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107 results on '"Dupuis-Girod, Sophie"'

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1. Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study)

2. Ultra-low dose chest CT for the diagnosis of pulmonary arteriovenous malformation in patients with hereditary hemorrhagic telangiectasia

5. Antiplatelet and anticoagulant therapies in hereditary hemorrhagic telangiectasia: A large French cohort study (RETROPLACOTEL)

6. Efficacy and safety of intravenous bevacizumab on severe bleeding associated with hemorrhagic hereditary telangiectasia: A national, randomized multicenter trial

8. Primary Non-Aortic Lesions Are Not Rare in Marfan Syndrome and Are Associated with Aortic Dissection Independently of Age

9. Seven cases of hereditary haemorrhagic telangiectasia-like hepatic vascular abnormalities associated withEPHB4pathogenic variants

11. European Reference Network for Rare Vascular Diseases (VASCERN): When and how to use intravenous bevacizumab in Hereditary Haemorrhagic Telangiectasia (HHT)?

13. Development and validation of a quality of life measurement scale specific to hereditary hemorrhagic telangiectasia: the QoL-HHT

15. Arterial Disease Beyond The Aorta and Vascular Risk Assessment in Marfan Syndrome

16. Development and validation of a quality of life measurement scale specific to Hereditary Hemorrhagic Telangiectasia: The QoL-HHT

21. Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia

22. Hereditary hemorrhagic telangiectasia and liver involvement

24. European Reference Network for Rare Vascular Diseases (VASCERN) position statement on cerebral screening in adults and children with hereditary haemorrhagic telangiectasia (HHT)

25. Efficacy and Safety of a 0.1% Tacrolimus Nasal Ointment as a Treatment for Epistaxis in Hereditary Hemorrhagic Telangiectasia: A Double-Blind, Randomized, Placebo-Controlled, Multicenter Trial

27. Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

28. A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis

32. A Case of Trisomy 13 Mosaicism Presenting with a Severe Aortic Root Dilatation and Marfanoid Habitus due to an Unpredictable Cytogenetic Mechanism

33. Incidence of cardiovascular events and risk markers in a prospective study of children diagnosed with Marfan syndrome

34. An International Multicenter Study of Intravenous Bevacizumab for the Treatment of Chronic Bleeding and Anemia in Hereditary Hemorrhagic Telangiectasia: The Inhibit-Bleed Study

39. Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD)

40. Efficacy of TIMOLOL nasal spray as a treatment for epistaxis in hereditary hemorrhagic telangiectasia. A double-blind, randomized, placebo-controlled trial

43. Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

44. Recurrence of Hereditary Hemorrhagic Telangiectasia After Liver Transplantation: Clinical Implications and Physiopathological Insights

45. Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study)

48. Arterial tortuosity syndrome: 40 new families and literature review

50. Correction: Arterial tortuosity syndrome: 40 new families and literature review

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