Works matching DE "LOEYS-Dietz syndrome"

Results: 94

Surgical Recommendations in Ehlers-Danlos Syndrome(s) Need Patient Classification: The Example of Ehlers-Danlos Syndrome Hypermobility Type (a.k.a. Joint Hypermobility Syndrome).

Published in:

Digestive Surgery, 2013, v. 29, n. 6, p. 453, doi. 10.1159/000346068

By:

Castori, Marco

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

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

Aortic dilation in pediatric patients.

Published in:

2015

By:

Zarate, Yuri;
Sellars, Elizabeth;
Lepard, Tiffany;
Carlo, Waldemar;
Tang, Xinyu;
Collins, R.;
Zarate, Yuri A;
Carlo, Waldemar F;
Collins, R Thomas 2nd

Publication type:

journal article

Loeys-Dietz syndrome in a Southeast Asian Hospital: a case series.

Published in:

European Journal of Pediatrics, 2014, v. 173, n. 3, p. 387, doi. 10.1007/s00431-013-2187-0

By:

Ting, Teck;
Lai, Angeline;
Choo, Jonathan;
Tan, Teng

Publication type:

Article

Educational paper.

Published in:

European Journal of Pediatrics, 2013, v. 172, n. 8, p. 997, doi. 10.1007/s00431-012-1773-x

By:

Laer, Lut;
Proost, Dorien;
Loeys, Bart

Publication type:

Article

Delayed sclerotomy wound dehiscence after lensectomy and vitrectomy in Marfan syndrome.

Published in:

2015

By:

Sridhar, Jayanth;
Chang, Jonathan S.;
Aziz, Hassan A.;
Erickson, Benjamin P.

Publication type:

Case Study

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

Aggressive Aortic Replacement for Loeys-Dietz Syndrome.

Published in:

Texas Heart Institute Journal, 2011, v. 38, n. 6, p. 663

By:

Hughes, G. Chad

Publication type:

Article

Being The Genuine Me.

Published in:

Journal of Genetic Counseling, 2012, v. 21, n. 2, p. 220, doi. 10.1007/s10897-011-9446-x

By:

Oswald, Gretchen

Publication type:

Article

Loeys-Dietz syndrome.

Published in:

2016

By:

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

Publication type:

journal 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

Postoperative mitral leaflet rupture in an infant with Loeys-Dietz syndrome.

Published in:

Pediatrics International, 2014, v. 56, n. 6, p. e82, doi. 10.1111/ped.12430

By:

Nishida, Koichi;
Tamura, Satoshi;
Yamazaki, Sachiko;
Sugita, Ryo;
Yamagishi, Masaaki;
Noriki, Sakon;
Morisaki, Hiroko

Publication type:

Article

Cardiovascular involvement and prognosis in Loeys-Dietz syndrome.

Published in:

Polish Heart Journal / Kardiologia Polska, 2023, v. 81, n. 11, p. 1096, doi. 10.33963/v.kp.97390

By:

Chmielewski, Przemysław;
Ponińska, Joanna K.;
Michalak, Ewa;
Michałowska, Ilona;
Kowalik, Ilona;
Truszkowska, Grażyna;
Kugaudo, Monika;
Minota, Ilona;
Stawiński, Piotr;
Płoski, Rafał;
Bilińska, Zofia T.

Publication type:

Article

Arterial tortuosity index, a promising imaging marker for early detection of Loeys-Dietz syndrome.

Published in:

Polish Heart Journal / Kardiologia Polska, 2023, v. 81, n. 11, p. 1067, doi. 10.33963/v.kp.98163

By:

Pepe, Guglielmina;
Mariucci, Elisabetta;
Nistri, Stefano

Publication type:

Article

Simultaneous surgical treatment of an aortic root aneurysm and pectus excavatum in a child with Loeys-Dietz syndrome.

Published in:

Polish Heart Journal / Kardiologia Polska, 2022, v. 80, n. 7/8, p. 865, doi. 10.33963/KP.a2022.0156

By:

Buczyński, Michał;
Szymczak, Karolina;
Kuźma, Jacek;
Karolczak, Maciej;
Zawadzki, Michał;
Kopacz, Paulina;
Safijan, Mateusz;
Kuśmierczyk, Mariusz

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

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

Aortic flow dynamics and stiffness in Loeys–Dietz syndrome patients: a comparison with healthy volunteers and Marfan syndrome patients.

