442 results on '"Dupuis-Girod, Sophie"'
Search Results
2. Conservative management by embolization of a ruptured renal arterio-venous malformation (AVM) in Hereditary Hemorrhagic Telangiectasia (HHT)
3. Thirty Years of Research into Rendu-Osler-Weber Disease in France: Historical Demography, Population Genetics and Molecular Biology
4. Ultra-low dose chest CT for the diagnosis of pulmonary arteriovenous malformation in patients with hereditary hemorrhagic telangiectasia
5. Hereditary hemorrhagic telangiectasia: from signaling insights to therapeutic advances
6. Antiplatelet and anticoagulant therapies in hereditary hemorrhagic telangiectasia: A large French cohort study (RETROPLACOTEL)
7. Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency
8. Specifications of the ACMG/AMP variant curation guidelines for hereditary hemorrhagic telangiectasia genes - ENG and ACVRL1
9. European Reference Network for Rare Vascular Diseases (VASCERN): When and how to use intravenous bevacizumab in Hereditary Haemorrhagic Telangiectasia (HHT)?
10. Development and validation of a quality of life measurement scale specific to hereditary hemorrhagic telangiectasia: the QoL-HHT
11. Phenotypic characterisation of SMAD4 variant carriers.
12. Hereditary hemorrhagic telangiectasia: from signaling insights to therapeutic advances
13. Hereditary hemorrhagic telangiectasia and health-related quality of life : a qualitative investigation
14. Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes--ENG and ACVRL1.
15. Incidence of cardiovascular events and risk markers in a prospective study of children diagnosed with Marfan syndrome
16. Altered expressions of CXCR4 and CD26 on T-helper lymphocytes in hereditary hemorrhagic telangiectasia
17. A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis
18. ClinGen HHT variant curation expert panel’s modified variant interpretation and classification guidelines
19. Genetic variants of Adam17 differentially regulate TGFβ signaling to modify vascular pathology in mice and humans
20. Conservative management by embolization of a ruptured renal arterio-venous malformation (AVM) in Hereditary Hemorrhagic Telangiectasia (HHT).
21. Efficacy and safety of intravenous bevacizumab on severe bleeding associated with hemorrhagic hereditary telangiectasia: A national, randomized multicenter trial
22. Early-Onset Aortic Dissection: Characterization of a New Pathogenic Splicing Variation in the MYH11 Gene with Several In-Frame Abnormal Transcripts
23. Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD)
24. Frequency of de novo variants and parental mosaicism in vascular Ehlers–Danlos syndrome
25. Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study)
26. Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations
27. Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia
28. European Reference Network for Rare Vascular Diseases (VASCERN) position statement on cerebral screening in adults and children with hereditary haemorrhagic telangiectasia (HHT)
29. Hereditary haemorrhagic telangiectasia and pregnancy: a review of the literature
30. Future treatments for hereditary hemorrhagic telangiectasia
31. Pulmonary arteriovenous malformations in hereditary haemorrhagic telangiectasia: Correlations between computed tomography findings and cerebral complications
32. Primary Non-Aortic Lesions Are Not Rare in Marfan Syndrome and Are Associated with Aortic Dissection Independently of Age
33. Seven cases of hereditary haemorrhagic telangiectasia-like hepatic vascular abnormalities associated withEPHB4pathogenic variants
34. Executive summary of the 12th HHT international scientific conference
35. Assessment of Dural Ectasia Using Computed Tomodensitometry as a Criterion in Marfan Syndrome
36. Efficacy of TIMOLOL nasal spray as a treatment for epistaxis in hereditary hemorrhagic telangiectasia. A double-blind, randomized, placebo-controlled trial
37. Safety of thalidomide and bevacizumab in patients with hereditary hemorrhagic telangiectasia
38. Seven cases of hereditary haemorrhagic telangiectasia-like hepatic vascular abnormalities associated with EPHB4 pathogenic variants.
39. Obstetrical and neonatal complications in hereditary haemorrhagic telangiectasia: A retrospective study
40. European Reference Network for Rare Vascular Diseases (VASCERN): When and how to use intravenous bevacizumab in Hereditary Haemorrhagic Telangiectasia (HHT)?
41. Peripheral arterial lesions of Marfan’s the disease: Analysis of a multicentric 138 patients cohort
42. Comment on Kilian et al. Comparing Characteristics and Treatment of Brain Vascular Malformations in Children and Adults with HHT. J. Clin. Med. 2023, 12 , 2704.
43. Correction: Arterial tortuosity syndrome: 40 new families and literature review
44. European Reference Network For Rare Vascular Diseases (VASCERN) Outcome Measures For Hereditary Haemorrhagic Telangiectasia (HHT)
45. 9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping
46. Embolization of Recurrent Pulmonary Arteriovenous Malformations by Ethylene Vinyl Alcohol Copolymer (Onyx®) in Hereditary Hemorrhagic Telangiectasia: Safety and Efficacy
47. Arterial Disease Beyond The Aorta and Vascular Risk Assessment in Marfan Syndrome
48. Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome
49. Obstetrical and neonatal complications in hereditary haemorrhagic telangiectasia: A retrospective study.
50. Development and validation of a quality of life measurement scale specific to Hereditary Hemorrhagic Telangiectasia: The QoL-HHT
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