Results 71 to 80 of about 175,789 (362)

Large-scale discovery of enhancers from human heart tissue. [PDF]

, 2011
Development and function of the human heart depend on the dynamic control of tissue-specific gene expression by distant-acting transcriptional enhancers.
Afzal, Veena, Akiyama, Jennifer A, Black, Brian L, Blow, Matthew J, Bristow, James, Holt, Amy, Jensen, Brian C, Kaplan, Tommy, May, Dalit, McCulley, David J, Pennacchio, Len A, Plajzer-Frick, Ingrid, Rubin, Edward M, Shoukry, Malak, Simpson, Paul C, Visel, Axel, Wright, Crystal   +16 more
core  

Total anomalous pulmonary vein drainage in a 60-year-old woman diagnosed in an ECG-gated multidetector computed tomography : a case report and review of literature [PDF]

, 2018
Purpose: Total anomalous pulmonary vein drainage (TAPVD) is a congenital cardiac defect in which there is no connection between pulmonary veins and the left atrium.
Adamczyk, Piotr, Czekajska-Chehab, Elżbieta, Drop, Andrzej, Siek, Elżbieta, Staśkiewicz, Grzegorz, Tomaszewski, Andrzej, Wojtkowska, Agnieszka, Zakościelna, Magdalena   +7 more
core   +1 more source

The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glycogen storage disorders are a group of genetic disorders affecting glucose homeostasis in the body. Muscular glycogen stores are essential for liberating glucose for energy supply during bursts of activity and sustained muscle work. Muscle glycogen storage disease 0 (GSD0B) is associated with biallelic variants in GYS1 causing muscular ...
Sarah Donoghue, Smitha Kumble, Pontus Wasling, Lars Alberg, Pia Linton‐Dahlöf, Yilmaz Yildiz, İlker Ertuğrul, Terry Derks, Dwight Koeberl, Emmeline Lagrange, Sabrina Vergnaud, Lidia Pezzani, Maria Iascone, Zornitza Stark, Adam M. Bournazos, Sandra T. Cooper, Gittan Kollberg   +16 more
wiley   +1 more source

Thromboembolic characteristics and role of anticoagulation in long-standing Fontan circulation

International Journal of Cardiology Congenital Heart Disease, 2022
Introduction: The risk of thromboembolism increases with duration of Fontan circulation. Preventive drug strategies are still discussed controversially. We aimed to characterize clinical relevant thromboembolism in long-standing Fontan circulation and to
Mechthild Westhoff-Bleck, Carolin Klages, Carolin Zwadlo, Kristina Sonnenschein, Jan-Thorben Sieweke, Johann Bauersachs, Harald Bertram, Urte Grosser   +7 more
doaj  

AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear, Paul Kalitsis, Melissa Glass, Bertrand Isidor, Catherine Vincent‐Delorme, Florence Petit, Judith M. A. Verhagen, Alexander Jorge, Ana Cristina Victorino Krepischi, Ikeoluwa Osei‐Owusu, Eva Martinez, Anne O'Donnell‐Luria, Nicole de Leeuw, Sarah Ruggiero, Ingo Helbig, Francis David I, Natasha J. Brown   +16 more
wiley   +1 more source

The views of parents concerning the planning of services for rehabilitation of families of children with congenital cardiac disease [PDF]

, 2003
Background and purpose: Although much previous research has focused on the medical aspects of congenital cardiac disease, there is a growing body of research which suggests that families may need help and support with the wider issues associated with the
Kendall, L, Lewin, R. J. P, Parsons, J. M, Sloper, P   +3 more
core   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

Life Experiences and Coping Strategies in Adults with Congenital Heart Disease

La Pediatria Medica e Chirurgica, 2013
Many adults with congenital heart disease (ACHD) have to face considerable psychosocial difficulties. The aim of this study was to explore the life experiences of ACHD patients, from when they become aware of having a condition, till after the open heart
E. Callus, E. Quadri, A. Compare, A. Tovo, A. Giamberti, M. Chessa   +5 more
doaj   +1 more source

Systolic ejection murmurs and the left ventricular outflow tract in boxer dogs [PDF]

, 2007
Turbulence of various genesis in the left ventricular outflow tract (LVOT) causes systolic ejection murmurs. The prevalence of murmurs in adult boxer dogs is 50-80%, the majority of which are of low intensity.
Höglund, Katja
core  

Medication adherence in patients with myotonic dystrophy and facioscapulohumeral muscular dystrophy [PDF]

, 2016
Myotonic dystrophy (DM) and facioscapulohumeral muscular dystrophy (FSHD) are the two most common adult muscular dystrophies and have progressive and often disabling manifestations.
Conn, Kelly, Fitzgerald, Bryan, Hilbert, James E., Luebbe, Elizabeth A., Moxley, Richard T., III, Parkhill, Amy L., Smith, Joanne, Walker, Andrew   +7 more
core   +2 more sources