Results 51 to 60 of about 246,811 (245)
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 +9 more
wiley +1 more source
, 2014 Background. The rapid expansion of pediatric cardiovascular surgery, along with the increase in the number of centers and operations, has also increased the use of intraoperative transesophageal echocardiography (TEE).
Guzeltas, Alper +9 more
core +1 more source
Reduced bone strength in adults with moderate or complex congenital heart disease
, 2021 Background: We aimed to study bone mineral density (BMD) and skeletal strength in the growing population of adults with moderate or complex congenital heart disease (CHD).
Sandberg, Camilla +5 more
core +1 more source
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 +7 more
wiley +1 more source
Heart Murmur in Neonates: How Often Is It Caused by Congenital Heart Disease [PDF]
Objective: Congenital heart disease (CHD) is the most common form of cardiovascular diseases in children. This study was performed from September 2006 to August 2007 in Ardebil, Westnorthern Iran.
انتشاری مقدم, افسانه +5 more
core
Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet +10 more
wiley +1 more source
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 +10 more
wiley +1 more source
Chances of Employment in a Population of Women and Men after Surgery of Congenital Heart Disease: Gender-Specific Comparisons between Patients and the General Population [PDF]
It was examined whether women and men (17-45 years) with operated congenital heart disease (CHD) differ with respect to chances of employment. Patients were compared with the general population.
Kambiz Norozi +3 more
core
, 2023 Background: Living well is as important as living longer. The objective of this study is to assess quality of life (QoL) in congenital heart disease (CHD) according to current AHA/ACC anatomical and physiological classification.
Barreto Martín, Alejandro +11 more
core +1 more source