Results 191 to 200 of about 70,338 (285)

Phenotypic Spectrum and Chromosomal Discordance in Alobar Holoprosencephaly: A Comparative Case Series from a Tertiary Referral Center. [PDF]

Int Med Case Rep J
Caropeboka MFA, Nisa AS, Pramatirta AY, Pribadi A, Mose JC.   +4 more
europepmc   +1 more source

Behavioral Phenotype and Neuropsychological Profile of an Adult With Smith‐Magenis Syndrome due to a Previously Unreported RAI1 Mutation: A Case Report

Clinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT Smith‐Magenis Syndrome (SMS) is an uncommon genetic disorder caused by microdeletions of chromosome 17p11.2 including the RAI1 gene, or loss‐of‐function mutations that directly affect RAI1. Due to the involvement of RAI1 in neurodevelopment, SMS leads to typical pathologic features in the behavioral and physical phenotype that must be ...
Edgar Andrés Chavarría‐Martínez, Julen Arellano‐Sandúa, Ruth Arias‐Hidalgo, Ana Patiño‐García, Adrián Cano‐Prous   +4 more
wiley   +1 more source

Clinical Exome Sequencing as a Key Diagnostic Tool: A Rare de novo <i>TRIO</i> Variant in Dizygotic Twins. [PDF]

Mol Syndromol
Bouchahta H, Sahli M, Amllal N, Ouhenach M, Sbabou L, Sefiani A.   +5 more
europepmc   +1 more source

Prenatal Diagnosis of Renal Anomalies Associated With a Novel Causative Variant in RAP1B Gene

Clinical Case Reports, Volume 14, Issue 3, March 2026.
A case of prenatal renal cystic disease and unilateral renal agenesis is reported. Molecular investigations including TRIO next‐generation sequencing analysis using the Clinical exome sequencing protocol identified the c.179G>T, p.(Gly60Val) “de novo” variant in a heterozygous state in the RAP1B gene.
Adalgisa Cordisco, Stefania Magliulo, Chiara Di Marco, Elisa Fortuna, Alessandra Terracciano, Claudio Meloni   +5 more
wiley   +1 more source

LZTS2 Negatively Regulates Centrosomal CEP135 Levels and Microtubule Nucleation

Cytoskeleton, Volume 83, Issue 3, Page 128-139, March 2026.
ABSTRACT The microtubule cytoskeleton is a fundamental functional component of the cell. In vertebrate proliferating cells, centrosomes are the primary microtubule organizing center (MTOC), and their dysregulation has been linked to genomic instability and cancer.
Catarina Peneda, Joana N. Bugalhao, Marco Antonio Dias Louro, Andreia Henriques‐Soares, Monica Bettencourt‐Dias   +4 more
wiley   +1 more source

Twins With Pathogenic <i>RNF113A</i> Variant Presenting With Testicular Regression Syndrome. [PDF]

JCEM Case Rep
Resnick O, Beauchamp G.
europepmc   +1 more source

PhyloRef: A Semi‐Automated Workflow for eDNA Reference Database Curation via Phylogenetic Anomaly Detection

Ecology and Evolution, Volume 16, Issue 3, March 2026.
PhyloRef processes complete mitochondrial genomes with optional multi‐gene concatenation to flag three categories of phylogenetic anomalies based on tree topology and annotates ambiguous sequences with “similar_to=” labels. The workflow successfully curated 7600+ chondrichthyan and actinopterygian sequences from NCBI, identifying and removing 410 ...
Yan Mai, Chenhong Li
wiley   +1 more source

Breastfeeding protects against malnutrition and growth failure in children with microcephaly associated with congenital Zika syndrome. [PDF]

Sci Rep
da Silva DS, Arrais NMR, Dos Santos LKC, Barbosa SS, Costa ÁDS, Lopes MMGD, da Silva Ribeiro KD.   +6 more
europepmc   +1 more source

Comparison of Environmental DNA Metabarcoding and Trawl Data Highlights Gear Selectivity of Marine Demersal Fish Surveys on the Faroese Plateau

Environmental DNA, Volume 8, Issue 2, March/April 2026.
The study compared trawl and eDNA metabarcoding of demersal fish communities in an open ocean environment around the Faroe Islands. eDNA provided a comparable assessment of demersal species biomass and revealed additional spatial information on keystone species known to be under‐sampled by demersal trawls due to size and behavioral traits.
I. Salter, M. Brandner, A. Djurhuus, K. Præbel, O. Wangensteen   +4 more
wiley   +1 more source

Defective Neural Stem and Progenitor Cell Proliferation in Neurodevelopmental Disorders. [PDF]

J Dev Biol
Shigenaka A, Nitta E, Nakagawa T, Nakagawa M, Hosoi T.   +4 more
europepmc   +1 more source