Results 181 to 190 of about 1,081,271 (339)
Genome Sequencing Uncovers Additional Findings in Phelan‐McDermid Syndrome
ABSTRACT Phelan‐McDermid syndrome (PMS) is a genetic condition caused by deletions of chromosome 22q13.3 or pathogenic variants in the SHANK3 gene. Neurologic features typically include intellectual disability, autism spectrum disorder, hypotonia, and absent speech, though there is considerable variability even among individuals with the same molecular
Rachel Gore Moses+21 more
wiley +1 more source
Birth Order, Maternal Age, Season of Birth, and Handedness
Nathlie A. Badian
openalex +1 more source
Influence of maternal age at delivery and birth order on risk of type 1 diabetes in childhood: prospective population based family study [PDF]
P. J Bingley
openalex +1 more source
ABSTRACT Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management.
Ivonne Bedei+10 more
wiley +1 more source
Maternal smoking and birthweight: effect modification of period, maternal age and paternal smoking [PDF]
Kjell Haug+5 more
openalex +1 more source
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
Parental Decision‐Making Following a Prenatal Diagnosis of Turner Syndrome: A Systematic Review
ABSTRACT This systematic review investigates factors influencing parental decision‐making following a prenatal diagnosis (PND) of Turner syndrome (TS), aiming to enhance the foundation for tailored and supportive genetic counseling. A comprehensive literature search was conducted in the medical databases PubMed, Embase, and CINAHL.
Inger Lily Hjuler Dorf+2 more
wiley +1 more source
Prediction of blastocyst development using cleavage-stage embryo metrics and maternal age. [PDF]
Ji H+7 more
europepmc +1 more source
High Frequency of Meiosis II Aneuploidies in IVF Patients of Advanced Maternal Age [PDF]
Yury Verlinsky+5 more
openalex +1 more source