Results 151 to 160 of about 79,064 (227)

TP53 mutations orchestrate partial EMT states in oral squamous cell carcinoma: spatially resolved and in vitro preliminary insights into tumour plasticity

The Journal of Pathology, EarlyView.
Abstract TP53 is the most frequently mutated gene in oral squamous cell carcinoma (OSCC); however, its role in promoting epithelial–mesenchymal transition (EMT) and tumour progression remains unclear, particularly within the context of intra‐tumour heterogeneity.
Rana Alaaeldin Ibrahim, Hong Wan, Raju Kumar, Muy‐Teck Teh, Angray Kang, Emma Bailey, Hannah Cottom, Adrian Biddle, Inês Sequeira, Farida Fortune   +9 more
wiley   +1 more source

FLCN Multi-Exon Deletion in a Chihuahua With Renal Cysts and Nodular Dermatofibrosis. [PDF]

Anim Genet
Schneiter M, Selz J, Jonker J, Dettwiler M, Jagannathan V, Leeb T, Maina E.   +6 more
europepmc   +1 more source

Genetic Investigation in Fetal Growth Restriction: An Integrated Approach for Clinical Practice

Prenatal Diagnosis, EarlyView.
ABSTRACT International guidelines recommend genetic testing when fetal growth restriction (FGR) accompanies structural anomalies, but recommendations for apparently isolated FGR remain variable, particularly regarding gestational age thresholds and the role of exome sequencing (ES). Interpretation is difficult because studies define FGR inconsistently,
Eran Ashwal, David Chitayat
wiley   +1 more source

GATES: A Lightweight Tool Automating Pathogenic Variant Discovery From Raw Whole-Exome Sequencing Data. [PDF]

Cancer Inform
Bambach NE, Ricarte-Filho JC, Reichenberger ER, Franco AT.   +3 more
europepmc   +1 more source

Fetal Intracranial Hemorrhage: What to Tell Expecting Parents?

Prenatal Diagnosis, EarlyView.
ABSTRACT Fetal intracranial hemorrhage (ICH) is a rare but serious prenatal diagnosis, and counseling affected families remains challenging. In this narrative review, we summarize current evidence on the classification, epidemiology, etiology, diagnosis and neurodevelopmental outcomes of fetal ICH, with a primary focus on intraventricular hemorrhage ...
Shiri Shinar, Yada Kunpalin, Elka Miller
wiley   +1 more source

Integrated Molecular Autopsy in a Highly Consanguineous Perinatal Cohort With Severe Malformations and Strong Genetic Susceptibility

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, Samia Darouich, Ahmed Khemiri, Dorsaf Gtari, Raoudha Smiti, Ahmed Nhili, Houda Bellamine   +6 more
wiley   +1 more source

Current translational perspectives for diagnosis and individualized therapy in rare genetic diseases. [PDF]

Commun Med (Lond)
Niazi SK.
europepmc   +1 more source

PINK1‐Associated Juvenile‐Onset Parkinsonism: Marked Phenotypic Variability and Limited Genotype–Phenotype Correlation

Movement Disorders, EarlyView.
Reza Maroofian, Ross Leng, Shilpan G. Patel, Hina Ojha, Heba Hosny, Maha Zaki, Miratul M.K. Muqit, Henry Houlden   +7 more
wiley   +1 more source

Multimodal artificial intelligence in medical biotechnology: Integrating genomics, imaging, and clinical data for precision therapeutics

Precision Medical Sciences, EarlyView.
Overview of multimodal artificial intelligence (AI) for precision therapeutics. Diverse biomedical data modalities, including multi‐omics, medical imaging, digital pathology, electronic health records, wearable‐device data, and molecular information, are integrated through multimodal AI frameworks incorporating fusion strategies, foundation models ...
Gedion Mengistu Dejen
wiley   +1 more source

Diagnostic utility of whole exome sequencing in children with suspected genodermatoses: a single-center retrospective study. [PDF]

Front Med (Lausanne)
Kudakaeva AA, Parshina OP, Botkina AS, Gumennaia ER, Belova VA, Vasiliadis IA, Ponikarovskaya NG, Samitova AF, Shmitko AO, Korostin DO.   +9 more
europepmc   +1 more source