Results 121 to 130 of about 32,663 (321)

Surgery for coarctation of the aorta in Iceland 1990-2006 [PDF]

, 2009
Neðst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn View/OpenBACKGROUND AND AIMS: Coarctation of the aorta (CoA) is a congenital narrowing of the aorta, distal to the origin of the left subclavian artery.
Bjarni Torfason, Gunnlaugur Sigfússon, Hróðmar Helgason, Sverrir I.Gunnarsson, Tómas Guðbjartsson   +4 more
core  

High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics

Clinical Genetics, EarlyView.
To assess the relevance of exome sequencing as a first‐tier diagnostic tool, three aspects were investigated: detection of copy number variants (CNVs) from exomes as compared to chromosomal microarray, clinically‐relevant CNVs across all sizes, and additional diagnostic utilities (uniparental disomy and triploidy).
Rivka Birnbaum, Maya Slovik, Shamir Zenvirt, Ilana Livyatan, Israel Altman, Shiri Gershon, Jonathan Rips, Hagit Daum, Chaggai Rosenbluh, Orly Elpeleg, Vardiella Meiner, Ayala Frumkin, Hagar Mor‐Shaked, Tamar Harel   +13 more
wiley   +1 more source

Assessment of Coarctation of Aorta Gradient: Echocardiogram-Catheterization Correlation. [PDF]

Am J Cardiol, 2023
Egbe AC, Anderson JH, Karnakoti S, Jain CC, Ahmed MH, Burchill LJ, Connolly HM, Miranda WR.   +7 more
europepmc   +1 more source

Immediate results of percutaneous management of coarctation of the aorta: A 7-year single-centre experience [PDF]

, 2020
Irina Steiner, Milan Prša
openalex   +1 more source

Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly–Macrocephaly Syndrome

Clinical Genetics, EarlyView.
We identified a recurrent heterozygous MAX c.179G>A:p.Arg60Gln variant in two unrelated females affected with the emerging phenotypes of MAX‐associated polydactyly‐macrocephaly syndrome. We propose that genitourinary abnormalities, including Mayer–Rokitanski–Kuster–Hauser syndrome in one individual, are an expansion of the known phenotypes associated ...
Iftekhar A. Showpnil, Neta Feinstein‐Goren, Lior Greenbaum, Ortal Barel, Daniel C. Koboldt, Samantha A. Brugmann, Kathryn Nicole Weaver, Anne Slavotinek, Ben Pode‐Shakked, Rolf W. Stottmann   +9 more
wiley   +1 more source

Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22–23 Deletions

Clinical Genetics, EarlyView.
The frequency and severity of congenital heart disease vary extensively in individuals with 22q11.22–23 distal deletions. Reduced gene dosage particularly within the low copy repeat (LCR22) D–E region including MAPK1 and HIC2 conveys risk for these defects.
Tanner J. Nelson, Daniel E. McGinn, T. Blaine Crowley, Lydia Rockart, Audrey Green, Victoria Giunta, Oanh Tran, Daniella Miller, Jeroen Breckpot, Ann Swillen, M. Cristina Digilio, Marta Unolt, Carolina Putotto, Federica Pulvirenti, Bruno Marino, Beverly S. Emanuel, Elaine H. Zackai, Zhengdong D. Zhang, Elizabeth Goldmuntz, Erik Boot, Anne S. Bassett, Bernice E. Morrow, Donna M. McDonald‐McGinn   +22 more
wiley   +1 more source

Anatomic reconstruction of recurrent aortic arch obstruction in children [PDF]

, 2017
Objective: Anatomical reconstruction of the aortic arch following aortic arch surgery is challenging. The placement of an extra-anatomical aortic bypass has been proposed for these difficult cases.
Bettex, Dominique, Dave, Hitendu, Kadner, Alexander, Prêtre, René, Turina, Marko I., Valsangiacomo-Buechel, Emanuela   +5 more
core  

Aortoesophageal fistula secondary to stent-graft repair of the thoracic aorta after previous surgical coarctation repair [PDF]

, 2007
Kirkpatrick C. Santo, Peter Guest, Ian McCafferty, Robert S. Bonser   +3 more
openalex   +1 more source

Pulmonary Vascular Endothelial Cells in Lung Diseases: Mechanisms, Therapeutic Strategies, and Future Directions

Cell Proliferation, EarlyView.
The pathogenic mechanisms of pulmonary vascular endothelial cells (VECs) in lung diseases and their multimodal therapeutic strategies. ABSTRACT Pulmonary vascular endothelial cells (VECs) are essential for the normal function of the lung, through maintaining vascular barrier integrity, regulating blood flow, and participating in inflammatory responses ...
Qianyue Liu, Hongshuai Zheng, Jing Liu, Ming Gao, Faquan Lin, Lin Liao   +5 more
wiley   +1 more source

Adult congenital aortic coarctation complicated by acute type a aortic intramural hematoma treated with a staged hybrid technique: a case report

Journal of Cardiothoracic Surgery
Background Coarctation of the aorta (CoA) in adults is rare. usually combined with dilatation of the ascending aorta. Further disease progression complicated by hematoma or dissection of the ascending aorta is even more complicated and dangerous.
Haoyou Li, Min Wang, Haoyue Li, Wenfeng Zhang, Jiantao Wu, Zhaozhuo Niu, Lianjie Sun   +6 more
doaj   +1 more source