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 P | 2024-11-01 | | NEJM 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 X | 2024-10-18 | Blue rubber bleb nevus syndrome, Gastrointestinal bleeding, Gastrointestinal endoscopy, Sirolimus, Vascular malformations | Digestive 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 J | 2024-10-07 | PIK3CA, PI3K, pathogenic variant, somatic mutation, vascular malformation | American 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 M | 2024-10-07 | | Orphanet 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 Y | 2024-09-19 | Aorta, Aortic Dissection, Delayed Diagnosis, Marfan Syndrome, Thoracic | The 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 A | 2024-09-12 | congenital infiltrating lipomatosis, dental anomalies, dental development, dental occlusion, vascular anomalies | The 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 G | 2024-08-02 | Chitosan hydrogel, Mice, Sclerosis, Sodium tetradecyl sulfate, Vascular malformation | Diagnostic and interventional imaging |
Targeted treatments for vascular malformations: current state of the art. | Seront E, Hermans C, Boon LM, Vikkula M | 2024-08-02 | angiogenesis inhibitor, anticoagulation, sirolimus, targeted therapy, thalidomide | Journal 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 MV | 2024-08-01 | Blue rubber bleb nevus syndrome, hip dysplasia, total hip arthroplasty, trendelenburg gait, venous malformation | Journal 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 T | 2024-07-08 | Lymphedema, assessment, clinical feasibility, concurrent validity, reliability, volume | Disability 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 J | 2024-07-05 | Arteriovenous malformation, RAS-MAPK pathway, RIT1, Trametinib, Vascular anomalies, Vascular malformation | Angiogenesis |
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 I | 2024-07-02 | Aneurysm, Cardiovascular Diseases, Exome Sequencing | Journal 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 U | 2024-06-27 | allergies, hereditary hemorrhagic telangiectasia, infections, pulmonary arteriovenous malformation | Journal of clinical medicine |
Hepatic manifestations of hereditary haemorrhagic telangiectasia. | Kelly C, Buscarini E, Manfredi G, Gregory S, Heneghan MA | 2024-06-07 | VEGF, angiogenesis, hereditary haemorrhagic telangiectasia, liver transplantation, vascular malformation | Liver 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 M | 2024-05-30 | Genetic diseases, Genetics, Lymph, Mouse models, Vascular biology | The 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 K | 2024-05-23 | Intraperitoneal, Lymphatic malformation, Macroscopic resection, Surgery | Journal 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 M | 2024-05-22 | ERN, Gene curation, ISSVA, Mosaic, Postzygotic, Precision medicine, Somatic, VASCERN-VASCA, Vascular malformation | Orphanet 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 LM | 2024-05-16 | Complex lymphatic anomaly, Infection, Lymphedema, Sirolimus, Trametinib, VASE | Orphanet 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 LM | 2024-05-13 | | Plastic 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 AJ | 2024-05-08 | | Scientific 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 AJ | 2024-05-08 | | Scientific 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 I | 2024-05-08 | arteriovenous malformations, congenital vascular malformations, health-related quality of life, lymphatic malformations, pediatric surgery, sclerotherapy, sirolimus, venous malformations | Children (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 M | 2024-04-26 | hepatocyte growth factor, lymphatic system, primary lymphoedema, whole-exome sequencing | Human molecular genetics |
Infantile hemangioma: the common and enigmatic vascular tumor. | Holm A, Mulliken JB, Bischoff J | 2024-04-15 | | The 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 J | 2024-03-27 | Loeys-Dietz syndrome, SMAD3, aneurysmsosteoarthritis syndrome, functional assay | Human molecular genetics |
[Update of indications and techniques for the management of lymphedema after breast cancer surgery]. | Azuar AS, Uzan C, Mathelin C, Vignes S | 2024-03-01 | Breast cancer, Cancer du sein, Compression, Drainage, Lymphedema, Lymphœdème, Microchirurgie, Microsurgery | Gynecologie, 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 C | 2024-03-01 | D-dimer, direct oral anticoagulant, localized intravascular coagulopathy, pain, venous malformation | Research 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 M | 2024-02-29 | Endothelial, NGS, PI3K signaling, Somatic, Zebrafish | The Journal of investigative dermatology |
