Publications

Vous trouverez ci-dessous les liens vers les principales publications en lien avec les thématiques du CRMR MARS :

Syndrome d'Ehlers-Danlos vasculaire et maladies apparentées :

The 2017 international classification of the Ehlers-Danlos syndromes. https://www.ncbi.nlm.nih.gov/pubmed/28306229

Vascular Ehlers-Danlos Syndrome: Long-Term Observational Study. https://www.ncbi.nlm.nih.gov/pubmed/30999998

Accuracy of Clinical Diagnostic Criteria for Patients With Vascular Ehlers-Danlos Syndrome in a Tertiary Referral Centre. https://www.ncbi.nlm.nih.gov/pubmed/30919682

Frequency of de novo variants and parental mosaicism in vascular Ehlers-Danlos syndrome. https://www.ncbi.nlm.nih.gov/pubmed/30474650

Natural History and Surgical Management of Colonic Perforations in Vascular Ehlers-Danlos Syndrome: a Retrospective Review. https://www.ncbi.nlm.nih.gov/pubmed/30946059

Natural history of gastrointestinal manifestations in vascular Ehlers-Danlos syndrome: A 17-year retrospective review. https://www.ncbi.nlm.nih.gov/pubmed/30357907

Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome. https://www.ncbi.nlm.nih.gov/pubmed/28306228

The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome. https://www.ncbi.nlm.nih.gov/pubmed/25758994

Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial. https://www.ncbi.nlm.nih.gov/pubmed/20825986

Arterial Stiffening with Ultrafast Ultrasound Imaging Gives New Insight into Arterial Phenotype of Vascular Ehlers-Danlos Mouse Models. https://www.ncbi.nlm.nih.gov/pubmed/30241104

Pathophysiology of carotid-cavernous fistulas in vascular Ehlers-Danlos syndrome: a retrospective cohort and comprehensive review. https://www.ncbi.nlm.nih.gov/pubmed/29940997

Carotid stiffness change over the cardiac cycle by ultrafast ultrasound imaging in healthy volunteers and vascular Ehlers-Danlos syndrome. https://www.ncbi.nlm.nih.gov/pubmed/26248323

Oral phenotype and scoring of vascular Ehlers-Danlos syndrome: a case-control study. https://www.ncbi.nlm.nih.gov/pubmed/22492385

[Vascular Ehlers-Danlos syndrome]. https://www.ncbi.nlm.nih.gov/pubmed/17159712

Phenotypic variability and diffuse arterial lesions in a family with Loeys-Dietz syndrome type 4. https://www.ncbi.nlm.nih.gov/pubmed/27440102

Arterial tortuosity syndrome: 40 new families and literature review. https://www.ncbi.nlm.nih.gov/pubmed/29323665

Clinical utility gene card for: Arterial tortuosity syndrome. https://www.ncbi.nlm.nih.gov/pubmed/25604859

Arterial tortuosity syndrome: early diagnosis and association with venous tortuosity. https://www.ncbi.nlm.nih.gov/pubmed/23410549

Dysplasie Fibro-Musculaire :

First International Consensus on the diagnosis and management of fibromuscular dysplasia. https://www.ncbi.nlm.nih.gov/pubmed/30648921

Deep Vascular Phenotyping in Patients With Renal Multifocal Fibromuscular Dysplasia. https://www.ncbi.nlm.nih.gov/pubmed/30624987

PHACTR1 Is a Genetic Susceptibility Locus for Fibromuscular Dysplasia Supporting Its Complex Genetic Pattern of Inheritance. https://www.ncbi.nlm.nih.gov/pubmed/27792790

Fibromuscular Dysplasia and Its Neurologic Manifestations: A Systematic Review. https://www.ncbi.nlm.nih.gov/pubmed/30285053

High Prevalence of Multiple Arterial Bed Lesions in Patients With Fibromuscular Dysplasia: The ARCADIA Registry (Assessment of Renal and Cervical Artery Dysplasia). https://www.ncbi.nlm.nih.gov/pubmed/28716989

Cause of renal infarction: a retrospective analysis of 186 consecutive cases. https://www.ncbi.nlm.nih.gov/pubmed/29045340

European consensus on the diagnosis and management of fibromuscular dysplasia. https://www.ncbi.nlm.nih.gov/pubmed/24842696