Published in:

European Heart Journal - Cardiovascular Imaging, 2022, v. 23, n. 5, p. 641, doi. 10.1093/ehjci/jeab069

By:

Ruiz-Muñoz, Aroa;
Guala, Andrea;
Rodriguez-Palomares, Jose;
Dux-Santoy, Lydia;
Servato, Luz;
Lopez-Sainz, Angela;
Mura, Lucia La;
Granato, Chiara;
Limeres, Javier;
Gonzalez-Alujas, Teresa;
Galián-Gay, Laura;
Gutiérrez, Laura;
Johnson, Kevin;
Wieben, Oliver;
Sao-Aviles, Augusto;
Ferreira-Gonzalez, Ignacio;
Evangelista, Arturo;
Teixido-Tura, Gisela

Publication type:

Article

Mitral annulus disjunction is associated with adverse outcome in Marfan and Loeys–Dietz syndromes.

Published in:

European Heart Journal - Cardiovascular Imaging, 2021, v. 22, n. 9, p. 1035, doi. 10.1093/ehjci/jeaa324

By:

Chivulescu, Monica;
Krohg-Sørensen, Kirsten;
Scheirlynck, Esther;
Lindberg, Beate R;
Dejgaard, Lars A;
Lie, Øyvind H;
Helle-Valle, Thomas;
Skjølsvik, Eystein T;
Estensen, Mette E;
Edvardsen, Thor;
Lingaas, Per S;
Haugaa, Kristina H

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

Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation.

Published in:

BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/s12881-014-0091-8

By:

Ritelli, Marco;
Chiarelli, Nicola;
Dordoni, Chiara;
Quinzani, Stefano;
Venturini, Marina;
Maroldi, Roberto;
Calzavara-Pinton, Piergiacomo;
Colombi, Marina

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

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

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

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

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

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

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

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

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

Delayed diagnosis of Loeys‐Dietz syndrome revealed through atrial septal defect with pulmonary artery dilation.

Published in:

Echocardiography, 2024, v. 41, n. 6, p. 1, doi. 10.1111/echo.15851

By:

Zamora, Karina Del Valle;
Fernandez‐Sandoval, Maria Fernanda;
Quiroz‐Martinez‐Martinez, Victor Alejandro;
Vera‐Chavez, Jacobo Sebastian;
Martinez‐Dominguez, Pavel;
Espinola‐Zavaleta, Nilda

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

The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 2, p. 224, doi. 10.1038/ejhg.2014.61

By:

Schepers, Dorien;
Doyle, Alexander J;
Oswald, Gretchen;
Sparks, Elizabeth;
Myers, Loretha;
Willems, Patrick J;
Mansour, Sahar;
Simpson, Michael A;
Frysira, Helena;
Maat-Kievit, Anneke;
Van Minkelen, Rick;
Hoogeboom, Jeanette M;
Mortier, Geert R;
Titheradge, Hannah;
Brueton, Louise;
Starr, Lois;
Stark, Zornitza;
Ockeloen, Charlotte;
Lourenco, Charles Marques;
Blair, Ed

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

Pediatric Bentall procedure for giant ascending aortic aneurysm in Loeys--Dietz syndrome.

Published in:

Annals of Pediatric Cardiology, 2023, v. 16, n. 3, p. 223, doi. 10.4103/apc.apc_22_23

By:

Sicim, Hüseyin;
Ulucan, Ali Ertan;
Yurdakök, Okan;
Aydemir, Numan Ali

Publication type:

Article

Massive ductal aneurysm in an asymptomatic child with Loeys-Dietz syndrome.

Published in:

Annals of Pediatric Cardiology, 2021, v. 14, n. 1, p. 113, doi. 10.4103/apc.APC_85_20

By:

Siddiqui, Saira;
Polanco, Antonio;
DiLorenzo, Michael;
Shah, Amee;
Snyder, Michael;
Dietz, Harry;
Bacha, Emile;
Farooqi, Kanwal

Publication type:

Article

Modified pediatric Bentall procedure: A novel technique in a rare case.

Published in:

Annals of Pediatric Cardiology, 2016, v. 9, n. 3, p. 244, doi. 10.4103/0974-2069.189124

By:

Salve, Gananjay G.;
Javali, Satish R.;
Dalvi, Bharat V.;
Krishnanaik, Shivaprakash

Publication type:

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.

Published in:

Journal of Bone & Mineral Research, 2012, v. 27, n. 3, p. 713, doi. 10.1002/jbmr.1470

By:

Ben Amor, I Mouna;
Edouard, Thomas;
Glorieux, Francis H;
Chabot, Gilles;
Tischkowitz, Marc;
Roschger, Paul;
Klaushofer, Klaus;
Rauch, Frank

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

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

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

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

Aortic root aneurysm repair in a neonate with Loeys-Dietz syndrome.

Published in:

2021

By:

Li, Willa;
Cohen, William;
Combs, Pamela;
Wong, Joshua;
Loomba, Rohit;
Lee, Brian K.;
El-Zein, Chawki;
Ilbawi, Michel;
Vricella, Luca;
Hibino, Narutoshi

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