Results 21 to 30 of about 72,557 (256)

Three-dimensional trans-esophageal echocardiographic evaluation of atrial Septal defects : a pictorial essay [PDF]

, 2011
This pictorial assay illustrates the methodology of evaluating the atrial septal defects by three dimensional transesophageal echocardiography with the help of representative images.
Shrivastava, Sameer, Sharma, Vinay Kumar, Radhakrishnan, Sitaraman   +2 more
core  

Lymphatic Abnormalities in Noonan Syndrome Extend Beyond Clinically Apparent Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Lymphatic disease represents a well‐described manifestation of Noonan syndrome (NS), yet the full phenotypic spectrum remains incompletely characterized, especially in asymptomatic individuals. We conducted a cross‐sectional study including 10 individuals with NS (four with peripheral lymphedema and six without) and 10 age‐ and sex‐matched ...
Inger Norlyk Sheyanth, Benjamin Kelly, Sheyanth Mohanakumar, Steffen Ringgaard, Yoav Dori, Irene Kibæk Nielsen, Uffe Birk Jensen, Vibeke Elisabeth Hjortdal   +7 more
wiley   +1 more source

Spontaneous resolution of atrial and ventricular septal defects in Malta [PDF]

, 1998
Congenital heart disease (CHD) is the commonest congenital malformation, and ventricular septal defect (VSD) and atrial septal defect (ASD) are the commonest forms of CHD.
Bailey, Mark, Mercieca, Victor, Grech, Victor E.   +2 more
core  

Atrial Septal Defects – Clinical Manifestations, Echo Assessment, and Intervention

Clinical Medicine Insights: Cardiology, 2014
Atrial septal defect (ASD) is a common congenital abnormality that occurs in the form of ostium secundum, ostium primum, sinus venosus, and rarely, coronary sinus defects.
S. Martin, E. Shapiro, Monica Mukherjee
semanticscholar   +1 more source

Electrocardiographic and Skin Manifestations of Turner Syndrome: Association With Cardiovascular Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital heart disease (CHD) and dermatologic conditions such as lymphedema and acquired melanocytic nevi (AMN) are common in Turner Syndrome (TS). We hypothesized that abnormalities of cranial neural crest cell derivatives drive the skin and heart manifestations of TS. We conducted joint cardiac and skin examinations of volunteers at a 2023
Sarah Elsaim, Brett Vernier, Van Thi Thanh Truong, Riya T. Patel, Matthew Brown, Martin Chacon Portillo, Megan Rogge, David Rodriguez‐Buritica, Siddharth K. Prakash   +8 more
wiley   +1 more source

Transcatheter closure of Ventricular Septal defects in Malta : initial experience [PDF]

, 2005
Ventricular septal defects (VSD) consist of deficiencies of the wall separating the two ventricles. VSDs are the commonest congenital cardiac defects. Small VSDs rarely require intervention, however, larger defects cause ventricular volume overload with ...
Aquilina, Oscar, DeGiovanni, Joseph V., Manche, Alexander, Magic, Jadran, Grech, Victor E., Formosa Gouder, Mireille, Fenech, Albert   +6 more
core  

8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families

, 2010
Background: the 8p23.1 duplication syndrome and copy number variation of the 8p23.1 defensin gene cluster are cytogenetically indistinguishable but distinct at the molecular level.
Emma-Jane Taylor, Liehr, Thomas, Susanne Morlot, Joana Trindade, Ocraft, Kevin, Ana I Paramos, Viv K Maloney, Paramos Ana I, Bunyan Dave, Curtis, Merryl, Claudia Alves, Merryl Curtis, Maloney, Viv K., Dermitzel Anette, Bunyan, Dave, Denise Robinson, Dermitzel, Anette, Thomas Liehr, Alves Claudia, John CK Barber, Kevin Ocraft, Taylor, Emma-Jane, Clare Cooper, Alves, Claudia, Taylor Emma-Jane, Anette Dermitzel, Curtis Merryl, Ocraft Kevin, Barber John CK, Cooper Clare, Paramos, Ana I., Cooper, Clare, Liehr Thomas, Barber, John C.K., Robinson, Denise, Trindade Joana, Morlot, Susanne, Morlot Susanne, Robinson Denise, Maloney Viv K, Dave Bunyan, Trindade, Joana   +41 more
core   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Identification and morphogenesis of vestibular atrial septal defects

, 2020
Background: The vestibular atrial septal defect is an interatrial communication located in the antero-inferior portion of the atrial septum. Reflecting either inadequate muscularization of the vestibular spine and mesenchymal cap during development, or ...
Tretter, Justin T, Mohun, Timothy J, Spicer, Diane E, Timothy J. Mohun, Scott Kramer, Anderson, Robert H, Kramer, Scott, Loomba, Rohit S, Rohit S. Loomba, Robert H. Anderson, Diane E. Spicer, Justin T. Tretter   +11 more
core   +2 more sources