyaperumal R, Kersloot M, Cornet R, Schultze Kool L2020-06-23health information interoperability, rare diseases, registriesStudies in health technology and informatics
Intra-articular venous malformation of the knee in children: magnetic resonance imaging findings and significance of synovial involvement.Mattila KA, Aronniemi J, Salminen P, Rintala RJ, Kyrklund K2020-04-01Children, Intra-articular, Knee, Magnetic resonance imaging, Synovium, Venous malformationPediatric radiology
Pathogenic FBN1 Genetic Variation and Aortic Dissection in Patients With Marfan Syndrome.Milleron O, Arnoult F, Delorme G, Detaint D, Pellenc Q, Raffoul R, Tchitchinadze M, Langeois M, Guien C, Beroud C, Ropers J, Hanna N, Arnaud P, Gouya L, Boileau C, Jondeau G2020-03-03FBN1, Marfan, aorta, diameter, dissectionJournal of the American College of Cardiology
Patient-recorded benefit from nasal closure in a Danish cohort of patients with hereditary haemorrhagic telangiectasia.Andersen JH, Kjeldsen AD2020-03-01Epistaxis, Glasgow Benefit Inventory, HHT, Hereditary hemorrhagic telangiectasia, Hht-center OUH, Nasal closureEuropean archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery
A Clinical Feasibility Study to Image Angiogenesis in Patients with Arteriovenous Malformations Using 68Ga-RGD PET/CT.Lobeek D, Bouwman FCM, Aarntzen EHJG, Molkenboer-Kuenen JDM, Flucke UE, Nguyen HL, Vikkula M, Boon LM, Klein W, Laverman P, Oyen WJG, Boerman OC, Terry SYA, Schultze Kool LJ, Rijpkema M2020-02-01PET/CT, RGD, angiogenesis, arteriovenous malformation, integrin αvβ3Journal of nuclear medicine : official publication, Society of Nuclear Medicine
RASA1 mosaic mutations in patients with capillary malformation-arteriovenous malformation.Revencu N, Fastre E, Ravoet M, Helaers R, Brouillard P, Bisdorff-Bresson A, Chung CWT, Gerard M, Dvorakova V, Irvine AD, Boon LM, Vikkula M2020-01-01RASA1, capillary malformation-arteriovenous malformation, mosaic mutation, second hitJournal of medical genetics
Features of Marfan syndrome not listed in the Ghent nosology - the dark side of the disease.von Kodolitsch Y, Demolder A, Girdauskas E, Kaemmerer H, Kornhuber K, Muino Mosquera L, Morris S, Neptune E, Pyeritz R, Rand-Hendriksen S, Rahman A, Riise N, Robert L, Staufenbiel I, Szöcs K, Vanem TT, Linke SJ, Vogler M, Yetman A, De Backer J2019-12-01FBN1, Ghent nosology, Marfan syndrome, adiposity, aortic valve, arrhythmia, dental, hemostasis, lung, manifestations, mitral valve, muscle, myocardium, psychology, skeleton, sleep, urogenital, vascularExpert review of cardiovascular therapy
European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants.van de Laar IMBH, Arbustini E, Loeys B, Björck E, Murphy L, Groenink M, Kempers M, Timmermans J, Roos-Hesselink J, Benke K, Pepe G, Mulder B, Szabolcs Z, Teixidó-Turà G, Robert L, Emmanuel Y, Evangelista A, Pini A, von Kodolitsch Y, Jondeau G, De Backer J2019-11-21Aortic disease, Dissection, Expert testimony, Genetics, Thoracic aortic aneurysmOrphanet journal of rare diseases
Genetic testing for aortopathies: primer for the nongeneticist.De Backer J, Jondeau G, Boileau C2019-11-01Current opinion in cardiology
Safety of direct oral anticoagulants in patients with hereditary hemorrhagic telangiectasia.Shovlin CL, Millar CM, Droege F, Kjeldsen A, Manfredi G, Suppressa P, Ugolini S, Coote N, Fialla AD, Geisthoff U, Lenato GM, Mager HJ, Pagella F, Post MC, Sabbà C, Sure U, Torring PM, Dupuis-Girod S, Buscarini E2019-08-28Apixaban, Atrial fibrillation, Dabigatran, Epistaxis, Heparin, Pulmonary emboli, Rivaroxaban, Venous thromboemboli, WarfarinOrphanet journal of rare diseases
Safety of thalidomide and bevacizumab in patients with hereditary hemorrhagic telangiectasia.Buscarini E, Botella LM, Geisthoff U, Kjeldsen AD, Mager HJ, Pagella F, Suppressa P, Zarrabeitia R, Dupuis-Girod S, Shovlin CL2019-02-04Adverse event, Arteriovenous malformation, Bevacizumab, Bleeding, Cardiac failure, Epistaxis, Hereditary hemorrhagic telangiectasia, Nosebleeds, ThalidomideOrphanet journal of rare diseases
Prevention of serious infections in hereditary hemorrhagic telangiectasia: roles for prophylactic antibiotics, the pulmonary capillaries-but not vaccination.Shovlin C, Bamford K, Sabbà C, Mager HJ, Kjeldsen A, Droege F, Buscarini E, Dupuis-Girod S2019-02-01Haematologica
Uptake and radiological findings of screening cerebral magnetic resonance scans in patients with hereditary haemorrhagic telangiectasia.Fatania G, Gilson C, Glover A, Alsafi A, Jackson JE, Patel MC, Shovlin CL2018-11-01Cerebral infarction, arteriovenous fistulas, cardioembolic stroke, counselling, magnetic resonance imaging, paradoxical emboli, pulmonary arteriovenous malformations, strokeIntractable & rare diseases research
European Reference Network For Rare Vascular Diseases (VASCERN) Outcome Measures For Hereditary Haemorrhagic Telangiectasia (HHT).Shovlin CL, Buscarini E, Kjeldsen AD, Mager HJ, Sabba C, Droege F, Geisthoff U, Ugolini S, Dupuis-Girod S2018-08-15Anaemia, Antibiotic prophylaxis, Epistaxis, Iron deficiency, Nosebleeds, Pregnancy, Pulmonary arteriovenous malformationsOrphanet journal of rare diseases
British Thoracic Society Clinical Statement on Pulmonary Arteriovenous Malformations.Shovlin CL, Condliffe R, Donaldson JW, Kiely DG, Wort SJ2017-12-01Thorax
Pulmonary arteriovenous malformations emerge from the shadows.Shovlin CL, Condliffe R, Donaldson JW, Kiely DG, Wort SJ2017-12-01not applicableThorax
Long-term outcomes of patients with pulmonary arteriovenous malformations considered for lung transplantation, compared with similarly hypoxaemic cohorts.Shovlin CL, Buscarini E, Hughes JMB, Allison DJ, Jackson JE2017-01-01Ambulatory Oxygen Therapy, Imaging/CT MRI etc, Lung Transplantation, Paediatric Lung Disaese, Rare lung diseases, Systemic disease and lungs, Thoracic SurgeryBMJ open respiratory research
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