Results 261 to 270 of about 735,548 (339)

Thoracic Branching Endoprosthesis for Management of Coarctation of the Aorta With Subclavian Artery Involvement

Pradyumna Agasthi, Bernardo C. Mendes, Allison K. Cabalka, Randall R. DeMartino, Gabor Bagameri, Alexander C. Egbe, William R. Miranda, Jason H. Anderson   +7 more
openalex   +1 more source

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Germline ZFX variants are associated with an X‐linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20‐year‐old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by genome sequencing, previously reported in an affected male.
Iftekhar A. Showpnil, Allison Daley, Emily R. Sites, Shayne M. Plourde, Jesse M. Hunter, Dennis W. Bartholomew, April N. Lehman, Daniel C. Koboldt, Rolf W. Stottmann   +8 more
wiley   +1 more source

The Role of FDG-PET in the Diagnosis and Monitoring of Large-Vessel Vasculitis. [PDF]

Curr Rheumatol Rep
Tomelleri A, Campochiaro C, Grayson PC, Quinn KA.   +3 more
europepmc   +1 more source

Surgical treatment for aneurysm of ascending aorta and aortic arch using hypothermic total circulatory arrest.

, 1990
K. Abe
openalex   +2 more sources

Preferential elevation of protein kinase C isoform beta II and diacylglycerol levels in the aorta and heart of diabetic rats: differential reversibility to glycemic control by islet cell transplantation.

Proceedings of the National Academy of Sciences of the United States of America, 1992
T. Inoguchi, Ruggero BATTANt, Eugene HANDLERt, J. Sportsman, William Heaths, G. King   +5 more
semanticscholar   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Serum Lipoproteins in Interstitial Fluid of Normal Intima of Human Aorta and Pulmonary Arteries

, 1989
Kumiko Nakajima
openalex   +2 more sources

Mycotic aneurysms of the thoracic and abdominal aorta and iliac arteries: experience with anatomic and extra-anatomic repair in 33 cases.

Journal of Vascular Surgery, 2001
B. T. Müller, Otto Ruano Wegener, K. Grabitz, M. Pillny, Lutz Thomas, W. Sandmann   +5 more
semanticscholar   +1 more source

An Update on Smith‐Kingsmore Syndrome: Characterization of Developmental Milestones and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith‐Kingsmore syndrome (SKS) is a rare autosomal dominant condition characterized by neurodevelopmental differences, macrocephaly/megalencephaly, describable facial features, sleep–wake abnormalities, hyperphagia, and overgrowth. SKS is caused by pathogenic gain‐of‐function variants in MTOR which lead to hyperactivation of the mTOR pathway ...
Carolyn R. Raski, Carlos E. Prada
wiley   +1 more source

Pregnancy in Takayasu Arteritis: A Case Report of Successful Pregnancy in a Large Aortic Aneurysm. [PDF]

Clin Case Rep
Yadollahi M, Almasi S, Salehi M, Larti F, Daliri M, Sardari A.   +5 more
europepmc   +1 more source