Childhood Multiple Endocrine Neoplasia (MEN) Syndromes: Genetics, Clinical Heterogeneity and Modifying Genes. [PDF]
Lanzaro F+8 more
europepmc +1 more source
Neonatal diabetes in Ukraine: incidence, genetics, clinical phenotype and treatment. [PDF]
Globa E+7 more
europepmc +1 more source
Adverse prognosis gene expression patterns in metastatic castration‐resistant prostate cancer
We aggregated a cohort of 1012 mCRPC tissue samples from 769 patients and investigated the association of gene expression‐based pathways with clinical outcomes. Loss of AR signaling, high proliferation, and a glycolytic phenotype were independently prognostic for poor outcomes, and an adverse transcriptional feature score incorporating these pathways ...
Marina N. Sharifi+26 more
wiley +1 more source
Single center experience developing sustainable genetics clinical care: a model to address workforce challenges in medical genetics. [PDF]
Kinney A+3 more
europepmc +1 more source
A descriptive study of UK cancer genetics services: an emerging clinical response to the new genetics [PDF]
David Wonderling+6 more
openalex +1 more source
Presurgery 72‐h fasting in GB patients leads to adaptations of plasma lipids and polar metabolites. Fasting reduces lysophosphatidylcholines and increases free fatty acids, shifts triglycerides toward long‐chain TGs and increases branched‐chain amino acids, alpha aminobutyric acid, and uric acid.
Iris Divé+7 more
wiley +1 more source
Towards Novel Nonparametric Statistical Methods and Bioinformatics Tools for Clinical and Translational Sciences [PDF]
As the field of functional genetics and genomics is beginning to mature, we become confronted with new challenges. The constant drop in price for sequencing and gene expression profiling as well as the increasing number of genetic and genomic variables ...
Wittkowski, Knut M.
core +1 more source
Peutz-Jeghers Syndrome: A Comprehensive Review of Genetics, Clinical Features, and Management Approaches. [PDF]
Amru RL, Dhok A.
europepmc +1 more source
A comprehensive leukemia database: integration of cytogenetics, molecular genetics and microarray data with clinical information, cytomorphology and immunophenotyping [PDF]
Martin Dugas+7 more
openalex +1 more source
Transcriptome‐wide analysis of circRNA and RBP profiles and their molecular relevance for GBM
CircRNAs are differentially expressed in glioblastoma primary tumors and might serve as therapeutic targets and diagnostic markers. The investigation of circRNA and RNA‐binding proteins (RBPs) interactions shows that distinct RBPs play a role in circRNA biogenesis and function.
Julia Latowska‐Łysiak+14 more
wiley +1 more source