Results 81 to 90 of about 40,057 (294)

Fetal echocardiography in trisomy 18 [PDF]

open access: yesArchives of Disease in Childhood - Fetal and Neonatal Edition, 2005
Previously reported pathological series suggest that cardiac malformations are universal in trisomy 18. We examined our experience of fetal echocardiography in trisomy 18 for comparison.Of 255 fetuses with trisomy 18 detected in our centre between January 1999 and June 2004, 174 were evaluated using fetal echocardiography.
Lindsey D. Allan   +2 more
openaire   +2 more sources

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy   +15 more
wiley   +1 more source

Ethnical variations in the incidence of congenital heart defects in Gorgan, Northern Iran: A single-center study [PDF]

open access: yes, 2014
Background: Congenital heart disease (CHD) is the most common congenital anomaly in newborns. This study was performed to determine the live birth incidence of CHD by ethnicity and sex in Gorgan, Northern Iran.
Golalipour, M.J.   +4 more
core  

Routine prenatal screening for congenital heart disease: what can be expected? A decision-analytic approach [PDF]

open access: yes, 1997
OBJECTIVES: This study assessed the potential impact of fetal ultrasound screening on the number of newborns affected by cardiac anomalies. METHODS: A decision model was developed that included the prevalence and history ...
Buskens, E. (Erik)   +4 more
core   +1 more source

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone   +13 more
wiley   +1 more source

The caveats in the diagnosis of anomalous origin of left coronary artery from pulmonary artery (ALCAPA) [PDF]

open access: yes, 2010
Anomalous origin of left coronary artery from pulmonary artery (ALCAPA) is an infrequent, well described, but important anomaly of the coronary origin. Early diagnosis and prompt surgical treatment of the disease can be life saving. However, there are
Kothari, Shyam S., Varghese, M.J.
core   +1 more source

Intestinal Atresia in PPP1R12A‐Related Urogenital and Brain Malformation Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT PPP1R12A‐related urogenital and brain malformation syndrome (UBMS) is a newly described disorder characterized by congenital anomalies primarily involving the urogenital system and the brain. We describe a preterm female neonate with multiple congenital anomalies, including type IIIb jejunal atresia, incomplete intestinal rotation, imperforate
Adriana Gomes   +4 more
wiley   +1 more source

Fetal Echocardiography Characteristics in a Tertiary Center

open access: yesErciyes Medical Journal, 2020
Objective: Fetal echocardiography is an important and growing diagnostic tool for early detection of congenital heart diseases and rhythm problems. In this study, we evaluated retrospectively indications and prenatal and postnatal diagnoses for fetal ...
Elif Erolu, Özlem Sarısoy
doaj   +1 more source

Deletion of heat shock protein 60 in adult mouse cardiomyocytes perturbs mitochondrial protein homeostasis and causes heart failure. [PDF]

open access: yes, 2020
To maintain healthy mitochondrial enzyme content and function, mitochondria possess a complex protein quality control system, which is composed of different endogenous sets of chaperones and proteases.
Chen, Ju   +13 more
core  

Management of Cardiovascular Health Issues in Turner Syndrome: Expert Insights and Expanded Recommendations From the 2024 Guideline Development Team

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner syndrome (TS) is frequently complicated by congenital heart disease (CHD). While left‐sided lesions such as bicuspid aortic valve (BAV) and coarctation of the aorta are the most common structural heart lesions in TS, other anomalies, such as aortic arch malformations, hypoplastic left heart syndrome (HLHS), persistent left superior vena
Katya de Groote   +9 more
wiley   +1 more source

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