Results 51 to 60 of about 78,121 (298)

Clinical significance of cardiac murmurs: get the sound and rhythm! [PDF]

, 2014
C
van Loon, Gunther
core   +1 more source

Glucocorticoids for treating paediatric pulmonary hypertension: A novel use for a common medication [PDF]

, 2017
Laboratory investigations have shown the role of inflammation in the pathogenesis of pulmonary hypertension and improvement after anti-inflammatory drugs.
Aggarwal, Manish, Grady, Ronald M
core   +2 more sources

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

The incidence and follow-up of isolated ventricular septal defect in newborns by echocardiographic screening

The Turkish Journal of Pediatrics, 2008
The aim of this study was to evaluate the incidence and spontaneous closure rate of ventricular septal defects in a randomly selected newborn population, using color flow Doppler echocardiographic screening.
Filiz Ekici, Ercan Tutar, Semra Atalay, Saadet Arsan, Nazire Ozçelik   +4 more
doaj  

MEF2C regulates outflow tract alignment and transcriptional control of Tdgf1 [PDF]

, 2016
Congenital heart defects are the most common birth defects in humans, and those that affect the proper alignment of the outflow tracts and septation of the ventricles are a highly significant cause of morbidity and mortality in infants.
Barnes, Ralston M., Black, Brian L., Harris, Ian S., Jaehnig, E., McCulley, David J., Norris, Russell A., Rojas González, Anabel, Sauls, Kimberly, Schachterle, William, Sinha, Tanvi   +9 more
core   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

3D printed ventricular septal defect patch: a primer for the 2015 Radiological Society of North America (RSNA) hands-on course in 3D printing. [PDF]

, 2015
Hand-held three dimensional models of the human anatomy and pathology, tailored-made protheses, and custom-designed implants can be derived from imaging modalities, most commonly Computed Tomography (CT).
Akyuz, Ekin, Chepelev, Leonid, Dang, Wilfred, Dydynski, Philip B, Giannopoulos, Andreas A, Hong, Chris, Mitsouras, Dimitrios, Pietila, Todd, Rybicki, Frank J, Sheikh, Adnan, Wake, Nicole, Wang, Aili   +11 more
core  

Transthoracic three-dimensional echocardiography for the assessment of straddling tricuspid or mitral valves [PDF]

, 2008
Background The advent of 3D echocardiography has provided a technique which, potentially, could afford significant additional information over conventional cross-sectional echocardiography in the assessment of patients with straddling atrioventricular ...
Anderson, RH, Ho, SY, Lincoln, C, Vogel, M   +3 more
core   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Septal defect with polyvalvular involvement: A cardiac imaging hallmark of Trisomy 18

Annals of Pediatric Cardiology, 2021
Congenital Heart Diseases occur in close to 90% of children with Trisomy 18. A ventricular septal defect along with abnormalities of more than one cardiac valve is considered to be an imaging hallmark of Trisomy 18. We present echocardiographic images of
Usha Nandhini Sennaiyan, SKiruthika, Mani Ram Krishna   +2 more
doaj   +1 more source