Works matching DE "LOEYS-Dietz syndrome"
Results: 93
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
Aneurismas de aorta abdominal e ilíaca y síndrome de Loeys- Dietz.
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- 2013
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- Case Study
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
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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- Publication type:
- Case Study
Cardiovascular involvement and prognosis in Loeys-Dietz syndrome.
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- Polish Heart Journal / Kardiologia Polska, 2023, v. 81, n. 11, p. 1096, doi. 10.33963/v.kp.97390
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- Article
Arterial tortuosity index, a promising imaging marker for early detection of Loeys-Dietz syndrome.
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- Polish Heart Journal / Kardiologia Polska, 2023, v. 81, n. 11, p. 1067, doi. 10.33963/v.kp.98163
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- Article
Simultaneous surgical treatment of an aortic root aneurysm and pectus excavatum in a child with Loeys-Dietz syndrome.
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- Polish Heart Journal / Kardiologia Polska, 2022, v. 80, n. 7/8, p. 865, doi. 10.33963/KP.a2022.0156
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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
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
Adults with Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome: a cross-sectional study of patient experiences with physical activity.
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- Disability & Rehabilitation, 2022, v. 44, n. 10, p. 1968, doi. 10.1080/09638288.2020.1815874
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- Article
Physical exercise for people with hereditable thoracic aortic disease. A study of patient perspectives.
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- Disability & Rehabilitation, 2021, v. 43, n. 17, p. 2464, doi. 10.1080/09638288.2019.1703145
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- Article
Cerebral aneurysm in a patient with Loeys-Dietz syndrome.
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- 2014
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- Publication type:
- Letter to the Editor
Endovascular treatment of thoracoabdominal aortic aneurysm in Loeys-Dietz syndrome.
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- Polish Heart Journal / Kardiologia Polska, 2018, v. 76, n. 5, p. 926, doi. 10.5603/KP.2018.0102
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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
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
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
Low bone mass and high material bone density in two patients with Loeys-Dietz syndrome caused by transforming growth factor beta receptor 2 mutations.
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- Journal of Bone & Mineral Research, 2012, v. 27, n. 3, p. 713, doi. 10.1002/jbmr.1470
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- Article
Postoperative mitral leaflet rupture in an infant with Loeys-Dietz syndrome.
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- Pediatrics International, 2014, v. 56, n. 6, p. e82, doi. 10.1111/ped.12430
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- Article
Thymoma Associated with Loeys-Dietz Syndrome Type 1.
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- 2012
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- Publication type:
- Case Study
Pediatric Bentall procedure for giant ascending aortic aneurysm in Loeys--Dietz syndrome.
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- Annals of Pediatric Cardiology, 2023, v. 16, n. 3, p. 223, doi. 10.4103/apc.apc_22_23
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- Article
Massive ductal aneurysm in an asymptomatic child with Loeys-Dietz syndrome.
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- Annals of Pediatric Cardiology, 2021, v. 14, n. 1, p. 113, doi. 10.4103/apc.APC_85_20
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- Article
Modified pediatric Bentall procedure: A novel technique in a rare case.
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- Annals of Pediatric Cardiology, 2016, v. 9, n. 3, p. 244, doi. 10.4103/0974-2069.189124
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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
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
Activation of TGF-β signaling in an aortic aneurysm in a patient with Loeys-Dietz syndrome caused by a novel loss-of-function variant of TGFBR1.
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- Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0038-x
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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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- Publication type:
- Letter to the Editor
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
Aortic root aneurysm repair in a neonate with Loeys-Dietz syndrome.
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- 2021
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- Publication type:
- journal article
Isolated aortic dilation without osteoarthritis: a case of SMAD3 mutation.
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- 2018
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- Publication type:
- 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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- Publication type:
- journal article
Prenatal complex congenital heart disease with Loeys–Dietz syndrome.
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- 2012
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- Publication type:
- Case Study
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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- Article
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
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
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
ADULTS WITH LOEYS-DIETZ SYNDROME AND VASCULAR EHLERS-DANLOS SYNDROME: A CROSS-SECTIONAL STUDY OF LIFE SATISFACTION.
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- Journal of Rehabilitation Medicine (Stiftelsen Rehabiliteringsinformation), 2021, v. 53, n. 11, p. 1, doi. 10.2340/jrm.v53.572
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- Article