Results 81 to 90 of about 129,688 (299)
Abstract This study compares recommendations from international clinical guidelines regarding prenatal screening and diagnostic testing for fetal genetic abnormalities, including the role of non‐invasive prenatal testing (NIPT), invasive diagnostic procedures, and advanced genomic technologies.
Geovanna Saboia Veras +1 more
wiley +1 more source
Cytogenetic Nomenclature and Reporting
A standardized nomenclature is critical for the accurate and consistent description of genomic changes as identified by karyotyping, fluorescence in situ hybridization and microarray.
Hastings, R.J. +7 more
core +1 more source
The Human Biomarker Navigator integrates the disease continuum, biomarker dynamics, cross‐organ biomarker networks, biomarker classification, and technology‐driven paradigms. It maps how biomarkers link multi‐system physiology and pathology across the nervous, respiratory, endocrine, circulatory, immune, digestive, urinary, reproductive, and ...
Meng‐Yao Li +29 more
wiley +1 more source
A De Novo Deletion of Chromosome 18p with Persistent Limb Tremor and Difficulty Speaking
Background: The common causes of 18p deletion syndrome are spontaneous errors in the chromosomal structure in the early stages of human embryonic development.
Aghil Esmaeili-Bandboni +6 more
doaj
Epithelial tumour karyotypes are often difficult to study by standard cytogenetic methods because of poor chromosome preparation quality and the high complexity of their genomic rearrangements.
Stewénius, Ylva +6 more
core +1 more source
Metabolic feature profiling and metabolic vulnerability in acute lymphoblastic leukemia
For the first time, our study develops a novel metabolic classification and subtyping program, metabolic reprogramming‐based classifier for acute lymphoblastic leukemia, using internal PDT‐ALL‐2016 and external cohorts, which dissects metabolic profiling, clinical outcome, and therapeutic vulnerability for precision metabolic intervention in ALL ...
Xiaojie Liang +13 more
wiley +1 more source
This graphical abstract illustrates the prognostic significance of systemic inflammatory markers in Multiple Myeloma (MM). The left panel depicts the immunosuppressive tumor microenvironment, where abundant neutrophils and M2 macrophages promote MM cell survival while lymphocytes are depleted.
Lihong Zhang, Bing Ma, Jingyu Zhang
wiley +1 more source
Langerhans Cell Histiocytosis Followed by Hodgkin Lymphoma: A Case Report
Langerhans cell histiocytosis (LCH) is a rare neoplasm defined as the proliferation of bone marrow langerhans cells, which is a kind of dendritic cells.
Akbar Safaei +4 more
doaj
Cytogenetic studies were carried out on five accesses of interspecific hybrids of Pennisetum purpureum and Pennisetum glaucum and their parentals, which are part of the Forage Germplasm Bank of the "Centro Nacional de Pesquisa de Gado de Leite" of ...
Sandro Barbosa +2 more
doaj +1 more source
Distal 1q43q44 deletions lead to a consistent neurodevelopmental phenotype characterized by microcephaly, corpus callosum abnormalities, and developmental delay. Despite differences in genomic architecture, overlapping deletions affecting dosage‐sensitive genes such as AKT3, HNRNPU, and ZBTB18 define the core phenotype.
Ma. Guadalupe Domínguez‐Quezada +6 more
wiley +1 more source

