Results 141 to 150 of about 37,774 (292)
Prenatal Diagnosis, EarlyView.ABSTRACT Objective To evaluate the incremental diagnostic yield of sequencing in a large, well‐phenotyped international cohort of fetuses with prenatally diagnosed agenesis of the corpus callosum (ACC) and to identify associated genes and variants. Methods Retrospective multicenter cohort study of fetuses with a prenatal diagnosis of ACC undergoing ...
Lorraine Dugoff +18 more
wiley +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Objective To characterize the overall diagnostic yield of sequential chromosomal microarray (CMA) and exome sequencing (ES) across the phenotypic spectrum of fetal growth restriction (FGR). Methods A retrospective cohort of 320 consecutive FGR pregnancies presenting at ≥ 20 weeks to a tertiary fetal medicine unit (2020–2025).
Hadas Miremberg +11 more
wiley +1 more source
Evaluation of an automated karyotyping system for chromosome aberration analysis [PDF]
, 1987 Chromosome aberration analysis is a promising complement to conventional radiation dosimetry, particularly in the complex radiation fields encountered in the space environment.
Prichard, Howard M.
core
Prenatal Diagnosis, EarlyView.ABSTRACT Objective To evaluate the diagnostic yield of integrated molecular autopsy (IMA) by combining deep post‐mortem phenotyping with exome (ES) and targeted genome sequencing (GS) for prenatally detected anomalies. Method This retrospective study evaluated 28 perinatal cases (22 fetuses, six neonates) with severe anomalies, normal first‐tier ...
Sihem Darouich +6 more
wiley +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Objective To evaluate the analytical and clinical performance of fetal fraction (FF) enriched genome‐wide noninvasive prenatal testing (GW‐NIPT) for the detection of clinically relevant copy number variants (CNVs) down to 1 Mb. Methods We retrospectively analyzed 10,501 singleton pregnancies tested with FF enrichment‐based GW‐NIPT between ...
Karmen Vaiküll +6 more
wiley +1 more source
Pediatric Investigation, EarlyView.Bortezomib‐based chemotherapy achieved an 88.9% remission rate in Chinese pediatric patients with relapsed/refractory B‐cell acute lymphoblastic leukemia, enabling 62.5% of responders to bridge to transplantation, while T‐cell acute lymphoblastic leukemia showed no response.
Xingyu Zhao +5 more
wiley +1 more source
Human Prostate Cell Lines: Derivation, Molecular Characteristics and Appropriate Use
The Prostate, EarlyView.ABSTRACT Background Research on prostate cancer and benign prostatic hyperplasia depends on a small number of immortalized human cell lines established between 1977 and 2001, most of them from advanced metastatic disease. The cell lines differ from one another in androgen receptor status, prostate‐specific antigen secretion, p53 status, karyotype and ...
Hamza Abohamra, Keenau Mark Pearce
wiley +1 more source
BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.ABSTRACT Background Cervicovaginal agenesis with functional uterine remnants is a rare Müllerian anomaly that may cause obstructed menstrual flow, pelvic pain, haematometra, haematosalpinx and endometriosis. Uterus‐preserving reconstruction is challenging because it requires both neovaginal creation and durable uterine drainage.
Kiper Aslan +3 more
wiley +1 more source