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Clinics in Chest Medicine, ISSN 0272-5231, 09/2016, Volume 37, Issue 3, pp. 505 - 511
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder that is associated with oculocutaneous albinism, bleeding diatheses, granulomatous colitis,... 
Biogenesis of lysosome-related organelle complex | Pulmonary fibrosis | Adaptor protein 3 | Albinism | Hermansky-Pudlak syndrome | Interstitial lung disease | MUTATION SCREEN REVEALS | FORM | SUSCEPTIBILITY | COLITIS | RESPIRATORY SYSTEM | INFLAMMATION | MOUSE MODEL | SYNDROME TYPE-2 | LUNG-DISEASE | PULMONARY-FIBROSIS | IMMUNODEFICIENCY | Epistaxis - etiology | Hemorrhagic Disorders - physiopathology | Pulmonary Veins - abnormalities | Gastrointestinal Diseases - physiopathology | Humans | Gastrointestinal Diseases - etiology | Hypertension, Pulmonary - physiopathology | Telangiectasis - physiopathology | Epistaxis - physiopathology | Arteriovenous Malformations - physiopathology | Intracranial Arteriovenous Malformations - physiopathology | Albinism, Oculocutaneous - physiopathology | Hemorrhagic Disorders - complications | Liver Diseases - etiology | Intracranial Arteriovenous Malformations - etiology | Crohn Disease - etiology | Pulmonary Fibrosis - etiology | Albinism - physiopathology | Blood Coagulation Disorders - etiology | Arteriovenous Malformations - etiology | Pulmonary Artery - abnormalities | Albinism - complications | Albinism, Oculocutaneous - etiology | Telangiectasis - etiology | Hermanski-Pudlak Syndrome - complications | Pulmonary Fibrosis - physiopathology | Hermanski-Pudlak Syndrome - physiopathology | Crohn Disease - physiopathology | Liver Diseases - physiopathology | Hypertension, Pulmonary - etiology | Blood Coagulation Disorders - physiopathology
Journal Article
Arthritis and Rheumatism, ISSN 0004-3591, 2013, Volume 65, Issue 11, pp. 2737 - 2747
Journal Article
British Journal of Haematology, ISSN 0007-1048, 11/2015, Volume 171, Issue 4, pp. 443 - 452
Summary Hereditary haemorrhagic telangiectasia is a rare systemic autosomal dominantly inherited disorder of the fibrovascular tissue with a wide variety of... 
Rendu‐Osler‐Weber disease | hereditary haemorrhagic telangiectasia | vascular malformation | anticoagulation | epistaxis | Rendu-Osler-Weber disease | Vascular malformation | Epistaxis | Anticoagulation | Hereditary haemorrhagic telangiectasia | EPISTAXIS SECONDARY | YOUNGS PROCEDURE | CONTROLLED CLINICAL-TRIAL | TRANEXAMIC ACID | ROW HELICAL CT | DOUBLE-BLIND | RENDU-OSLER-WEBER | RECURRENT EPISTAXIS | HEMATOLOGY | ANTIESTROGEN THERAPY | RARE DISEASE | Epistaxis - etiology | Telangiectasia, Hereditary Hemorrhagic - therapy | Humans | Antibiotic Prophylaxis | Telangiectasia, Hereditary Hemorrhagic - genetics | Embolization, Therapeutic | Thrombophilia - etiology | Telangiectasia, Hereditary Hemorrhagic - diagnosis | Fibrinolytic Agents - therapeutic use | Intracranial Arteriovenous Malformations - etiology | Thrombophilia - drug therapy | Telangiectasia, Hereditary Hemorrhagic - complications | Signal Transduction | Anemia, Iron-Deficiency - etiology | Arteriovenous Malformations - etiology | Transforming Growth Factor beta - physiology | Anticoagulants - therapeutic use | Epistaxis - prevention & control | Hemostatics - adverse effects | Liver - blood supply | Intracranial Arteriovenous Malformations - diagnosis | Gastrointestinal Hemorrhage - etiology | Neovascularization, Pathologic - drug therapy | Neovascularization, Pathologic - genetics | Disease Management | Hemostatics - therapeutic use | Lung - blood supply | Hypertension, Pulmonary - etiology | Telangiectasis
Journal Article
Seminars in Arthritis and Rheumatism, ISSN 0049-0172, 2015, Volume 44, Issue 6, pp. 680 - 686
Journal Article
Arthritis & Rheumatology, ISSN 2326-5191, 12/2015, Volume 67, Issue 12, pp. 3234 - 3244
Objective To determine the relationships between systemic sclerosis (SSc)–related autoantibodies, as well as their clinical associations, in a... 
