Found: 45
Select item for more details and to access through your institution.
Pulmonary arteriovenous malformations in hereditary haemorrhagic telangiectasia: Correlations between computed tomography findings and cerebral complications.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Obstetrical and neonatal complications in hereditary haemorrhagic telangiectasia: A retrospective study.
- Published in:
- BJOG: An International Journal of Obstetrics & Gynaecology, 2023, v. 130, n. 3, p. 303, doi. 10.1111/1471-0528.17303
- By:
- Publication type:
- Article
Embolization of Recurrent Pulmonary Arteriovenous Malformations by Ethylene Vinyl Alcohol Copolymer (Onyx ®) in Hereditary Hemorrhagic Telangiectasia: Safety and Efficacy.
- Published in:
- Journal of Personalized Medicine, 2022, v. 12, n. 7, p. 1091, doi. 10.3390/jpm12071091
- By:
- Publication type:
- Article
Acute paraplegia due to spinal arteriovenous fistula in two patients with hereditary hemorrhagic telangiectasia.
- Published in:
- 2009
- By:
- Publication type:
- journal article
Successful match-unrelated donor bone marrow transplantation for congenital erythropoietic porphyria (Günther disease).
- Published in:
- 2005
- By:
- Publication type:
- journal article
ZEB2, a new candidate gene for asplenia.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-2
- By:
- Publication type:
- Article
ZEB2, a new candidate gene for asplenia.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
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.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 5, p. 1262, doi. 10.3390/jcm9051262
- By:
- Publication type:
- Article
Classifying Ectopia Lentis in Marfan Syndrome into Five Grades of Increasing Severity.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 3, p. 721, doi. 10.3390/jcm9030721
- By:
- Publication type:
- Article
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-κB signaling.
- Published in:
- Nature Genetics, 2001, v. 27, n. 3, p. 277
- By:
- Publication type:
- Article
Pulmonary Vascular Manifestations of Hereditary Hemorrhagic Telangiectasia (Rendu-Osler Disease).
- Published in:
- Respiration, 2007, v. 74, n. 4, p. 361, doi. 10.1159/000103205
- By:
- Publication type:
- Article
Safety of thalidomide and bevacizumab in patients with hereditary hemorrhagic telangiectasia.
- Published in:
- 2019
- By:
- Publication type:
- journal article
European Reference Network For Rare Vascular Diseases (VASCERN) Outcome Measures For Hereditary Haemorrhagic Telangiectasia (HHT).
- Published in:
- 2018
- By:
- Publication type:
- journal article
Conservative management by embolization of a ruptured renal arterio-venous malformation (AVM) in Hereditary Hemorrhagic Telangiectasia (HHT).
- Published in:
- CVIR Endovascular, 2024, v. 7, n. 1, p. 1, doi. 10.1186/s42155-024-00444-8
- By:
- Publication type:
- Article
A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis.
- Published in:
- Human Genetics, 2020, v. 139, n. 4, p. 461, doi. 10.1007/s00439-019-02102-9
- By:
- Publication type:
- Article
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.
- Published in:
- Journal of Clinical Medicine, 2023, v. 12, n. 22, p. 7179, doi. 10.3390/jcm12227179
- By:
- Publication type:
- Article
Primary Non-Aortic Lesions Are Not Rare in Marfan Syndrome and Are Associated with Aortic Dissection Independently of Age.
- Published in:
- Journal of Clinical Medicine, 2023, v. 12, n. 8, p. 2902, doi. 10.3390/jcm12082902
- By:
- Publication type:
- Article
Genetic variation in the functional ENG allele inherited from the non-affected parent associates with presence of pulmonary arteriovenous malformation in hereditary hemorrhagic telangiectasia 1 (HHT1) and may influence expression of PTPN14.
- Published in:
- Frontiers in Genetics, 2015, v. 6, p. 1, doi. 10.3389/fgene.2015.00067
- By:
- Publication type:
- Article
Thirty Years of Research into Rendu-Osler-Weber Disease in France: Historical Demography, Population Genetics and Molecular Biology.
- Published in:
- Population (00324663), 2009, v. 64, n. 2, p. 273, doi. 10.3917/pope.902.0273
- By:
- Publication type:
- Article
Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 6, p. 742, doi. 10.1038/ejhg.2008.3
- By:
- Publication type:
- Article
Response to Bevacizumab for the treatment of Rendu-Osler disease-A note of caution.
- Published in:
- Liver International, 2017, v. 37, n. 6, p. 928, doi. 10.1111/liv.13385
- By:
- Publication type:
- Article
Hereditary hemorrhagic telangiectasia: to transplant or not to transplant?
