Works matching DE "LOEYS-Dietz syndrome"
Results: 93
Delayed diagnosis of Loeys‐Dietz syndrome revealed through atrial septal defect with pulmonary artery dilation.
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- Echocardiography, 2024, v. 41, n. 6, p. 1, doi. 10.1111/echo.15851
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- Article
Aggressive Aortic Replacement for Loeys-Dietz Syndrome.
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- Texas Heart Institute Journal, 2011, v. 38, n. 6, p. 663
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- Article
Systemic vascular phenotypes of Loeys-Dietz syndrome in a child carrying a de novo R381P mutation in TGFBR2: a case report.
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- 2013
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- Case Study
Endovascular treatment of a dural arteriovenous fistula in a patient with Loeys-Dietz syndrome: A case report.
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- 2017
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- Case Study
Dysregulated TGF-β signaling alters bone microstructure in a mouse model of Loeys-Dietz syndrome.
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- Journal of Orthopaedic Research, 2015, v. 33, n. 10, p. 1447, doi. 10.1002/jor.22920
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- Article
Pulmonary artery rupture after bilateral pulmonary artery banding in a neonate with Loeys-Dietz syndrome and an interrupted aortic arch complex: report of a case.
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- Surgery Today, 2015, v. 45, n. 4, p. 495, doi. 10.1007/s00595-014-0910-8
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- Article
Surgical Recommendations in Ehlers-Danlos Syndrome(s) Need Patient Classification: The Example of Ehlers-Danlos Syndrome Hypermobility Type (a.k.a. Joint Hypermobility Syndrome).
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- Digestive Surgery, 2013, v. 29, n. 6, p. 453, doi. 10.1159/000346068
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- Article
Asthma and allergy: TGFβ - too much of a good thing?
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- Nature Reviews Immunology, 2013, v. 13, n. 9, p. 618, doi. 10.1038/nri3519
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- Article
Aortic Disease in the Young: Genetic Aneurysm Syndromes, Connective Tissue Disorders, and Familial Aortic Aneurysms and Dissections.
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- International Journal of Vascular Medicine, 2013, p. 1, doi. 10.1155/2013/267215
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- Article
Recurrent Infective Endocarditis in an Adolescent due to Streptococcus agalactiae: A Rare Presentation of a Common Pathogen.
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- Oman Medical Journal, 2023, v. 38, n. 5, p. 8, doi. 10.5001/omj.2023.56
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- Article
Pregnancy with Loeys-Dietz: care informed by case series.
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- 2019
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- journal article
Aortic flow dynamics and stiffness in Loeys–Dietz syndrome patients: a comparison with healthy volunteers and Marfan syndrome patients.
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- European Heart Journal - Cardiovascular Imaging, 2022, v. 23, n. 5, p. 641, doi. 10.1093/ehjci/jeab069
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- Article
Mitral annulus disjunction is associated with adverse outcome in Marfan and Loeys–Dietz syndromes.
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- European Heart Journal - Cardiovascular Imaging, 2021, v. 22, n. 9, p. 1035, doi. 10.1093/ehjci/jeaa324
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- Article
The Genetics of Aortopathies in Clinical Cardiology.
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- Clinical Medicine Insights: Cardiology, 2017, v. 11, p. 1, doi. 10.1177/1179546817709787
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- Article
Aortic root aneurysm repair in a neonate with Loeys-Dietz syndrome.
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- 2021
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- journal article
Isolated aortic dilation without osteoarthritis: a case of SMAD3 mutation.
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- 2018
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- journal article
Massive aortic root aneurysm in an infant with the Loeys-Dietz syndrome.
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- 2017
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- journal article
Sudden death due to aortic pathology.
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- 2017
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- journal article
Aneurysms of the Ascending Aorta.
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- Deutsches Ärzteblatt International, 2012, v. 109, n. 29/30, p. 504, doi. 10.3238/arztebl.2012.0504a
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- Article
Diagnostic Accuracy of Aortic Root Cross-sectional Area/Height Ratio in Children and Young Adults with Marfan and Loeys-Dietz Syndrome.
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- Congenital Heart Disease, 2016, v. 11, n. 3, p. 276, doi. 10.1111/chd.12315
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- Article
Imaging and Percutaneous Occlusion of a Large Aneurysm of the Ductus Arteriosus in an Infant with Loeys- Dietz Syndrome.
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- Congenital Heart Disease, 2013, v. 8, n. 6, p. E192, doi. 10.1111/chd.12041
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- Article
Transarterial coil embolization of an aortic root pseudoaneurym in a patient with Loeys-Dietz syndrome: a case report.
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- CVIR Endovascular, 2020, v. 3, n. 1, p. 1, doi. 10.1186/s42155-020-00184-5
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- Article
Beals syndrome (congenital contractural arachnodactyly): prenatal ultrasound findings and molecular analysis.
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- Ultrasound in Obstetrics & Gynecology, 2014, v. 44, n. 4, p. 486, doi. 10.1002/uog.13350
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- Article
Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome.
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- Case Reports in Genetics, 2017, p. 1, doi. 10.1155/2017/7263780
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- Article
A late presentation of Loeys–Dietz syndrome: joint hypermobility is not always benign.
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- 2014
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- Letter to the Editor
The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.