There is insufficient evidence to lower the threshold for prophylactic aortic surgery. | Milleron O, Eliahou L, Jondeau G | 2024-02-21 | | European 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 M | 2024-02-06 | PI3K signaling, diagnosis, epilepsy, focal cortical dysplasia, genetic, somatic, vascular malformation | American 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 N | 2024-02-01 | Heart Failure, Natriuretic Peptides | La 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 R | 2024-02-01 | Diagnosis, Lymphedema, Management, Patient care, Primary, VASCERN | European 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 TH | 2024-02-01 | cerebral abscess, hereditary haemorrhagic telangiectasia, ischaemic cerebral stroke, pulmonary arteriovenous malformations | European 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 GSC | 2024-01-03 | Kabuki syndrome, Turner syndrome, bicuspid aortic valve, cardiovascular abnormalities, coarctation of the aorta, type A aortic dissection | JACC. 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 AB | 2024-01-01 | Adrenergic beta-antagonists, Long-term adverse effects, Parenting, Psychosocial functioning, Vascular tissue neoplasms | Dermatology (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 E | 2023-12-01 | RFA and ablative methods, Small bowel endoscopy, Small intestinal bleeding | Endoscopy 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 M | 2023-11-27 | Genetics, Hemic and Lymphatic Diseases, Human Genetics, Vascular Diseases | Journal 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 J | 2023-11-24 | ALK1, ENG, HHT, MMP9, angiogenesis, neutrophils | Journal 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 PJ | 2023-11-14 | Bleeding, Hereditary haemorrhagic telangiectasia, Platelet function, Primary haemostasis | Orphanet 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 LM | 2023-11-08 | Angiogenesis, Clinical Trials, Genetic diseases, Lymphomas | JCI 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 BH | 2023-11-01 | Arteriovenous malformations, Health-related quality of life, Lymphatic malformations, Sclerotherapy, Vascular malformations, Venous malformations | European 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 SK | 2023-10-24 | | medRxiv : 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 SGMA | 2023-09-01 | | European journal of pediatrics |
Progression of initially unilateral Moyamoya angiopathy in Caucasian Europeans. | Strunk D, Diehl RR, Veltkamp R, Meuth SG, Kraemer M | 2023-09-01 | Bypass, European Caucasians, Moyamoya angiopathy, Progression, Unilateral | Journal 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 I | 2023-09-01 | | Journal 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 R | 2023-08-30 | | Acta 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 R | 2023-08-01 | | JAMA 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 IDC | 2023-07-01 | Centre of expertise, Guideline, Intellectual disability, Organization of care, Phelan-McDermid syndrome | European 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 G | 2023-07-01 | Surgical resection, Vascular anomalies, Venous malformations | Journal 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 R | 2023-06-10 | ACVRL1, HHT2, Morbus Osler, iPSC | Cells |
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 M | 2023-06-01 | rare disease, vascular anomalies, venous malformation | Journal 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 F | 2023-06-01 | Arteriovenous malformation, COVID-19, Hereditary hemorrhagic telangiectasia, Rare diseases, SARS-CoV-2 infection | Internal and emergency medicine |
Consensus recommendations on lymphedema in Phelan-McDermid syndrome. | Damstra RJ, Vignes S, Mansour S | 2023-06-01 | Lymphedema, Paediatric-treatment, Phelan-McDermid syndrome, Primary, Review | European 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 FG | 2023-06-01 | Gorham-Stout disease, central conducting lymphatic anomaly, complex lymphatic anomaly, generalized lymphatic anomaly, kaposiform lymphangiomatosis, lymphatic malformation | Lymphatic 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 LM | 2023-06-01 | | Nature 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 JP | 2023-05-18 | PIK3CA p.H1047R, TGFA, afatinib, angiomatosis of soft tissue, cell biology, fibroblasts, human, medicine, mouse, stromal cells, venous malformation | eLife |
