Results 161 to 170 of about 88,636 (324)

Advanced Paternal Age Impacts Common Loci in the Sperm and Placenta DNA Methylomes

open access: yesAndrology, EarlyView.
ABSTRACT Background Epidemiological studies have reported an association between advanced paternal age at conception and an increased risk of neurodevelopmental disorders in offspring, such as autism spectrum disorder. Evidence suggests that DNA methylation alterations in spermatozoa of older men may be transmitted to the feto‐placental unit and ...
Julia Barnwell   +12 more
wiley   +1 more source

The physiological and pathological effects of sphingolipid metabolism and signaling in the central nervous system

open access: yesBrain Pathology, EarlyView.
Sphingolipids are vital components of cell membranes. Metabolic disruptions of sphingolipids, including ceramide and sphingosine‐1‐phosphate, are linked to neurological disorders. This article summarizes the classification, structure, and metabolic processes of sphingolipids, and the physiological and pathological effects of sphingolipid metabolism and
Tian Li   +7 more
wiley   +1 more source

Microcephaly [PDF]

open access: yes, 2009
This issue of eMedRef provides information to clinicians on the pathophysiology, diagnosis, and therapeutics of ...
Michels, Thomas C.   +2 more
core  

Possible Association Between Zika Virus Infection and Microcephaly - Brazil, 2015.

open access: yesMMWR. Morbidity and mortality weekly report, 2016
L. Schuler‐Faccini   +14 more
semanticscholar   +1 more source

Maternal anorexia nervosa and risk of mental and neurodevelopmental morbidity in offspring

open access: yesChild and Adolescent Mental Health, EarlyView.
Background Anorexia nervosa has the potential to affect fetal neurodevelopment. We examined the association between maternal anorexia nervosa and mental, substance‐related, and neurodevelopmental morbidity in offspring. Methods We conducted a retrospective cohort study of 1,269,370 children in Quebec, Canada, between 2006 and 2022.
Sam Amar   +8 more
wiley   +1 more source

Association between Zika virus and microcephaly in French Polynesia, 2013–15: a retrospective study

open access: yesThe Lancet, 2016
S. Cauchemez   +11 more
semanticscholar   +1 more source

White–Sutton Syndrome: Insight of an Italian Cohort of 19 Subjects

open access: yesClinical Genetics, EarlyView.
New 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 ...
Anna Facchini   +14 more
wiley   +1 more source

A low pre-existing anti-NS1 humoral immunity to DENV is associated with microcephaly development after gestational ZIKV exposure [PDF]

open access: green
Sebastián Castro-Trujillo   +9 more
openalex   +1 more source

RNA Analysis Uncovers Pathogenic PARN Variant in Dyskeratosis Congenita

open access: yesClinical Genetics, EarlyView.
Using WGS and RNA analysis, we identified a branch point‐disrupting variant in the PARN gene and elucidated its pathogenic molecular mechanism in a child with atypical dyskeratosis congenita presentation. ABSTRACT Dyskeratosis congenita (DC) is a rare genetic disorder caused by impaired telomere maintenance, leading to diverse clinical manifestations ...
Daria Akimova   +3 more
wiley   +1 more source

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