Revisiting Fibromuscular Dysplasia: Rationale of the European Fibromuscular Dysplasia Initiative. https://www.ncbi.nlm.nih.gov/pubmed/?term=revisiting+fibromuscular

Building a Semantic Interoperability Framework for Care and Research in Fibromuscular Dysplasia. https://www.ncbi.nlm.nih.gov/pubmed/26262042

Fibromuscular dysplasia. https://www.ncbi.nlm.nih.gov/pubmed/17555581

Exome sequencing in seven families and gene-based association studies indicate genetic heterogeneity and suggest possible candidates for fibromuscular dysplasia. https://www.ncbi.nlm.nih.gov/pubmed/26147384

A "pivot" Model to set up Large Scale Rare Diseases Information Systems: Application to the Fibromuscular Dysplasia Registry. https://www.ncbi.nlm.nih.gov/pubmed/25991283

Inheritance of arterial lesions in renal fibromuscular dysplasia. https://www.ncbi.nlm.nih.gov/pubmed/17330059

Evidence for carotid and radial artery wall subclinical lesions in renal fibromuscular dysplasia. https://www.ncbi.nlm.nih.gov/pubmed/14654749

Association of smoking with phenotype at diagnosis and vascular interventions in patients with renal artery fibromuscular dysplasia. https://www.ncbi.nlm.nih.gov/pubmed/23608656

Association between 2 angiographic subtypes of renal artery fibromuscular dysplasia and clinical characteristics. https://www.ncbi.nlm.nih.gov/pubmed/23155180

Clinical management of renal artery fibromuscular dysplasia: temporal trends and outcomes. https://www.ncbi.nlm.nih.gov/pubmed/25232754

Maladie de Takayasu

Overall survival and mortality risk factors in Takayasu's arteritis: A multicenter study of 318 patients. https://www.ncbi.nlm.nih.gov/pubmed/30122419

mTOR pathway is activated in endothelial cells from patients with Takayasu arteritis and is modulated by serum immunoglobulin G. https://www.ncbi.nlm.nih.gov/pubmed/29506143

Immune response in Takayasu arteritis. https://www.ncbi.nlm.nih.gov/pubmed/28803683

Long-Term Outcomes and Prognostic Factors of Complications in Takayasu Arteritis: A Multicenter Study of 318 Patients. https://www.ncbi.nlm.nih.gov/pubmed/28701469

[Takayasu arteritis]. https://www.ncbi.nlm.nih.gov/pubmed/26827273

Efficacy of Biological-Targeted Treatments in Takayasu Arteritis: Multicenter, Retrospective Study of 49 Patients. https://www.ncbi.nlm.nih.gov/pubmed/26354797

Takayasu Arteritis and Pregnancy. https://www.ncbi.nlm.nih.gov/pubmed/26315109

Bicuspidie aortique

Segmental aortic stiffness in patients with bicuspid aortic valve compared with first-degree relatives. https://www.ncbi.nlm.nih.gov/pubmed/30077994

Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor. https://www.ncbi.nlm.nih.gov/pubmed/28659821

Lymphoedème

PNDS février 2019 : https://www.has-sante.fr/portail/jcms/c_2904795/fr/lymphoedeme-primaire

Low-stretch bandages to treat primary lower limb lymphoedema: a cohort of 48 children. https://www.ncbi.nlm.nih.gov/pubmed/29897619

[Lymphedema in patients treated with sirolimus: 15 cases]. https://www.ncbi.nlm.nih.gov/pubmed/29752013

Comment on "Clinical and Psychosocial Outcomes of Vascularized Lymph Node Transfer for the Treatment of Upper Extremity Lymphedema After Breast Cancer Therapy". https://www.ncbi.nlm.nih.gov/pubmed/29039024

Specialized consultations in a hospital-based referral center for patients suspected of having limb lymphedema: Impact on diagnosis. https://www.ncbi.nlm.nih.gov/pubmed/28633618

Primary lymphedema in childhood. https://www.ncbi.nlm.nih.gov/pubmed/28651791

Primary intestinal lymphangiectasia (Wladmann's disease). https://www.ncbi.nlm.nih.gov/pubmed/28867533

Vulvar lymphangioma circumscriptum: comparison of primary and acquired forms in a cohort of 57 patients. https://www.ncbi.nlm.nih.gov/pubmed/28758249