Results 221 to 230 of about 27,794 (295)
Diagnostic puzzle of Anopheles species using morphological vs. molecular approach: a case study in Tripura, a hyperendemic malaria state, Northeast India. [PDF]
Sihag AK +12 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
The Need for a Concert of Cytogenomic Methods in Chromosomic Research and Diagnostics. [PDF]
Wang Y, Liehr T.
europepmc +1 more source
Carcinoembryonic antigen(CEA) family genes are located on human chromosome 19 at band q13.2.
Johji Inazawa, Tatsuo Abe
openalex +2 more sources
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
Characterization of Constitutional Ring Chromosomes over 37 Years of Experience at a Single-Site Institution. [PDF]
Murry JB, DuPont BR.
europepmc +1 more source
Mining Alzheimer's Interactomes, Macromolecular Complexes and Pathways for Drug Discovery
ABSTRACT Alzheimer's disease (AD) is a progressive neurodegenerative disorder that leads to dementia. Many cases are diagnosed annually and there is no currently available cure. Understanding the underlying disease biology of AD through the study of molecular networks, particularly by mapping clinical variants to tissue‐specific interactomes and ...
Kalpana Panneerselvam +12 more
wiley +1 more source
Asthenozoospermia in a patient with reciprocal translocation t(12;15): A case report. [PDF]
Mladenić T +5 more
europepmc +1 more source
ABSTRACT Epithelial‐mesenchymal transition (EMT) is a fundamental, dynamic cellular process involved in embryonic development, metastasis, organ fibrosis, and tissue regeneration. To define the molecular landscape of secreted midbody remnants (MBRs) to the EMT process, a proteome analysis of MBRs released from Madin–Darby canine kidney (MDCK) cells and
Adnan Shafiq +6 more
wiley +1 more source