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- European Journal of Human Genetics, 2015, v. 23, n. 2, p. 224, doi. 10.1038/ejhg.2014.61
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- Article
Patient out of control: diagnostic and treatment dilemmas in Loeys-Dietz syndrome.
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- Folia Cardiologica, 2022, v. 17, n. 6, p. 363, doi. 10.5603/FC.a2021.0027
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- Article
Successful Open Repair of a Thoracoabdominal Aortic Aneurysm After Multiple Failed Endovascular Treatments in a 22-Years-Old Individual With Loeys-Dietz Syndrome.
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- Vascular & Endovascular Surgery, 2025, v. 59, n. 2, p. 218, doi. 10.1177/15385744241285112
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- Article
Open Surgical Repair in a Patient With Loeys-Dietz Syndrome and Extensive Vascular Compromise: A Case Report and Literature Review.
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- Vascular & Endovascular Surgery, 2025, v. 59, n. 1, p. 101, doi. 10.1177/15385744241284383
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- Article
Like Father like Daughter: Surgical Redo Thoracoabdominal Aneurysm Repairs in a Family With Loeys-Dietz Syndrome.
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- Vascular & Endovascular Surgery, 2025, v. 59, n. 1, p. 93, doi. 10.1177/15385744241279139
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- Article
Complete Aortic Replacement in a Patient With Loeys-Dietz Syndrome.
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- Vascular & Endovascular Surgery, 2022, v. 56, n. 8, p. 767, doi. 10.1177/15385744221109037
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- Article
Outcomes of Thoracic Endovascular Aneurysm Repair (TEVAR) in Patients With Connective Tissue Disorders.
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- Vascular & Endovascular Surgery, 2020, v. 54, n. 8, p. 676, doi. 10.1177/1538574420945070
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- Article
Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome.
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- Journal of Human Genetics, 2012, v. 57, n. 6, p. 398, doi. 10.1038/jhg.2012.42
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- Article
Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome.
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- Journal of Human Genetics, 2012, v. 57, n. 1, p. 52, doi. 10.1038/jhg.2011.130
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- Article
Loeys–Dietz syndrome in pregnancy.
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- Obstetric Medicine (1753-495X), 2021, v. 14, n. 1, p. 42, doi. 10.1177/1753495X19852819
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- Article
Marfan's syndrome and other aortopathies in pregnancy.
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- Obstetric Medicine (1753-495X), 2013, v. 6, n. 3, p. 112, doi. 10.1177/1753495X13496237
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- Article
Phenotypic variability and diffuse arterial lesions in a family with Loeys-Dietz syndrome type 4.
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- Clinical Genetics, 2017, v. 91, n. 3, p. 458, doi. 10.1111/cge.12838
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Systematic review of the psychosocial aspects of living with Marfan syndrome.
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- Clinical Genetics, 2015, v. 87, n. 2, p. 109, doi. 10.1111/cge.12422
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- Article
Cardiovascular manifestations in Marfan syndrome and related diseases; multiple genes causing similar phenotypes.
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- Clinical Genetics, 2015, v. 87, n. 1, p. 11, doi. 10.1111/cge.12436
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- Article
Dural ectasia in Loeys-Dietz syndrome: comprehensive study of 30 patients with a TGFBR1 or TGFBR2 mutation.
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- Clinical Genetics, 2014, v. 86, n. 6, p. 545, doi. 10.1111/cge.12308
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- Article
Detection of 15 novel mutations in 52 children from 40 families with the Marfan or Loeys-Dietz syndrome and phenotype-genotype correlations.
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- Clinical Genetics, 2014, v. 86, n. 6, p. 552, doi. 10.1111/cge.12314
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- Article
Genetics Corner: Syndromic Etiology of Apparently Isolated Clubfeet: a Child with Loeys-Dietz Syndrome.
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- Neonatology Today, 2022, v. 17, n. 4, p. 127
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- Article
Hemophagocytic Lymphohistiocytosis in Loeys-Dietz Syndrome.
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- 2018
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- Case Study
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm.
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- Nature Genetics, 2012, v. 44, n. 8, p. 922, doi. 10.1038/ng.2349
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- Article
The paradoxical TGF-? vasculopathies.
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- Nature Genetics, 2012, v. 44, n. 8, p. 838, doi. 10.1038/ng.2366
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- Article
Lineage-specific events underlie aortic root aneurysm pathogenesis in Loeys-Dietz syndrome.
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- 2019
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- journal article
Angiotensin II-dependent TGF-β signaling contributes to Loeys-Dietz syndrome vascular pathogenesis.
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- 2014
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- journal article
Angiotensin II--dependent TGF-β signaling contributes to Loeys-Dietz syndrome vascular pathogenesis.
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- Journal of Clinical Investigation, 2014, v. 124, n. 1, p. 448, doi. 10.1172/JCI69666
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- Article
Aortic aneurysms in Loeys-Dietz syndrome -- a tale of two pathways?
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- Journal of Clinical Investigation, 2014, v. 124, n. 1, p. 79, doi. 10.1172/JCI73906
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- Article
Modulation of noncanonical TGF-β signaling prevents cleft palate in Tgfbr2 mutant mice.
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- Journal of Clinical Investigation, 2012, v. 122, n. 3, p. 873, doi. 10.1172/JCI61498
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- Article