Results 101 to 110 of about 29,641 (255)
Molecular Genetics & Genomic MedicineBackground Recurrent Implantation Failure (RIF) is defined as the inability to establish pregnancy despite high‐quality embryo transfer after the application of at least three consecutive in vitro fertilization (IVF)/intracytoplasmic sperm injection ...
Atefeh Asgari +4 more
doaj +1 more source
Movement Disorders, EarlyView.Abstract Background NKX2‐1–related disorders (NKX2‐1‐RDs) classically present with a triad of neurological, endocrine, and pulmonary manifestations, including benign hereditary chorea. However, in a fraction of patients, NKX2‐1 coding variants are not detected, and variants outside the NKX2‐1 locus have been reported.
Robin Wijngaard +33 more
wiley +1 more source
Taxonomy and phylogeny of the intercontinental disjunctive ferns: series Reniformia Adiantum
Nordic Journal of Botany, EarlyView.There are disputed opinions about the three taxa of series Reniformia, namely A. nelumboides X.C.Zhang (A. reniforme var. sinense Y.X.Lin), A. reniforme var. reniforme, and A. reniforme var. asarifolium (Willd.) R. Sim, owing to their similar morphology but intercontinental disjunctive distribution and close lineage with the series Venusta (only ...
Ai‐Hua Wang +9 more
wiley +1 more source
The Journal of Pathology, EarlyView.Abstract Reliable detection of structural variants (SVs) and copy number variations (CNVs) is crucial in the contemporary diagnostics of pediatric B‐cell acute lymphoblastic leukemia (B‐ALL). However, limitations of commonly used conventional and molecular cytogenetic methods may hinder the accurate genetic characterization of patients.
Anna Bekő +21 more
wiley +1 more source
Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis
Prenatal Diagnosis, EarlyView.ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell +6 more
wiley +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust +15 more
wiley +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Objectives Partial gene duplications (PGDups) are a significant contributor to genetic disease. The precise genomic location and structure of PGDups are often unresolved using conventional methods, so prenatal diagnosis for PGDups is challenging, especially without ultrasound abnormalities.
Shengfang Qin +10 more
wiley +1 more source
BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.ABSTRACT Objectives To quantify the discrepancy between anatomical and motor levels in foetuses with open spinal dysraphism and identify prenatal factors associated with this difference. We also examined associations between anatomical level and ultrasound findings. Design Retrospective observational study.
Silvia Arévalo +8 more
wiley +1 more source