Results 111 to 120 of about 134,709 (312)

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source

CLINICAL CASE OF MULTIPLE HEART TUMORS IN NEWBORN

Мать и дитя в Кузбассе, 2019
Heart tumors are a rare pathology, especially in children. They have a varied characteristic. This disease can affect any part of the organ, the pericardium, the myocardium, the valves, the internal tissue of the heart, as well as the septum between the ...
Елена Викторовна Гольцман, Ольга Викторовна Полонская, Ольга Владиславовна Кучма, Дмитрий Александрович Маисеенко, Марина Юрьевна Галактионова   +4 more
doaj  

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

Radiofrequency resistant pulmonary atresia with intact septum: the use of Conquest Pro 12 coronary guidewire

Türk Kardiyoloji Derneği Arşivi, 2014
Pulmonary valve atresia with intact ventricular septum, which is a rare congenital heart defect, can be treated either surgically or via transcatheter.
İbrahim Cansaran Tanıdır, Erkut Ozturk, Alper Guzeltas, Ender Odemis   +3 more
doaj   +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

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

Congenital Aneurysmal Tunnel of the Trabecular Muscular Interventricular Septum or a Partially Closed Ventricular Septal Defect? A Case Report with Review of Literature

Journal of the Indian Academy of Echocardiography & Cardiovascular Imaging
Isolated congenital aneurysm-like deformity of the muscular interventricular septum is rare and may be associated with other congenital heart defects, ventricular dysfunction, conduction disturbances, and chromosomal abnormalities. It may be a partial or
Madhu Shukla, Jagdish Chander Mohan
doaj   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Influence of autonomic nervous system in the inducibility of atrial fibrillation. [PDF]

, 2008
Cílem této práce je zjištění změn předcházejícím fibrilaci síní. Pozorována je rovnováha mezi sympatikem a parasympatikem. Do experimentu výzkumného ústavu Cleavlendské kliniky bylo zapojeno šest psů různých ras.
Šrutová, Martina
core  

Giant hydatid cyst of interventricular septum of heart [PDF]

Indian Journal of Thoracic and Cardiovascular Surgery, 2019
Asher George Joseph, Raja Lahiri, Ajil Joseph, Gautam Sengupta   +3 more
openaire   +2 more sources