ANTIBODIES | ANTRAL VASCULAR ECTASIA | SUBSETS | CLASSIFICATION | PREVALENCE | RHEUMATOLOGY | JAPANESE PATIENTS | FRENCH | RNA-POLYMERASE-III | CLINICAL-SIGNIFICANCE | FEATURES | Receptors, Platelet-Derived Growth Factor - immunology | Gastric Antral Vascular Ectasia - immunology | Humans | Middle Aged | Centromere Protein B - immunology | Immunoblotting | Male | Raynaud Disease - etiology | DNA Topoisomerases, Type I - immunology | Esophageal Motility Disorders - etiology | Centromere Protein A | Scleroderma, Systemic - complications | Ribonucleoproteins - immunology | Female | Contracture - immunology | Gastric Antral Vascular Ectasia - etiology | Telangiectasis - immunology | Principal Component Analysis | DNA-Binding Proteins - immunology | Exoribonucleases - immunology | RNA-Binding Proteins - immunology | Scleroderma, Systemic - immunology | RNA Polymerase III - immunology | Scleroderma, Systemic - epidemiology | Chromosomal Proteins, Non-Histone - immunology | Autoantibodies - immunology | Ku Autoantigen | Telangiectasis - etiology | Smoking - epidemiology | Autoantigens - immunology | Sex Factors | Aged | Exosome Multienzyme Ribonuclease Complex - immunology | Pol1 Transcription Initiation Complex Proteins - immunology | Raynaud Disease - immunology | Australia | Esophageal Motility Disorders - immunology | Antigens, Nuclear - immunology | Neoplasms - epidemiology | Cohort Studies | Contracture - etiology | Principal components analysis | RNA polymerase | Autoimmune diseases | Patients
Journal Article
British Journal of Dermatology, ISSN 0007-0963, 08/2007, Volume 157, Issue 2, pp. 331 - 337
Journal Article
Journal of Neurosurgery, ISSN 0022-3085, 05/2000, Volume 92, Issue 5, pp. 779 - 84
OBJECT: Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal-dominant vascular dysplasia with a high prevalence of cerebrovascular malformations... 
Injections, Intravenous | Prospective Studies | Humans | Middle Aged | Male | Angiography, Digital Subtraction | Cerebral Hemorrhage/etiology | Sensitivity and Specificity | Adult | Female | Retrospective Studies | Risk Factors | False Negative Reactions | Lung/blood supply | Telangiectasia, Hereditary Hemorrhagic/complications | Arteriovenous Malformations/etiology | Seizures/etiology | Headache/etiology | Migraine Disorders/etiology | Cerebral Angiography | Adolescent | Sex Factors | Aged | Intracranial Arteriovenous Malformations/classification | Cohort Studies | Telangiectasis | Bleeding risk | Hereditary hemorrhagic telangiectasia | Cerebral vascular malformation | Arteriovenous malformation | arteriovenous malformation | SYSTEM | REGRESSION | SURGERY | ENDOGLIN | bleeding risk | CEREBRAL ARTERIOVENOUS-MALFORMATIONS | NATURAL-HISTORY | hereditary hemorrhagic telangiectasia telangiectasis | cerebral vascular malformation | CLINICAL NEUROLOGY | ANEURYSMS | VASCULAR MALFORMATIONS | COMPLICATIONS | MUTATIONS | BRAIN | Headache - etiology | Intracranial Arteriovenous Malformations - physiopathology | Cerebral Hemorrhage - etiology | Intracranial Arteriovenous Malformations - complications | Telangiectasia, Hereditary Hemorrhagic - complications | Arteriovenous Malformations - etiology | Seizures - etiology | Migraine Disorders - etiology | Lung - blood supply | Intracranial Arteriovenous Malformations - classification
Journal Article
Journal Article
Arthritis & Rheumatology, ISSN 2326-5191, 06/2019, Volume 71, Issue 6, pp. 983 - 990
Journal Article