Results 111 to 120 of about 22,857 (208)
Patient outcomes in KCNQ2 developmental and epileptic encephalopathy
Developmental Medicine &Child Neurology, Volume 68, Issue 8, Page 1063-1071, August 2026.Abstract The aim of this study was to review and summarize the literature describing clinically observed or caregiver‐reported and patient‐reported KCNQ2 developmental and epileptic encephalopathy (DEE) outcomes. Three online databases and selected congress proceedings were searched (August 2023).
Grant Maclaine +9 more
wiley +1 more source
Vectors and Vector‐Borne Diseases: Biology, Epidemiology and Integrated Control Strategies
Journal of Applied Entomology, Volume 150, Issue 7, Page 990-1015, August 2026.ABSTRACT Vector‐Borne Diseases (VBDs), transmitted by arthropods such as mosquitoes, ticks, fleas and sandflies, represent a significant threat to global health. These diseases can be caused by a variety of pathogens, including bacteria, viruses, protozoa, and helminths.
Roberta Rinaldi +4 more
wiley +1 more source
Germline TP53 Mutations Causing Diamond–Blackfan Anemia: A French Report
Pediatric Blood &Cancer, Volume 73, Issue 7, July 2026.ABSTRACT Diamond–Blackfan anemia is a rare congenital erythroblastopenia typically caused by mutations in ribosomal protein genes. Recently, gain‐of‐function mutations in TP53 have been identified as a novel cause of Diamond–Blackfan anemia. We report two French patients who both harbored a heterozygous TP53 deletion (NM_000546.5: c.1077delA; p ...
Rafael Moisan +6 more
wiley +1 more source
Associations of DNA Methylation Mortality Risk Markers with Congenital Microcephaly from Zika Virus: A Study of Brazilian Children Less than 4 Years of Age. [PDF]
J Trop Pediatr, 2021 Nwanaji-Enwerem JC +5 more
europepmc +1 more source
Gastrointestinal Manifestations in Rubinstein‐Taybi Syndrome
American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1491-1497, July 2026.ABSTRACT Rubinstein–Taybi syndrome is a rare genetic condition associated with a wide range of physical, cognitive, and developmental impairments, yet its gastrointestinal manifestations remain poorly characterized. Case reports and small series suggest a high prevalence of gastroesophageal reflux, constipation, dysphagia, and nutritional compromise ...
Mohamad Abi Nassif +3 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1696-1701, July 2026.ABSTRACT Sotos syndrome is an overgrowth disorder caused by nuclear receptor binding SET domain protein 1 (NSD1) haploinsufficiency, whereas reciprocal 5q35.2q35.3 microduplication produces a reversed phenotype with growth retardation, microcephaly, delayed bone age, and neurodevelopmental delay.
Sejin Kim, Jung Sook Ha, Jun Chul Byun
wiley +1 more source
CONGENITAL NEUROLOGICAL DISORDERS IN CHILDREN WITH MICROCEPHALY
Primary microcephaly ( PMCF) is a neurodevelopmental disorder characterized by a small brain size, primarily due to a decrease in the cerebral cortex, and varying degrees of mental retardation (Woods et al., 2005;Mahmood et al., 2011;Phan and Holland, 2021;Zaqout and Kaindl, 2021;Gupta, 2023) and several additional neurological problems such as ...
openaire +2 more sources
Congenital microcephaly with early onset epileptic encephalopathy caused by ASNS gene mutation: A case report. [PDF]
Medicine (Baltimore), 2020 Chen C, Hao Y, Liang J, Liu X.
europepmc +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1619-1650, July 2026.ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken +4 more
wiley +1 more source