Results 41 to 50 of about 1,144,251 (159)

CHARGE Syndrome: What an Otolaryngologist Should Know—A Systematic Review and Meta‐Analysis

Otolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objective To synthesize the prevalence of otolaryngologic manifestations in CHARGE syndrome (CS) to support otolaryngologists in delivering comprehensive management. Data Sources PubMed/MEDLINE, Embase, and Google Scholar were searched for English‐ and French‐language studies published from January 1980 through January 2025.
Camille Caron, Massil Badji, Camille Prigent, Alix Pincivy, Erika Mercier, Mathieu Bergeron   +5 more
wiley   +1 more source

Selected forms of therapy of a child with DiGeorge syndrome. A case study

Journal of Modern Science
DiGeorge syndrome is a genetically determined birth defect syndrome with an estimated incidence of once every 3,000-5,000 births. Among the most characteristic symptoms are features of facial dysmorphia, abnormalities of intellectual development and ...
Edyta Ewelina Osękowska, Natalia Malik, Malwina Dąbek, Magdalena Maria Skalny   +3 more
doaj   +1 more source

Cardiovascular Malformations in CHARGE Syndrome with DiGeorge Phenotype: Two Case Reports

Case Reports in Pediatrics, 2016
Both CHARGE syndrome and DiGeorge anomaly are frequently accompanied by cardiovascular malformations. Some specific cardiovascular malformations such as interrupted aortic arch type B and truncus arteriosus are frequently associated with 22q11.2 deletion
Kazushi Yasuda, Eiji Morihana, Naoki Fusazaki, Shiro Ishikawa   +3 more
doaj   +1 more source

Noncardiac DiGeorge syndrome diagnosed with multiplex ligation-dependent probe amplification: A case report

Journal of the Formosan Medical Association, 2015
DiGeorge syndrome is not really a rare disease. A microdeletion of chromosome 22q11.2 is found in most patients. Sharing the same genetic cause, a wide spectrum of clinical manifestations such as conotruncal anomaly face syndrome, Cayler cardiofacial ...
Chih-Hsuan Fu, Cheung Leung, Chuan-Hong Kao, Shu-Jen Yeh   +3 more
doaj   +1 more source

Long non‐coding RNAs at the crossroads of inflammation, cancer and angiogenesis: Molecular mechanisms and their potential as therapeutic targets

British Journal of Pharmacology, EarlyView.
Long non‐coding RNAs (lncRNAs), a broad class of non‐protein‐coding RNAs, are characterized as new regulators of gene expression at the epigenetic, transcriptional, and post‐transcriptional level. Thus, lncRNAs are involved in the regulation of physiological processes and the development of human diseases and cancer by modulating proinflammatory ...
Charlie Leboff, Pamela Calle‐Mendoza, Maria Hatziapostolou, Christos Polytarchou   +3 more
wiley   +1 more source

A Practical Guide to Chromosome Microarray Interpretation for Paediatricians

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Introduction Chromosome microarray (CMA) is a test commonly ordered by general paediatricians. It has diagnostic yield between 10%–15% in individuals with neurodevelopmental delay, autism and/or multiple congenital abnormalities. CMA identifies copy number variants (CNV) including deletions and duplications, which may be pathogenic, variants ...
Zachary E. McPherson, Margit Shah, Sarah Josephi‐Taylor, Brieana Dance, Benjamin Nash, Luke St Heaps, Dale Wright, Janette Hayward, Christopher Elliot, Joshua Steadson, Alan Ma   +10 more
wiley   +1 more source

A defect in early myogenesis causes Otitis media in two mouse models of 22q11.2 Deletion Syndrome [PDF]

, 2014
Otitis media (OM), the inflammation of the middle ear, is the most common disease and cause for surgery in infants worldwide. Chronic Otitis media with effusion (OME) often leads to conductive hearing loss and is a common feature of a number of ...
Fuchs, JC, Baldini, A, Linden, JF, Tucker, AS   +3 more
core  

Endothelial neuropilin disruption in mice causes DiGeorge syndrome-like malformations via mechanisms distinct to those caused by loss of Tbx1. [PDF]

PLoS ONE, 2012
The spectrum of human congenital malformations known as DiGeorge syndrome (DGS) is replicated in mice by mutation of Tbx1. Vegfa has been proposed as a modifier of DGS, based in part on the occurrence of comparable phenotypes in Tbx1 and Vegfa mutant ...
Jingjing Zhou, Mohammad Pashmforoush, Henry M Sucov   +2 more
doaj   +1 more source

Extracellular Vesicles: Classification, Biological Functions, Diseases, and Therapeutic Opportunities

MedComm, Volume 7, Issue 10, October 2026.
• EV content maintains cellular homeostasis and is involved in several disease onset and progression. • miRNA export in EVs depends on: RNA‐binding proteins recognizing motif sequences and on epitranscriptomic modifications. • The disclosure of delivery mechanisms is crucial for developing personalized EV‐based therapeutic tools. ABSTRACT Extracellular
Sabrina Garbo, Francesco Marocco, Clemens Zwergel, Marco Tripodi, Cecilia Battistelli   +4 more
wiley   +1 more source

Nucleases and Their Inhibitors: Exploring Biological Roles, Industrial Applications, and Challenges in Heterologous Expression

Biotechnology Journal, Volume 21, Issue 9, September 2026.
Graphical Abstract and Lay Summary Intracellular nucleases, depicted as blue circles in a nucleosome, hydrolyze phosphodiester bonds, repair damaged DNA using DNA base excision repair (BER), mismatch repair (MMR), and homologous recombination (HR), and are involved in DNA replication.
Wian Vermeulen, Anton Du Preez van Staden, Leon M. T. Dicks   +2 more
wiley   +1 more source