Works matching DE "LOEYS-Dietz syndrome"

Results: 95

Hemodynamic instability during anesthesia in an adolescent with Loeys- Dietz syndrome: a case report.

Published in:

Pediatric Anesthesia, 2014, v. 24, n. 12, p. 1302, doi. 10.1111/pan.12511

By:

Bunting, Alexandra C.;
Bould, M. Dylan

Publication type:

Article

Unilateral Tongue Atrophy in SMAD3: A Case Report.

Published in:

Nursing & Health Sciences Research Journal, 2024, v. 7, n. 1, p. 195, doi. 10.55481/2578-3750.1201

By:

Galloway, Gloria

Publication type:

Article

Transarterial coil embolization of an aortic root pseudoaneurym in a patient with Loeys-Dietz syndrome: a case report.

Published in:

CVIR Endovascular, 2020, v. 3, n. 1, p. 1, doi. 10.1186/s42155-020-00184-5

By:

D'Ortenzio, Robert;
Cardarelli-Leite, Leandro;
Dhatt, Ravjot;
Saw, Jacqueline;
Heran, Manraj

Publication type:

Article

Prosthetic graft replacement of a large subclavian aneurysm in a child with Loeys–Dietz syndrome: a case report.

Published in:

2020

By:

Sobh, Mohamed;
Voges, Inga;
Attmann, Tim;
Scheewe, Jens

Publication type:

Case Study

Manifestations and Medicolegal Significance of Loeys-Dietz Syndrome.

Published in:

Journal of Forensic Sciences, 2017, v. 62, n. 6, p. 1512, doi. 10.1111/1556-4029.13466

By:

Byard, Roger W.

Publication type:

Article

Cerebral aneurysm in a patient with Loeys-Dietz syndrome.

Published in:

2014

By:

Zenteno, Marco;
Lee, Angel;
Alvis-Miranda, Hernando Raphael;
Moscote-Salazar, Luis Rafael

Publication type:

Letter to the Editor

Recurrent Infective Endocarditis in an Adolescent due to Streptococcus agalactiae: A Rare Presentation of a Common Pathogen.

Published in:

Oman Medical Journal, 2023, v. 38, n. 5, p. 8, doi. 10.5001/omj.2023.56

By:

Al Busaidi, Noora;
Al-Maani, Amal;
Al Farqani, Abdullah;
Altahir, Nuha;
Al Jardani, Amina

Publication type:

Article

Inherited aortopathy: an overview.

Published in:

British Journal of Cardiac Nursing, 2023, v. 18, n. 5, p. 1, doi. 10.12968/bjca.2023.0014

By:

Mamombe, Fortunate;
Renwick, Catherine;
Potterton, Amanda;
Wilson, Elizabeth;
Romer, Carolyn;
Kalathiparambil, Rachana;
Banerjee, Anita;
Magboo, Rosalie

Publication type:

Article

Pseudoaneurysm formation after valve sparing root replacement in children with Loeys-Dietz syndrome.

Published in:

2018

By:

Liu, Rui H.;
Fraser, III, Charles D.;
Zhou, Xun;
Cameron, Duke E.;
Vricella, Luca A.;
Hibino, Narutoshi;
Fraser, Charles D 3rd

Publication type:

journal article

Repair of an aneurysm of the ascending aorta and arch in an infant with Loeys-Dietz syndrome.

Published in:

2018

By:

Jaiswal, Pratiksha;
Shetty, Varun;
Patel, Ebrahim;
Shetty, Deviprasad

Publication type:

journal article

Adults with Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome: a cross-sectional study of patient experiences with physical activity.

Published in:

Disability & Rehabilitation, 2022, v. 44, n. 10, p. 1968, doi. 10.1080/09638288.2020.1815874

By:

Johansen, Heidi;
Velvin, Gry;
Lidal, Ingeborg

Publication type:

Article

Physical exercise for people with hereditable thoracic aortic disease. A study of patient perspectives.

Published in:

Disability & Rehabilitation, 2021, v. 43, n. 17, p. 2464, doi. 10.1080/09638288.2019.1703145

By:

Velvin, Gry;
Johansen, Heidi;
Vardeberg, Kjersti;
Sjögren Fugl-Meyer, Kerstin;
Wilhelmsen, Jan-Erik;
Lidal, Ingeborg

Publication type:

Article

Aortic Disease in the Young: Genetic Aneurysm Syndromes, Connective Tissue Disorders, and Familial Aortic Aneurysms and Dissections.

Published in:

International Journal of Vascular Medicine, 2013, p. 1, doi. 10.1155/2013/267215

By:

Cury, Marcelo;
Zeidan, Fernanda;
Lobato, Armando C.

Publication type:

Article

Genetics Corner: Syndromic Etiology of Apparently Isolated Clubfeet: a Child with Loeys-Dietz Syndrome.