- Published in:
- Liver International, 2016, v. 36, n. 12, p. 1741, doi. 10.1111/liv.13210
- By:
- Publication type:
- Article
Development and validation of a quality of life measurement scale specific to hereditary hemorrhagic telangiectasia: the QoL-HHT.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Altered expressions of CXCR4 and CD26 on T-helper lymphocytes in hereditary hemorrhagic telangiectasia.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Efficacy and safety of intravenous bevacizumab on severe bleeding associated with hemorrhagic hereditary telangiectasia: A national, randomized multicenter trial.
- Published in:
- Journal of Internal Medicine, 2023, v. 294, n. 6, p. 761, doi. 10.1111/joim.13714
- By:
- Publication type:
- Article
Classical Ehlers‐Danlos syndrome with a propensity to arterial events: A new report on a French family with a COL1A1 p.(Arg312Cys) variant.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 2, p. 357, doi. 10.1111/cge.13643
- By:
- Publication type:
- Article
Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Future treatments for hereditary hemorrhagic telangiectasia.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Hereditary haemorrhagic telangiectasia and pregnancy: a review of the literature.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Functional analysis of endoglin mutations from hereditary hemorrhagic telangiectasia type 1 patients reveals different mechanisms for endoglin loss of function.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 4, p. 1142, doi. 10.1093/hmg/ddu531
- By:
- Publication type:
- Article
Thrombocytosis and toxocariasis: Report of two pediatric cases.
- Published in:
- Pediatric Blood & Cancer, 2005, v. 44, n. 2, p. 190, doi. 10.1002/pbc.20222
- By:
- Publication type:
- Article
Early-Onset Aortic Dissection: Characterization of a New Pathogenic Splicing Variation in the MYH11 Gene with Several In-Frame Abnormal Transcripts.
- Published in:
- Human Mutation, 2023, p. 1, doi. 10.1155/2023/1410230
- By:
- Publication type:
- Article
Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes--ENG and ACVRL1.
- Published in:
- Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/3043736
- By:
- Publication type:
- Article
Hereditary hemorrhagic telangiectasia and health-related quality of life: a qualitative investigation.
- Published in:
- 2020
- By:
- Publication type:
- journal article
How to improve specific databases for clinical data in rare diseases? The example of hereditary haemorrhagic telangiectasia.
- Published in:
- Journal of Evaluation in Clinical Practice, 2012, v. 18, n. 3, p. 523, doi. 10.1111/j.1365-2753.2010.01627.x
- By:
- Publication type:
- Article
The mutational spectrum of human malignant autosomal recessive osteopetrosis.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 17, p. 1767, doi. 10.1093/hmg/10.17.1767
- By:
- Publication type:
- Article
The mutational spectrum of human malignant autosomal recessive osteopetrosis.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 16, p. 1767, doi. 10.1093/hmg/10.17.1767
- By:
- Publication type:
- Article
Effect of Bevacizumab Nasal Spray on Epistaxis Duration in Hereditary Hemorrhagic Telangectasia: A Randomized Clinical Trial.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Bevacizumab in Patients With Hereditary Hemorrhagic Telangiectasia and Severe Hepatic Vascular Malformations and High Cardiac Output.
- Published in:
- JAMA: Journal of the American Medical Association, 2012, v. 307, n. 9, p. 948, doi. 10.1001/jama.2012.250
- By:
- Publication type:
- Article
Marfan Sartan: a randomized, double-blind, placebo-controlled trial.
- Published in:
- European Heart Journal, 2015, v. 36, n. 32, p. 2160, doi. 10.1093/eurheartj/ehv151
- By:
- Publication type:
- Article
A Case of Trisomy 13 Mosaicism Presenting with a Severe Aortic Root Dilatation and Marfanoid Habitus due to an Unpredictable Cytogenetic Mechanism.
- Published in:
- Cytogenetic & Genome Research, 2020, v. 160, n. 2, p. 72, doi. 10.1159/000506319
- By:
- Publication type:
- Article
The Lung in Hereditary Hemorrhagic Telangiectasia.
- Published in:
- Respiration, 2017, v. 94, n. 4, p. 315, doi. 10.1159/000479632
- By:
- Publication type:
- Article
Intra-venous bevacizumab in hereditary hemorrhagic telangiectasia (HHT): A retrospective study of 46 patients.
- Published in:
- PLoS ONE, 2017, v. 12, n. 11, p. 1, doi. 10.1371/journal.pone.0188943
- By:
- Publication type:
- Article
Pulmonary hypertension subtypes associated with hereditary haemorrhagic telangiectasia: Haemodynamic profiles and survival probability.
- Published in:
- PLoS ONE, 2017, v. 12, n. 10, p. 1, doi. 10.1371/journal.pone.0184227
- By:
- Publication type:
- Article
Hemorrhagic Hereditary Telangiectasia (Rendu-Osler Disease) and Infectious Diseases: An Underestimated Association.
- Published in:
- Clinical Infectious Diseases, 2007, v. 44, n. 6, p. 841, doi. 10.1086/511645
- By:
- Publication type:
- Article