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| http://dx.doi.org/10.1002/ajmg.a.32406 | DOI Listing |
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Utility of whole exome sequencing in the evaluation of isolated fetal growth restriction in normal chromosomal microarray analysis.
Ann Med
December 2025
Genetic Medical Center, Guangdong Women and Children Hospital. Xingnan Load, Guangzhou, China.
Objective: To investigate the application of whole exome sequencing (WES) in the prenatal diagnosis of isolated fetal growth restriction (FGR) with a normal result by chromosomal microarray analysis (CMA).
Methods: This retrospective study included singleton fetuses with isolated FGR in Guangdong Women and Children Hospital between July 2018 and August 2023. All fetuses were subjected to invasive prenatal testing with CMA and WES.
Ciliopathy due to genetic alterations of TULP3 as an uncommon cause of hepatorenocardiac fibrosis.
Rev Esp Enferm Dig
March 2025
Aparato Digestivo, Hospital Universitario Torrecárdenas.
Hepatorenocardiac fibrosis is a group of rare, clinically and genetically heterogeneous inherited disorders affecting the development and degenerative function of the liver and kidneys. It is associated with ciliopathies, a group of diseases characterized by dysfunction of the primary cilium, a key organelle in cell signaling. We present a clinical case of ciliopathy linked to a genetic alteration in the protein TULP3 (TUB Like Protein 3) as a cause of hepatorenocardiac fibrosis.
View Article and Find Full Text PDFNTRK protein expression in NSCLC and its clinicopathological correlation.
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February 2025
Department of Clinical Pathology and Cancer Diagnostics, Karolinska University Hospital, Stockholm, Sweden.
Non-small cell lung cancer (NSCLC) is a complex disease with diverse clinical and molecular characteristics. Since the discovery of the oncogenic neurotrophic receptor tyrosine kinase (NTRK) gene fusion in colorectal cancer in 1986, its understanding has gradually progressed. NTRK's relevance is crucial to understanding some tumor development and how specific tyrosine receptor kinase inhibitors (TRKI) work.
View Article and Find Full Text PDFBackground: This study investigated the expression and clinical significance of coiled-coil domain containing 12 (CCDC12) in the initial diagnosis of acute myeloid leukemia (AML).
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Background: Early diagnosis and intervention are essential for improving the prognosis and survival of gastric cancer (GC) patients. However, specific biomarkers for early GC diagnosis are still unavailable.
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