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 DMWM | 2023-05-01 | | Clinical 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 J | 2023-04-24 | aorta, aortic aneurysm, aortic syndrome, imaging | European 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 L | 2023-04-17 | Marfan syndrome, aortic dissection, ectasia, non-aortic aneurysm | Journal 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 T | 2023-04-01 | Contrast-enhanced ultrasound, Disease activity, Microvessels, Super-resolution imaging, Takayasu arteritis | EBioMedicine |
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 E | 2023-03-14 | Loeys-Dietz syndrome, Lusoria, Marfan syndrome, aberrant subclavian artery, dissection, genetic arteriopathies | Journal of the American College of Cardiology |
[Respiratory manifestations of Ehlers-Danlos syndromes]. | Benattia A, Benistan K, Frank M, Boussouar S | 2023-03-01 | Dyspnea, Dyspnée, Ehlers-Danlos syndrome, Fonction respiratoire, Pneumothorax, Pulmonary function, Respiration, Respiratory, Syndromes d’Ehlers-Danlos | Revue 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 EQ | 2023-02-11 | children, granuloma annulare, low-flow subcutaneous vascular malformations, lymphatic malformations, self-limiting, subcutaneous granuloma annulare, venous malformations | Children (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 K | 2023-02-01 | PLOD1 gene, case report, kyphoscoliotic Ehlers–Danlos syndrome, vascular complications | Clinical 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 SGMA | 2023-02-01 | Adrenergic beta-antagonists, Capillary hemangioma, Child, Cognition, Executive function, Infant, Long-term adverse effects, Neurocognitive disorders, Neuropsychological tests, Vascular malformations, Vascular tissue neoplasms, Wechsler scales | European 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 M | 2023-01-06 | | Human 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 EQ | 2023-01-01 | health organization, infantile hemangioma, patient journey, rare conditions, vascular anomalies | Frontiers 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 DMWM | 2023-01-01 | PedsQL: pediatric quality of life inventory, SF-36: 36-item short form health survey, quality of life, sirolimus (rapamycin), vascular malformation | Frontiers 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 F | 2023-01-01 | | International 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 G | 2023-01-01 | Familial thoracic aortic aneurysm and dissection, Loeys-dietz syndrome, Marfan syndrome, Thoracic aortic aneurysm | European 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 M | 2023-01-01 | female urogenital diseases and pregnancy complications, genetics, loss of function mutation, medical | Journal 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 B | 2022-12-08 | Kasabach–Merritt phenomenon, coagulopathy, localized intravascular coagulopathy, platelet function, vascular anomalies, von Willebrand factor | Biomolecules |
Marfan's syndrome with anterior sacral pseudomeningocele. | Nguyen C, Jondeau G | 2022-12-01 | | Oxford 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 M | 2022-12-01 | Alpelisib, Interventional radiology, Lymphatic malformation, Management, PIK3CA, Patient pathway, Sclerotherapy, Sirolimus, Surgery, Treatment algorithm, Vascular malformation | European 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 K | 2022-12-01 | Lymphatic malformation, Sclerotherapy, Spontaneous resolution, Surgery, Treatment | Journal of pediatric surgery |
Skin and mucosal telangiectatic lesions in hereditary hemorrhagic telangiectasia patients. | Hyldahl SJ, El-Jaji MQ, Schuster A, Kjeldsen AD | 2022-12-01 | | International journal of dermatology |
Molecular pathways and possible therapies for head and neck vascular anomalies. | Coulie J, Boon L, Vikkula M | 2022-11-01 | PI3K/AKT/mTOR (PIKopathies), RAS/RAF/MEK/ERK (RASopathies), theragnostic treatment, vascular anomalies | Journal 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 E | 2022-10-01 | Anaemia, Bevacizumab, Digestive bleeding, Hereditary haemorrhagic telangiectasia, Iron deficiency, Nosebleeds | European 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 C | 2022-10-01 | | Minerva 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 C | 2022-09-10 | | Lancet (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 M | 2022-09-01 | | European 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 DM | 2022-08-30 | Loeys-Dietz syndrome, aortic dissection, pathogenic variant, precision medicine, thoracic aortic aneurysm | Journal 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 AH | 2022-07-06 | TGF-β, aorta, aortic surgery, gene therapy, marfan syndrome, translational therapy | Journal 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 M | 2022-06-01 | Algorithm, Diagnosis, Infantile hemangioma, LUMBAR/PELVIS/SACRAL syndrome, Large