Results 221 to 230 of about 87,727 (384)

Zika virus surveillance post‐epidemic in blood donors from São Paulo, Brazil 2016–2020

Transfusion Medicine, EarlyView.
Abstract Introduction Zika virus (ZIKV) is primarily transmitted through the bite of the Aedes aegypti mosquito, though transmission via blood transfusion has also been documented. During the 2015 ZIKV epidemic in Brazil, severe complications were observed in pregnant women, leading to fetal microcephaly. This study evaluated the persistence of ZIKV in
Suzete Cleusa Ferreira, José Eduardo Levi, Anna Shoko Nishiya, Cesar de Almeida‐Neto, Jerenice Esdras Ferreira, Juliana Derriga, Nanci A. Salles, Silvia Petrossi Gallo Polato, Katia C. Dantas, Edmir Boturão‐Neto, Martha Mathias Rocha, Vanderson Rocha, Alfredo Mendrone‐Jr   +12 more
wiley   +1 more source

The neurodevelopmental spectrum of CASK-related disorder. [PDF]

J Neurodev Disord
Martin J, Mavrogalou-Foti A, Eck J, Hattersley L, Baker K.   +4 more
europepmc   +1 more source

A multi‐omics investigation of sarcopenia and frailty: Integrating genomic, epigenomic and telomere length data

Experimental Physiology, EarlyView.
Abstract Sarcopenia and frailty are complex geriatric syndromes influenced by a combination of genetic and environmental factors. Recent studies suggest that specific genetic variants, DNA methylation patterns and shortened telomeres are associated with age‐related diseases and might contribute to the development of both sarcopenia and frailty. In this
Valentina Ginevičienė, Erinija Pranckevičienė, Alina Urnikytė, Laura Jurkūnaitė, Kristijona Gutauskaitė, Rūta Dadelienė, Justina Kilaitė, Ieva Eglė Jamontaitė, Asta Mastavičiūtė, Ildus I. Ahmetov, Vidmantas Alekna   +10 more
wiley   +1 more source

Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation associated with KIF11 pathogenic variant: case report and genotype-phenotype correlation analysis. [PDF]

BMC Ophthalmol
Peng J, Xie Y, Wang H, Huang L, Yang Y, Li N.   +5 more
europepmc   +1 more source

A Case-Control Etiologic Study of Microcephaly

, 2000
Ghada M. H. Abdel‐Salam, A. Czeizel
openalex   +1 more source

Autosomal Recessive Primary Microcephaly (MCPH): A Review of Clinical, Molecular, and Evolutionary Findings [PDF]

, 2005
C. Geoffrey Woods, Jacquelyn Bond, Wolfgang Enard   +2 more
openalex   +1 more source

Birth prevalence, clinical sequelae, and management of congenital cytomegalovirus infections in Australia, 1999–2023: a national prospective study

Medical Journal of Australia, EarlyView.
Abstract Objectives To investigate the birth prevalence, clinical manifestations, and management of congenital cytomegalovirus (CMV) infections in Australia, 1999–2023. Study design Longitudinal observational study; analysis of prospectively collected Australian Paediatric Surveillance Unit (APSU) data. Setting, participants Australia, 1 January 1999 –
Ece Egilmezer, Suzy M Teutsch, Carlos Nunez, Stuart T Hamilton, Adam W Bartlett, Pamela Palasanthiran, Elizabeth J Elliott, William D Rawlinson   +7 more
wiley   +1 more source

1 Mb Deletion in 10q26.3 and the Likely Pathogenic Variant in the TRIO Gene: A Twin Case Study Challenging Their Role in Autism Diagnosis. [PDF]

Case Rep Pediatr
Lakatošová S, Miklošovičová M, Konečný M, Wachsmannová L, Krasňanská G, Kopčíková M, Keményová P, Tomka M, Lisyová J, Ostatníková D, Repiská G.   +10 more
europepmc   +1 more source

AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear, Paul Kalitsis, Melissa Glass, Bertrand Isidor, Catherine Vincent‐Delorme, Florence Petit, Judith M. A. Verhagen, Alexander Jorge, Ana Cristina Victorino Krepischi, Ikeoluwa Osei‐Owusu, Eva Martinez, Anne O'Donnell‐Luria, Nicole de Leeuw, Sarah Ruggiero, Ingo Helbig, Francis David I, Natasha J. Brown   +16 more
wiley   +1 more source

Misregulated Chromosome Condensation in MCPH1 Primary Microcephaly is Mediated by Condensin II [PDF]

, 2005
Marc Trimborn, Detlev Schindler, Heidemarie Neitzel, Tatsuya Hirano   +3 more
openalex   +1 more source