Published in:

Neonatology Today, 2022, v. 17, n. 4, p. 127

By:

Ramanathan, Subhadra;
Clark, Robin Dawn

Publication type:

Article

Aneurysms of the Ascending Aorta.

Published in:

Deutsches Ärzteblatt International, 2012, v. 109, n. 29/30, p. 504, doi. 10.3238/arztebl.2012.0504a

By:

Kuklinski, Michael;
Schmidtke, Jörg;
Kodolitsch, Yskert von;
Lavall, Daniel;
Böhm, Michael;
Laufs, Ulrich;
Schäfers, Hans-Joachim

Publication type:

Article

Hemophagocytic Lymphohistiocytosis in Loeys-Dietz Syndrome.

Published in:

2018

By:

Biggin, Andrew;
Enriquez, Annabelle;
Wong, Melanie;
Bennetts, Bruce;
Lau, Chiyan;
Chan, Cheng Yee;
Pinner, Jason;
Adelstein, Stephen;
Adès, Lesley C.

Publication type:

Case Study

Dysregulated TGF-β signaling alters bone microstructure in a mouse model of Loeys-Dietz syndrome.

Published in:

Journal of Orthopaedic Research, 2015, v. 33, n. 10, p. 1447, doi. 10.1002/jor.22920

By:

Dewan, Ashvin K.;
Tomlinson, Ryan E.;
Mitchell, Stuart;
Goh, Brian C.;
Yung, Rachel M.;
Kumar, Sarvesh;
Tan, Eric W.;
Faugere, Marie‐Claude;
Dietz, Harry C.;
Clemens, Thomas L.;
Sponseller, Paul D.

Publication type:

Article

Arterial tortuosity and aneurysm in a case of Loeys-Dietz syndrome type IB with a mutation p.RS37P in the TGFBR2 gene.

Published in:

Turkish Journal of Pediatrics, 2012, v. 54, n. 2, p. 198

By:

Kılıc, Esra;
Alanay, Yasemin;
Ütine, Eda;
Özgen-Mocan, Burçe;
Robinson, Peter N.;
Boduroğlu, Koray

Publication type:

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.

Published in:

Surgery Today, 2015, v. 45, n. 4, p. 495, doi. 10.1007/s00595-014-0910-8

By:

Ozawa, Hideto;
Kawata, Hiroaki;
Iwai, Shigemitsu;
Yamauchi, Sanae;
Kanaya, Tomomitsu;
Kishimoto, Hidefumi

Publication type:

Article

Pregnancy with Loeys-Dietz: care informed by case series.

Published in:

2019

By:

Metz, T

Publication type:

journal article

Loeys–Dietz syndrome in pregnancy.

Published in:

Obstetric Medicine (1753-495X), 2021, v. 14, n. 1, p. 42, doi. 10.1177/1753495X19852819

By:

Thomas, Katharine E;
Hogan, Jennifer;
Pitcher, Alex;
Mackillop, Lucy;
Blair, Edward;
Frise, Charlotte J

Publication type:

Article

Marfan's syndrome and other aortopathies in pregnancy.

Published in:

Obstetric Medicine (1753-495X), 2013, v. 6, n. 3, p. 112, doi. 10.1177/1753495X13496237

By:

Stewart, Fiona M.

Publication type:

Article

Thymoma Associated with Loeys-Dietz Syndrome Type 1.

Published in:

2012

By:

ALP, Hayrullah;
ŞP, Fatih;
ALTIN, Hakan;
KARATŞ, Zehra;
BAYSAL, Tamer;
KARAASLAN, Sevim;
PEKCAN, Sevgi

Publication type:

Case Study

Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm.

Published in:

Nature Genetics, 2012, v. 44, n. 8, p. 922, doi. 10.1038/ng.2349

By:

Lindsay, Mark E;
Schepers, Dorien;
Bolar, Nikhita Ajit;
Doyle, Jefferson J;
Gallo, Elena;
Fert-Bober, Justyna;
Kempers, Marlies J E;
Fishman, Elliot K;
Chen, Yichun;
Myers, Loretha;
Bjeda, Djahita;
Oswald, Gretchen;
Elias, Abdallah F;
Levy, Howard P;
Anderlid, Britt-Marie;
Yang, Margaret H;
Bongers, Ernie M H F;
Timmermans, Janneke;
Braverman, Alan C;
Canham, Natalie

Publication type:

Article

The paradoxical TGF-? vasculopathies.

Published in:

Nature Genetics, 2012, v. 44, n. 8, p. 838, doi. 10.1038/ng.2366

By:

Akhurst, Rosemary J.

Publication type:

Article

Endovascular treatment of thoracoabdominal aortic aneurysm in Loeys-Dietz syndrome.