segmental hemangiomas, Management, Multifocal hemangiomas, PHACES syndrome | European 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 J | 2022-06-01 | | European 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 I | 2022-06-01 | TEK/TIE2, genetics, rapamycin, vascular malformation, venous malformation | Molecular 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 M | 2022-06-01 | | Nature 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 P | 2022-05-21 | Cardiomyopathies, 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 M | 2022-05-12 | Megalencephaly-capillary malformation, PIK3CA, Phenotype | Italian 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 F | 2022-05-01 | | Clinical and experimental rheumatology |
[Interdisciplinary management of extracranial vascular anomalies]. | Geisthoff U, Mahnken AH, Knaus P, Schnittler HJ, Stuck BA, Knöppel C | 2022-05-01 | Arteriovenous malformations, Hemangioma, Hereditary hemorrhagic telangiectasia, Lymphangioma, Vascular malformations | HNO |
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 NL | 2022-03-02 | | Science translational medicine |
The VASCERN European Reference Network: An overview. | Jondeau G, Hallac J, Hurard M, Daoud K, Barr N, Domnez I | 2022-03-01 | European reference network, HHT, Heritable thoracic aortic disease, Lymphatic anomalies, Vascular anomalies, Vascular ehlers danlos | European 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 RE | 2022-01-17 | | Nature 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 S | 2022-01-01 | | European 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 FG | 2021-12-17 | | Human 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 J | 2021-12-04 | Aortic aneurysm and dissection, Cardiovascular anomalies, Connective tissue disorder, Ehlers–Danlos, FLNA | Orphanet journal of rare diseases |
Primary lymphoedema. | Brouillard P, Witte MH, Erickson RP, Damstra RJ, Becker C, Quéré I, Vikkula M | 2021-10-21 | | Nature 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 C | 2021-09-08 | COVID-19, Hereditary hemorrhagic telangiectasia, PANDEMICS 2020, Rare diseases, SARS-CoV-2 infection | Orphanet journal of rare diseases |
Marfan syndrome. | Milewicz DM, Braverman AC, De Backer J, Morris SA, Boileau C, Maumenee IH, Jondeau G, Evangelista A, Pyeritz RE | 2021-09-02 | | Nature 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 JE | 2021-09-01 | | Clinical 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 C | 2021-08-01 | animal naming test., critical flicker frequency, hepatic vascular malformation, portosystemic shunt | European 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 O | 2021-08-01 | CT scan, Ehlers–Danlos syndrome, Hemothorax, Pneumothorax, Pulmonary emphysema | European 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 FG | 2021-08-01 | severe adverse events, sirolimus, toxicity, vascular anomalies | Pediatric 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 KM | 2021-07-08 | Alpelisib, Miransertib, PI3K, PIK3CA, PROS, Sirolimus, Vascular malformation | Orphanet 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 G | 2021-07-01 | | Genetics 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 M | 2021-06-25 | endothelium, mutation, precision medicine, sirolimus, thalidomide | Circulation 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 M | 2021-06-10 | Allele, Epidemiology, Frequency, Gene, Isolated, Lymphatic malformation, Mutation, PI3K, Somatic, Theragnostic | Orphanet 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 M | 2021-05-01 | ISSVA, gastrointestinal tract, skin, vascular anomalies, venous malformations | Dermatologic therapy |
Venous Malformations and Blood Coagulation in Children. | Aronniemi J, Långström S, Mattila KA, Mäkipernaa A, Salminen P, Pitkäranta A, Pekkola J, Lassila R | 2021-04-20 | D-dimer, children, coagulation disturbances, coagulation factors, venous malformation | Children (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 A | 2021-04-08 | European commission 3rd health programme, European reference network, Knowledge exchange, Orphan diseases, Rare diseases, Telemedicine, Vascular diseases, eHealth, mHealth | Orphanet 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 I | 2021-03-01 | Bleomycin, Lauromacrogol, Lymphatic malformation, Sclerotherapy, Vascular malformation | European 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 A | 2021-01-08 | | Clinical chemistry |
Human chromosome map of lymphedema-lymphangiogenesis genes: Template for current and future discovery. | Witte MH, Erickson RP, Luy L, Brouillard P, Vikkula M | 2021-01-01 | chromosomes, genes, mutations, primary lymphedema | Lymphology |
