Results 11 to 20 of about 126,587 (112)
The Ketogenic Diet in the Neonatal Intensive Care Setting: The Case of a Preterm Newborn With Mitochondrial DNA Depletion Syndrome Type 13 (MTDPS13). [PDF]
Case Rep GenetBackground Mitochondrial DNA depletion syndrome 13 (MTDPS13) is an autosomal recessive disorder presenting in early infancy with encephalopathy, hypotonia, lactic acidosis, and severe global developmental delay. Patient‐derived cells typically exhibit impaired mitochondrial oxidative phosphorylation and a marked reduction in mitochondrial DNA (mtDNA ...
D'Amato G +5 more
europepmc +2 more sources
White-Sutton Syndrome: Insight of an Italian Cohort of 19 Subjects. [PDF]
Clin GenetNew insights into White–Sutton syndrome with a collection of 19 Italian patients. Due to its complexity, we stress the importance of a systematic evaluation following the diagnosis and a thoughtful management of patients. Preliminary genotype–phenotype correlation analysis suggests the association between disruptive splicing variants and more severe ...
Facchini A +14 more
europepmc +2 more sources
Prospective Longitudinal Cohort of Argentinean Patients with Progressive Supranuclear Palsy: A Platform for Epidemiological and Translational Research [PDF]
Alzheimers DementAbstract Background Progressive supranuclear palsy (PSP) and corticobasal syndrome (CBS) are two neurodegenerative disorders that manifest disabling postural instability, parkinsonism, cognitive impairment and falls with brain neurofibrillary tangle lesions containing 4‐repeat tau protein. The prevalence is 6/100,000 inhabitants but estimated only from
Couto B +12 more
europepmc +2 more sources
Allergy, EarlyView.ABSTRACT This update and revision of the international guideline for urticaria was developed in accordance with the methods recommended by Cochrane and the Grading of Recommendations Assessment, Development and Evaluation (GRADE) working group. It is an initiative of the Global Allergy and Asthma Excellence Network (GA2LEN) and its Urticaria and ...
T. Zuberbier +221 more
wiley +1 more source
Developmental Medicine &Child Neurology, EarlyView.Resumo Objetivo Estabelecer uma descrição geral das pessoas com paralisia cerebral (PC) no Brasil, incluindo a epidemiologia, características clínicas, funcionalidade e acesso à reabilitação e equipamentos, pela perspectiva da Classificação Internacional de Funcionalidade, Incapacidade e Saúde (CIF), utilizando dados preliminares do Registro Brasileiro
Hércules Ribeiro Leite +10 more
wiley +1 more source
New Evidence of TLR4 and TLR9 Variants Influencing Parasitaemia and Symptoms of Plasmodium vivax Infection. [PDF]
Int J ImmunogenetABSTRACT Toll‐like receptors (TLRs) induce the production of pro‐inflammatory cytokines and regulate the immune response to Plasmodium vivax infection. Genetic variants of TLRs are associated with susceptibility and severity of malaria in different populations. This study aimed to evaluate the association between polymorphisms in TLR1, TLR4, TLR7, TLR8,
Silva MMRI +8 more
europepmc +2 more sources
Haemophilia, EarlyView.ABSTRACT Introduction Inhibitor development remains one of the most serious complications of replacement therapy in patients with hemophilia. Tumour necrosis factor‐alpha (TNF‐α) is a key pro‐inflammatory cytokine, and its genetic variants have been implicated in immune‐related conditions.
Alessandra Faustino da Conceição Bezerra +3 more
wiley +1 more source
Journal of Sleep Research, EarlyView.ABSTRACT Obstructive sleep apnea (OSA), marked by intermittent hypoxia, is associated with obesity, type 2 diabetes and metabolic associated fatty liver disease. In pregnancy, it remains underdiagnosed despite links to gestational diabetes, hypertension, and foetal growth restriction.
Esther Valverde‐Perez +6 more
wiley +1 more source
Plant Biotechnology Journal, EarlyView.Structure of the cultivated citrus super‐pangenome. ABSTRACT The main genetic diversity observed in cultivated citrus results from a reticulate evolution involving four ancestral taxa whose radiation occurred in allopatry. In such context, GWAS analysis, genome diversity and transcriptomic studies will be significantly enhanced through pangenome ...
Gaetan Droc +27 more
wiley +1 more source
Clinical Genetics, Volume 109, Issue 4, Page 707-716, April 2026.Chromatinopathies (CP) are a growing group of rare genetic disorders characterized by cognitive deficits and growth abnormalities. This is the largest collection of CP to date, contributing to a deeper understanding of the landscape and diagnosis of these rare diseases, strongly improved by the use of large‐scale sequencing technologies.
Giulia Bruna Marchetti +16 more
wiley +1 more source