Published in:

Polish Heart Journal / Kardiologia Polska, 2018, v. 76, n. 5, p. 926, doi. 10.5603/KP.2018.0102

By:

Jakimowicz, Tomasz;
Macech, Michał;
Hammer, Piotr;
Grochowiecki, Tadeusz;
Nazarewski, Sławomir

Publication type:

Article

Cleft Palate and Aortic Dilatation as Clues for Loeys–Dietz Syndrome.

Published in:

Children, 2022, v. 9, n. 9, p. N.PAG, doi. 10.3390/children9091290

By:

Zaza, Pierluigi;
Indrio, Flavia;
Fracchiolla, Annalisa;
Rinaldi, Matteo;
Meliota, Giovanni;
Salatto, Alessia;
Bonacaro, Antonio;
Maffei, Gianfranco

Publication type:

Article

Successful Open Repair of a Thoracoabdominal Aortic Aneurysm After Multiple Failed Endovascular Treatments in a 22-Years-Old Individual With Loeys-Dietz Syndrome.

Published in:

Vascular & Endovascular Surgery, 2025, v. 59, n. 2, p. 218, doi. 10.1177/15385744241285112

By:

Santoro, Annarita;
Rizk, Mohamed;
Inga Tavara, Laura;
Ramadan, Moh'd Shafiq;
Melissano, Germano

Publication type:

Article

Open Surgical Repair in a Patient With Loeys-Dietz Syndrome and Extensive Vascular Compromise: A Case Report and Literature Review.

Published in:

Vascular & Endovascular Surgery, 2025, v. 59, n. 1, p. 101, doi. 10.1177/15385744241284383

By:

Polania-Sandoval, Camilo A.;
Farres, Houssam;
Lanka, Santh Prakash;
Erben, Young

Publication type:

Article

Like Father like Daughter: Surgical Redo Thoracoabdominal Aneurysm Repairs in a Family With Loeys-Dietz Syndrome.

Published in:

Vascular & Endovascular Surgery, 2025, v. 59, n. 1, p. 93, doi. 10.1177/15385744241279139

By:

Chen, Joshua R.;
Shah, Vishal N.;
Pritting, Christopher;
Nooromid, Michael;
Abai, Babak;
Plestis, Konstadinos

Publication type:

Article

Complete Aortic Replacement in a Patient With Loeys-Dietz Syndrome.

Published in:

Vascular & Endovascular Surgery, 2022, v. 56, n. 8, p. 767, doi. 10.1177/15385744221109037

By:

Darigny, Sandrine;
Astarci, Parla;
Elens, Maxime

Publication type:

Article

Outcomes of Thoracic Endovascular Aneurysm Repair (TEVAR) in Patients With Connective Tissue Disorders.

Published in:

Vascular & Endovascular Surgery, 2020, v. 54, n. 8, p. 676, doi. 10.1177/1538574420945070

By:

Qato, Khalil;
Conway, Allan;
Lu, Eileen;
Tran, Nhan Nguyen;
Giangola, Gary;
Carroccio, Alfio

Publication type:

Article

Aneurismas de aorta abdominal e ilíaca y síndrome de Loeys- Dietz.

Published in:

2013

By:

Ortiz Limonta, David;
De la Guardia, Dalia Sánchez;
Chércoles Cazate, Lilia

Publication type:

Case Study

Beals syndrome (congenital contractural arachnodactyly): prenatal ultrasound findings and molecular analysis.

Published in:

Ultrasound in Obstetrics & Gynecology, 2014, v. 44, n. 4, p. 486, doi. 10.1002/uog.13350

By:

Inbar‐Feigenberg, M.;
Meirowitz, N.;
Nanda, D.;
Toi, A.;
Okun, N.;
Chitayat, D.

Publication type:

Article

Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome.

Published in:

Case Reports in Genetics, 2017, p. 1, doi. 10.1155/2017/7263780

By:

Zimmermann, Michael T.;
Urrutia, Raul A.;
Blackburn, Patrick R.;
Cousin, Margot A.;
Boczek, Nicole J.;
Klee, Eric W.;
Macmurdo, Colleen;
Atwal, Paldeep S.

Publication type:

Article

The Genetics of Aortopathies in Clinical Cardiology.

Published in:

Clinical Medicine Insights: Cardiology, 2017, v. 11, p. 1, doi. 10.1177/1179546817709787

By:

Goyal, Amit;
Keramati, Ali R.;
Czarny, Matthew J.;
Resar, Jon R.;
Mani, Arya

Publication type:

Article

Systemic vascular phenotypes of Loeys-Dietz syndrome in a child carrying a de novo R381P mutation in TGFBR2: a case report.