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 FG | 2021-01-01 | lymphatic malformation, rapamycin, sirolimus, tracheostoma, tracheostomy, vascular anomaly | Frontiers 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 AD | 2020-11-26 | Bevacizumab, HHT, Hepatic, Hereditary hemorrhagic telangiectasia, Right heart failure, Vascular endothelial growth factor inhibitor | Orphanet journal of rare diseases |
Marfan sartan saga, episode X. | Jondeau G, Milleron O, Boileau C | 2020-11-14 | | European 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 E | 2020-10-22 | | Blood |
Genetics of vascular anomalies. | Nguyen HL, Boon LM, Vikkula M | 2020-10-01 | | Seminars in pediatric surgery |
New and Emerging Targeted Therapies for Vascular Malformations. | Van Damme A, Seront E, Dekeuleneer V, Boon LM, Vikkula M | 2020-10-01 | | American 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 P | 2020-10-01 | Belgium, Congenital heart disease, Database management systems, Health services research | International 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 HG | 2020-09-28 | compression, elephantiasis nostras verrucosis, garment, lymphostatic verrucosis, primary lymphedema, shaving, surgery, toecaps | Journal 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 J | 2020-09-01 | Genetic testing, adult congenital heart disease, genetic counseling, heritable thoracic aortic disease | European 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 CL | 2020-06-29 | | Orphanet 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 L | 2020-06-23 | health information interoperability, rare diseases, registries | Studies 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 K | 2020-04-01 | Children, Intra-articular, Knee, Magnetic resonance imaging, Synovium, Venous malformation | Pediatric 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 G | 2020-03-03 | FBN1, Marfan, aorta, diameter, dissection | Journal 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 AD | 2020-03-01 | Epistaxis, Glasgow Benefit Inventory, HHT, Hereditary hemorrhagic telangiectasia, Hht-center OUH, Nasal closure | European 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 M | 2020-02-01 | PET/CT, RGD, angiogenesis, arteriovenous malformation, integrin αvβ3 | Journal 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 M | 2020-01-01 | RASA1, capillary malformation-arteriovenous malformation, mosaic mutation, second hit | Journal 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 J | 2019-12-01 | FBN1, Ghent nosology, Marfan syndrome, adiposity, aortic valve, arrhythmia, dental, hemostasis, lung, manifestations, mitral valve, muscle, myocardium, psychology, skeleton, sleep, urogenital, vascular | Expert 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 J | 2019-11-21 | Aortic disease, Dissection, Expert testimony, Genetics, Thoracic aortic aneurysm | Orphanet journal of rare diseases |
Genetic testing for aortopathies: primer for the nongeneticist. | De Backer J, Jondeau G, Boileau C | 2019-11-01 | | Current 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 E | 2019-08-28 | Apixaban, Atrial fibrillation, Dabigatran, Epistaxis, Heparin, Pulmonary emboli, Rivaroxaban, Venous thromboemboli, Warfarin | Orphanet 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 CL | 2019-02-04 | Adverse event, Arteriovenous malformation, Bevacizumab, Bleeding, Cardiac failure, Epistaxis, Hereditary hemorrhagic telangiectasia, Nosebleeds, Thalidomide | Orphanet 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 S | 2019-02-01 | | Haematologica |
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 CL | 2018-11-01 | Cerebral infarction, arteriovenous fistulas, cardioembolic stroke, counselling, magnetic resonance imaging, paradoxical emboli, pulmonary arteriovenous malformations, stroke | Intractable & 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 S | 2018-08-15 | Anaemia, Antibiotic prophylaxis, Epistaxis, Iron deficiency, Nosebleeds, Pregnancy, Pulmonary arteriovenous malformations | Orphanet journal of rare diseases |
British Thoracic Society Clinical Statement on Pulmonary Arteriovenous Malformations. | Shovlin CL, Condliffe R, Donaldson JW, Kiely DG, Wort SJ | 2017-12-01 | | Thorax |
Pulmonary arteriovenous malformations emerge from the shadows. | Shovlin CL, Condliffe R, Donaldson JW, Kiely DG, Wort SJ | 2017-12-01 | not applicable | Thorax |
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 JE | 2017-01-01 | Ambulatory Oxygen Therapy, Imaging/CT MRI etc, Lung Transplantation, Paediatric Lung Disaese, Rare lung diseases, Systemic disease and lungs, Thoracic Surgery | BMJ open respiratory research |