Results 151 to 160 of about 89,619 (298)
Zanubrutinib for high-risk Waldenström macroglobulinemia with complex karyotype and hyperleukocytosis: A case report and literature review. [PDF]
Chen J +5 more
europepmc +1 more source
Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis
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
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa +7 more
wiley +1 more source
Satellite DNA in <i>Populus</i> and Molecular Karyotyping of <i>Populus xiaohei</i> and Its Derived Double Haploids. [PDF]
Liu B +5 more
europepmc +1 more source
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear +7 more
wiley +1 more source
Challenges in accuracy in molecular genetic diagnosis of childhood AML: case series. [PDF]
de Oliveira Mota F +12 more
europepmc +1 more source

