Results 91 to 100 of about 593,970 (296)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT To investigate the correlation between genetic abnormalities and fetal genitourinary (GU) anomalies in Eastern China and to provide assistance for the clinical management of fetuses with different types of GU anomalies. Five hundred forty‐five fetuses with GU anomalies were enrolled, undergoing karyotyping, copy number variation sequencing ...
Jie Liang +6 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken +4 more
wiley +1 more source
Reassessing the Duration of the Second Stage of Labor in Relation to Maternal and Neonatal Morbidity. [PDF]
, 2018 OBJECTIVE: To assess the morbidity associated with continuing the second-stage duration of labor, weighing the probability of spontaneous vaginal birth without morbidity compared with birth with serious maternal or neonatal complications.
Allen +14 more
core +2 more sources
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young +6 more
wiley +1 more source
A Life-Course Perspective Analysis on the Factors Affecting Neonatal Death in Bantul District, Yogyakarta [PDF]
, 2018 Background: Neonatal death is an important health outcome during the first year of life. According to WHO, 46% of deaths among children under five were newborns in 2016.
Listiani, F. R. (Funik) +2 more
core
Metabolic effects of a high-fat diet post-weaning after low maternal dietary folate during pregnancy and lactation [PDF]
, 2014 Scope Investigate the influence of low-folate supply during pregnancy and lactation on obesity and markers of the metabolic syndrome in offspring, and how provision of a high-fat diet post weaning may exacerbate the resultant phenotype.
Ford, Dianne +6 more
core +1 more source
A Population‐Based Assessment of Cancer Risk in Children With VACTERL
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cancer risk in children with VACTERL, a nonrandom co‐occurrence of ≥ 3 defects (vertebral, anal, cardiac, tracheoesophogeal fistula, renal, and limb), remains unclear. We evaluated this association in a population‐based study. We analyzed data from the Genetic Overlap Between Anomalies and Cancer in Kids (GOBACK) Study, a US registry linkage ...
Ji Yun Tark +15 more
wiley +1 more source
Maternal mortality review in a major tertiary referral hospital in Liberia, 2018–2021
HeliyonObjectives: Anecdotal evidence showed increased maternal deaths at the major tertiary hospital over the past two years (2020–2021). We reviewed the maternal death audit data, identified the main causes of maternal death, and associated risk factors ...
Tete K. Thomas +6 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Pathogenic variants in the SCN5A gene and its subunits have been identified in individuals with Brugada Syndrome. One such SCN5A variant, c.689T>C(p.Ile230Thr), was previously reported as disease‐causing only in homozygous individuals, with heterozygous carriers being unaffected.
Shayla Shojaat +2 more
wiley +1 more source