Results 51 to 60 of about 30,159 (292)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes +3 more
wiley +1 more source
Ultra-sonografia pré-natal no diagnóstico de aneurisma da veia de Galeno.
Acta Médica Portuguesa, 2010 Vein of Galen aneurysm is a rare congenital anomaly, originated from a defect in fusion of internal cerebral veins. Due to low resistance, it produces high debit cardiac insufficiency.
Lizarda Félix +6 more
doaj +1 more source
Association of Prenatal Ultrasonography and Autism Spectrum Disorder [PDF]
Obstetrical & Gynecological Survey, 2018 (Abstracted from JAMA Pediatr 2018;172(4):336–344) The prevalence of autism spectrum disorder (ASD) has increased over the past several decades. Despite ongoing identification of genetic causes, there exists mounting evidence that environmental exposures may account for a significant amount of this increase in incidence.
N Paul, Rosman +7 more
openaire +3 more sources
Prediction, prevention and personalisation of medication for the prenatal period: genetic prenatal tests for both rare and common diseases [PDF]
, 2011 Genetic testing usually helps physicians to determine possible genetic diseases in unborn babies, genetic disorders of patients and the carriers who might pass the mutant gene on to their children.
Asli Subasioglu Uzak +3 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston +35 more
wiley +1 more source
Prenatal diagnosis of fetal abdominal lymphangioma by ultrasonography [PDF]
Ultrasound in Obstetrics & Gynecology, 2001 AbstractWe present a case of abdominal lymphangioma in a fetus together with a review of the literature. Diagnosis was made at 20 weeks' gestation by antenatal ultrasonography. In keeping with other reports, the lesion was located on the left and serial ultrasonography demonstrated rapid growth with extension into the lower extremity.
Deshpande P., O'Neill D., Twining P.
openaire +2 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Homozygous achondroplasia is widely considered perinatal lethal by the medical community. In this case series, we report two children from a single family with longer‐term survival. One child lived for 17 months and the other was 60 months at the time of publication.
Hannah Singerline +3 more
wiley +1 more source
Taiwanese Journal of Obstetrics & Gynecology, 2014 Objective: We describe a prenatal ultrasonography diagnosis of omphalocele and symbrachydactyly in a fetus and review the literature on prenatal diagnosis of 9p terminal chromosomal deletions.
Wen-Chien Hou +6 more
doaj +1 more source
Undernutrition and stage of gestation influence fetal adipose tissue gene expression [PDF]
, 2015 Funded by the Scottish Government’s Rural and Environment Science and Analytical Services Division (RESAS), including the Strategic Partnership for Animal Science Excellence (SPASE) and the U.S. National Institutes of Health (HD045784).
Adam, Clare L +7 more
core +1 more source
Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen +13 more
wiley +1 more source