Results 141 to 150 of about 100,877 (263)

Responses of Antarctic seabird populations to past climate change

Ecography, EarlyView.
Higher‐order predators such as Antarctic seabirds serve as ecological indicators of environmental change and provide a crucial trophic link between marine and terrestrial ecosystems. Despite their prevalence and significance in the Antarctic ecosystem, there is a lack of understanding of the impacts of major regime shifts in paleoclimate on flighted ...
Elize Y. X. Ng, Louise Emmerson, Barbara Wienecke, Fabiola León Miranda, Colin Southwell, Juliana A. Vianna, Christopher P. Burridge   +6 more
wiley   +1 more source

Navigating the complexities of dual CNV findings: a case of DEE7 caused by a <i>de novo KCNQ2</i> deletion and a Co-occurring chromosome 13 duplication - a case report and literature review. [PDF]

Front Pediatr
Qi Y, Lin S, Zhou Y, Chen Y, Feng X, Jiang K, Feng J.   +6 more
europepmc   +1 more source

Systemic aging fuels heart failure: Molecular mechanisms and therapeutic avenues

ESC Heart Failure, Volume 12, Issue 2, Page 1059-1080, April 2025.
Abstract Systemic aging influences various physiological processes and contributes to structural and functional decline in cardiac tissue. These alterations include an increased incidence of left ventricular hypertrophy, a decline in left ventricular diastolic function, left atrial dilation, atrial fibrillation, myocardial fibrosis and cardiac ...
Zhuyubing Fang, Umar Raza, Jia Song, Junyan Lu, Shun Yao, Xiaohong Liu, Wei Zhang, Shujuan Li   +7 more
wiley   +1 more source

Expanding the phenotypic spectrum of Xq28 duplication involving MECP2: a familial case report. [PDF]

Front Psychiatry
Gaberova K, Pacheva IH, Yordanova R, Todorov T, Todorova A, Grozdanova L, Panova M, Georgieva M, Ivanov IS.   +8 more
europepmc   +1 more source

Genetic testing among patients evaluated for epilepsy surgery

Epileptic Disorders, EarlyView.
Abstract Objective Genetic testing performed to identify the underlying etiology of epilepsy has become increasingly common and is now being recommended as part of the presurgical evaluation for epilepsy surgery. This study aimed to characterize the types of genetic tests performed in patients evaluated for epilepsy surgery and assess how genetic ...
Anni Saarela, Veera‐Julia Kuronen, Oskari Timonen, Leena Jutila, Katri Silvennoinen, Annemari Kilpeläinen, Jarkko Kirjavainen, Reetta Kälviäinen   +7 more
wiley   +1 more source

Quantifying the Influence of Genetic Context on Duplicated Mammalian Genes. [PDF]

Mol Biol Evol
Moffett AS, Falcón-Cortés A, Di Pierro M.   +2 more
europepmc   +1 more source

Electroclinical phenotypes—genetic characterization of developmental and epileptic encephalopathies in a cohort study

Epileptic Disorders, EarlyView.
Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by refractory seizures and frequently recurring epileptic activity with neurodevelopmental delay or regression that usually begin in early life. We aimed to define the relationship between electroclinical features and etiology, as well as the genotype–phenotype ...
Burcu Yaman, Fulya Kurekci, Sinan Akbas, Ceyda Oney, Mehmet Akif Kilic, Hulya Maras Genc, Ayca Dilruba Aslanger, Edibe Pembegul Yildiz   +7 more
wiley   +1 more source

Evolution in metazoans of the TRPM channel family involves multiple gains and losses of genes and domains. [PDF]

Mol Biol Evol
Morini M, Bergqvist C, Asturiano JF, Dufour S, Larhammar D.   +4 more
europepmc   +1 more source

Management of ring chromosome 20 syndrome: Narrative review and consensus recommendations

Epilepsia, EarlyView.
Abstract Ring chromosome 20 (ring 20) is a rare genetic condition usually presenting as developmental and epileptic encephalopathy. The disease is caused by fusion of the long and short arms of chromosome 20. Patients are symptomatic even if there is no loss of genetic material.
Asma Khamis, Emilia Ricci, Maria Paola Canevini, Lieven Lagae, Kentaro Tokumoto, Yushi Inoue, Tim Buckinx, Allison Watson, Kenneth A. Myers   +8 more
wiley   +1 more source

Discrepant findings of prenatal diagnostics in a case of fetal partial trisomy 21 and fetoplacental mosaicism. [PDF]

Mol Cytogenet
Dittrich T, Wenzel R, Beck A, Dahlum S, Siebert R, Friebe-Hoffmann U, Bens S.   +6 more
europepmc   +1 more source