Published in:

2013

By:

Kiyoshi Uike;
Yuki Matsushita;
Yasunari Sakai;
Osamu Togao;
Michinobu Nagao;
Yoshito Ishizaki;
Hazumu Nagata;
Kenichiro Yamamura;
Hiroyuki Torisu;
Toshiro Hara

Publication type:

Case Study

First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report.

Published in:

2018

By:

Baban, Anwar;
Magliozzi, Monia;
Loeys, Bart;
Adorisio, Rachele;
Alesi, Viola;
Secinaro, Aurelio;
Corica, Bernadette;
Vricella, Luca;
Dietz, Harry C.;
Drago, Fabrizio;
Novelli, Antonio;
Amodeo, Antonio

Publication type:

Case Study

Loeys-Dietz syndrome.

Published in:

2016

By:

Kontzialis, Marinos;
Kuyumcu, Gokhan;
Zamora, Carlos A.

Publication type:

journal article

Isolated aortic dilation without osteoarthritis: a case of SMAD3 mutation.

Published in:

2018

By:

Arroyave, Jose;
Carretero, Juan Manuel;
Gruosso, Domenico

Publication type:

journal article

Massive aortic root aneurysm in an infant with the Loeys-Dietz syndrome.

Published in:

2017

By:

Molina-Sánchez, Tatiana;
Calderón-Colmenero, Juan;
Sandoval, Juan Pablo

Publication type:

journal article

Sudden death due to aortic pathology.

Published in:

2017

By:

Papagiannis, John

Publication type:

journal article

Prenatal complex congenital heart disease with Loeys–Dietz syndrome.

Published in:

2012

By:

Kawazu, Yukiko;
Inamura, Noboru;
Kayatani, Futoshi;
Okamoto, Nobuhiko;
Morisaki, Hiroko

Publication type:

Case Study

Endovascular treatment of a dural arteriovenous fistula in a patient with Loeys-Dietz syndrome: A case report.

Published in:

2017

By:

Rie Aoki;
Kittipong Srivatanakul;
Takahiro Osada;
Kazuko Hotta;
Takatoshi Sorimachi;
Mitsunori Matsumae;
Hiroko Morisaki

Publication type:

Case Study

Diagnostic Accuracy of Aortic Root Cross-sectional Area/Height Ratio in Children and Young Adults with Marfan and Loeys-Dietz Syndrome.

Published in:

Congenital Heart Disease, 2016, v. 11, n. 3, p. 276, doi. 10.1111/chd.12315

By:

Mariucci, Elisabetta;
Donti, Andrea;
Guidarini, Marta;
Oppido, Guido;
Angeli, Emanuela;
Lovato, Luigi;
Wischmeijer, Anita;
Finlay, Malcolm;
Gargiulo, Gaetano D.;
Picchio, Fernando M.;
Bonvicini, Marco

Publication type:

Article

Imaging and Percutaneous Occlusion of a Large Aneurysm of the Ductus Arteriosus in an Infant with Loeys- Dietz Syndrome.

Published in:

Congenital Heart Disease, 2013, v. 8, n. 6, p. E192, doi. 10.1111/chd.12041

By:

Morgan, Gareth J.;
Yim, Deane L.S.;
Hayes, Alison M.;
Martin, Robin P.;
Hamilton, Mark C.K.;
Stuart, Graham

Publication type:

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.

Published in:

Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0038-x

By:

Hara, Hironori;
Takeda, Norifumi;
Fujiwara, Takayuki;
Yagi, Hiroki;
Maemura, Sonoko;
Kanaya, Tsubasa;
Nawata, Kan;
Morita, Hiroyuki;
Komuro, Issei

Publication type:

Article

Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 6, p. 398, doi. 10.1038/jhg.2012.42

By:

Hoon Yang, Jeong;
Ki, Chang-Seok;
Han, Hyejin;
Gun Song, Bong;
Yi Jang, Shin;
Chung, Tae-Young;
Sung, Kiick;
Jae Lee, Heung;
Kim, Duk-Kyung

Publication type:

Article

Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 1, p. 52, doi. 10.1038/jhg.2011.130

By:

Yang, Jeong Hoon;
Ki, Chang-Seok;
Han, Hyejin;
Song, Bong Gun;
Jang, Shin Yi;
Chung, Tae-Young;
Sung, Kiick;
Lee, Heung Jae;
Kim, Duk-Kyung

Publication type:

Article

Unveiling type B aortic dissection in Loeys–Dietz syndrome by transthoracic echocardiography: back to the root.

Published in:

European Heart Journal - Cardiovascular Imaging, 2025, v. 26, n. 5, p. 933, doi. 10.1093/ehjci/jeaf020

By:

Rietz, Michael;
Beun, Bram;
Dimov, Ivan;
David-Cojocariu, Aurelia;
Unger, Philippe

Publication type:

Article