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Results 201 to 210 of about 185,542 (303)

Neighborhood clustering analysis to define epithelial-stromal interface for tumor infiltrating lymphocyte evaluation. [PDF]

J Pathol Inform
Yeung T, Zhang Y, Zhou Q, Burack R.
europepmc +1 more source

Speech and Language Disorders Associated With 7q31 Deletions Implicating FOXP2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Some 7q31 deletions encompass FOXP2, a gene long associated with speech and language disorders. Intragenic pathogenic FOXP2 variants cause FOXP2‐related speech and language disorder, which has been well characterized in the literature. Conversely, the phenotype associated with 7q31 deletions is neglected.
Lottie D. Morison +3 more
wiley +1 more source

Clinical and genetic features of 6q deletion syndrome: A literature review and case report. [PDF]

Int J Surg Case Rep
Alomar M, Shaker K, Alomar K.
europepmc +1 more source

Case Series of Nizon‐Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid–Triploid Mosaicism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nizon‐Isidor syndrome is a rare disorder caused by heterozygous variants in MED12L, with only eight documented cases in the literature. Here, we present three additional cases of this syndrome. Proband 1 was a 7‐year‐old female who presented with developmental delay, right‐leg hemihypertrophy, laryngeal cleft, esotropia, abnormal skin ...
Russell Stewart +336 more
wiley +1 more source

Appraisal of Gene Expression‐Based Classifiers for Neuropsychiatric Disorders: A Meta‐Regression

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A substantial body of research examines the potential of gene‐expression‐based biomarkers for diagnosing and selecting treatments for neuropsychiatric disorders, yet no clear consensus has been reached regarding the influence of controllable factors such as study design and model selection on the performance of gene‐expression‐based ...
Ali Razavi +6 more
wiley +1 more source

An efficient leukemia prediction method using machine learning and deep learning with selected features. [PDF]

PLoS One
Ilyas M +4 more
europepmc +1 more source

Establishment and molecular profiling of a PDX model of a metachronous brain tumor in a patient with constitutional mismatch repair deficiency with biallelic MSH6 variant

Animal Models and Experimental Medicine, EarlyView.
A 6½‐year‐old girl was diagnosed with a medulloblastoma, SHH activated, subtype 3 and TP53 mutant (somatic). After surgery and chemotherapy, she was monitored with quarterly magnetic resonance imaging (MRI) scans and remained free of disease for almost 4 years.
Daniel Antunes Moreno +19 more
wiley +1 more source

Transformative insights from transcriptome analysis of colorectal cancer patient tissues: identification of four key prognostic genes. [PDF]

PeerJ
Belder N +8 more
europepmc +1 more source

Clinical and Molecular Genetic Characterization of Landau Kleffner Syndrome: An Observational Cohort and Experimental Study

Annals of Neurology, EarlyView.
Objective Landau–Kleffner syndrome (LKS), is a rare, poorly‐understood epileptic encephalopathy with spike–wave activation in sleep associated with mutations in GRIN2A, encoding the N‐Methyl‐D‐Aspartate receptor (NMDAR) GluN2A subunit. Physicians rely on empirical treatments, with scarce information on treatment efficacy and outcomes.
Adeline Ngoh +15 more
wiley +1 more source

Ultrasensitive Bead-Based Immunoassay for Real-Time Continuous Sample Flow Analysis. [PDF]

Biosensors (Basel)
Shlyapnikov YM, Shlyapnikova EA.
europepmc +1 more source

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