Results 131 to 140 of about 438,911 (213)
Clinical Genetics, Volume 110, Issue 5, Page 527-537, November 2026.Noonan syndrome and related conditions are caused by variants in multiple genes. We analyzed 456 Russian patients using a 23‐gene panel and found disease‐causing variants in non‐PTPN11 genes in 85 cases. NF1, SOS1, BRAF, and SHOC2 explained half of these diagnoses.
Anna Orlova +5 more
wiley +1 more source
The FASEB Journal, Volume 40, Issue 20, 31 October 2026.Endothelial Matrin‐3 suppresses cellular senescence and protects against atherosclerosis. Matrin‐3 deficiency induces endothelial senescence, mitochondrial dysfunction, and activation of p53‐, cell cycle‐, and senescence‐related pathways. In atherosclerosis‐prone mice, endothelial Matrin‐3 deletion promotes atherosclerotic lesion formation and disrupts
Xiao Cheng +5 more
wiley +1 more source
Turkish neonatal society guideline on the management of patent ductus arteriosus in preterm infants
, 2018 Ductus arteriosus is a physiologic phenomenon in utero and it closes spontaneously in term babies. The closure is problematic in preterm infants due to the intrinsic properties of the preterm ductus arteriosus tissue.
Aygün, Canan +2 more
core +1 more source
Arthritis Care &Research, Volume 78, Issue 10, Page 1510-1521, October 2026.People with systemic autoimmune and rheumatic diseases (SARDs) are at higher risk than the general population of experiencing adverse pregnancy and perinatal outcomes such as preeclampsia, intrauterine growth restriction, and maternal and/or fetal death.
Mehret Birru Talabi, Sonya Borrero
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2331-2337, October 2026.ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli +11 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2350-2356, October 2026.ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo +3 more
wiley +1 more source
Peripartum Anesthetic Management of a Patient With Sickle Cell Disease and Preeclampsia
Clinical Case Reports, Volume 14, Issue 10, October 2026.ABSTRACT Peripartum care for patients with sickle cell disease and preeclampsia requires coordinated multidisciplinary management. Key strategies include multimodal analgesia, individualized transfusion protocols, and vigilant maternal‐fetal monitoring.
Madeline Dow +2 more
wiley +1 more source
Health Science Reports, Volume 9, Issue 10, October 2026.ABSTRACT Background and Aims Since the discovery of major blood groups, the potential relationship between blood groups and various diseases has garnered interest. Most studies in this area have focused on adults, with comparatively fewer related to children, particularly newborns.
Seyyed Mohammad Hassan Aletayeb +4 more
wiley +1 more source
Journal of Clinical Laboratory Analysis, Volume 40, Issue 19, October 2026.Distal 1q43q44 deletions lead to a consistent neurodevelopmental phenotype characterized by microcephaly, corpus callosum abnormalities, and developmental delay. Despite differences in genomic architecture, overlapping deletions affecting dosage‐sensitive genes such as AKT3, HNRNPU, and ZBTB18 define the core phenotype.
Ma. Guadalupe Domínguez‐Quezada +6 more
wiley +1 more source
Journal of Arrhythmia, Volume 42, Issue 5, October 2026.This 30‐year retrospective study of pediatric permanent pacing found acceptable long‐term device complication rates, with epicardial leads used predominantly. Pacing‐induced cardiomyopathy occurred only in children with congenital heart disease, highlighting the need for individualized pacing strategies in this cohort and long‐term echocardiographic ...
Jiahui Charmaine Chan +12 more
wiley +1 more source