Results 81 to 90 of about 10,524,108 (363)

Bridging the Gap in Neuroblastoma Care: Consensus‐Based Statements With Recommendations for Improved Patient and Caregiver Experiences

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Neuroblastoma's complex, heterogeneous biology poses significant diagnostic and therapeutic challenges, often requiring caregivers to absorb complex information and participate in time‐sensitive decisions. However, caregivers often feel unprepared to evaluate options.
Vickie Buenger, Joseph Bauer, Jennifer Diamond, Maggie Fader, Shae Hansen, Jacqueline M. Kraveka, Johanna Schoen, Amber Shearer, Dena Sherwood   +8 more
wiley   +1 more source

Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications

Genome Medicine, 2022
Background Approximately two third of patients with a rare genetic disease remain undiagnosed after exome sequencing (ES). As part of our post-test counseling procedures, patients without a conclusive diagnosis are advised to recontact their referring ...
Gaby Schobers, Jolanda H. Schieving, Helger G. Yntema, Maartje Pennings, Rolph Pfundt, Ronny Derks, Tom Hofste, Ilse de Wijs, Nienke Wieskamp, Simone van den Heuvel, Jordi Corominas Galbany, Christian Gilissen, Marcel Nelen, Han G. Brunner, Tjitske Kleefstra, Erik-Jan Kamsteeg, Michèl A. A. P. Willemsen, Lisenka E. L. M. Vissers   +17 more
doaj   +1 more source

Measuring intolerance to mutation in human genetics

Nature Genetics, 2018
In numerous applications, from working with animal models to mapping the genetic basis of human disease susceptibility, knowing whether a single disrupting mutation in a gene is likely to be deleterious is useful.
Z. Fuller, Jeremy J. Berg, H. Mostafavi, Guy Sella, M. Przeworski   +4 more
semanticscholar   +1 more source

Admixture Mapping Reveals Candidate Regions for Methotrexate Neurotoxicity Susceptibility: A Reducing Disparities in Acute Leukemia Consortium Report

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Neurotoxicity is a rare, often dose‐limiting adverse effect of methotrexate (MTX) therapy that disproportionally affects Latino children. Factors contributing to the observed disparity are not well understood. This study leveraged admixture mapping to identify genetic regions associated with MTX‐related neurotoxicity susceptibility ...
Rachel D. Harris, Priya B. Shetty, Olga A. Taylor, Elizabeth G. Atkinson, Melissa A. Richard, M. Monica Gramatges, Mark Zobeck, Sandi Pruitt, Amy Hughes, M. Brooke Bernhardt, Ashley Chavana, Van Huynh, Kathleen Ludwig, Laura Klesse, Kenneth Heym, Timothy Griffin, Rodrigo Erana, Juan Carlos Bernini, Han Chen, Bing Yu, Philip J. Lupo, Karen R. Rabin, Michael E. Scheurer, Austin L. Brown, The REDIAL Consortium   +24 more
wiley   +1 more source

H3K36 Methylation as a Guardian of Epigenome Integrity

Nature Communications
H3K36 methylation is a key epigenetic mark with critical roles in development and disease. Here, we systematically dissect its functions using CRISPR-engineered mouse mesenchymal stem cells lacking combinations of the five H3K36 methyltransferases ...
Reinnier Padilla, Gerry A. Shipman, Cynthia Horth, Michel Gravel, Eric Bareke, Jacek Majewski   +5 more
doaj   +1 more source

Inpatient Exposure, Confidence, and Knowledge in Pediatric Hematology/Oncology: Evaluating General Pediatric Residents During 2025 ACGME Curriculum Change

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background General pediatricians often evaluate hematologic and oncologic presentations before subspecialty consultation, yet the 2025 Accreditation Council for Graduate Medical Education (ACGME) pediatric requirements reduce inpatient pediatric hematology/oncology (PHO) time, raising questions about resident readiness.
Colburn Yu, Rohini Jain
wiley   +1 more source

Genome-wide methylation detection and episignature analysis using PacBio long-read sequencing

Genome Medicine
Background The detection of 5-methylcytosine (5mC) patterns in the human genome is relevant for the diagnosis of various genetic conditions. Genome-wide methylation episignatures provide a new approach for resolving variants of uncertain significance ...
Véronique Ivashchenko, Michelle de Groot, Ronny Derks, Amber den Ouden, Gelana Khazeeva, Simone van den Heuvel, Raoul Timmermans, Jordi Corominas Galbany, Rolph Pfundt, Tom Hofste, Helger Yntema, Lisenka Vissers, Alexander Hoischen, Juliet Hampstead, Christian Gilissen   +14 more
doaj   +1 more source

Resposta ao trabalho de Kent e Santos: "'Os charruas vivem' nos Gaúchos: a vida social de uma pesquisa de 'resgate' genético de uma etnia indígena extinta no Sul do Brasil"

Horizontes Antropológicos, 2012
As atividades oriundas de ações humanas, incluindo pesquisas científicas, são estruturadas sob contextos individuais e coletivos. A artigo de Kent e Santos considera isso num cenário específico, mas ao descreverem tal fato eles também dão margem a ações ...
Maria Cátira Bortolini
doaj   +1 more source

Sociodemographic Factors Associated With Later Stage at Diagnosis of Pediatric Germ Cell Tumors: A Report From Children's Oncology Group Registries ACCRN07 and APEC14B1

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Germ cell tumors (GCTs) often arise in the ovaries and testes (extracranial) but can also develop in the brain (intracranial). We examined the relationship of individual, family, and community‐level socioeconomic status (SES) with stage of disease at diagnosis in a cohort of pediatric patients with GCT from Children's Oncology Group
Heydon K. Kaddas, Judy Y. Ou, Todd Alonzo, Logan G. Spector, Negar Fallahazad, Emily Owens, Anne C. Kirchhoff, Adam L. Green   +7 more
wiley   +1 more source

Drosophila Toxicogenomics: genetic variation and sexual dimorphism in susceptibility to 4-Methylimidazole

Human Genomics
Background 4-methylimidazole is a ubiquitous and potentially carcinogenic environmental toxicant. Genetic factors that contribute to variation in susceptibility to its toxic effects are challenging to assess in human populations.
Katelynne M. Collins, Elisabeth Howansky, Sarah C. Macon-Foley, Maria E. Adonay, Vijay Shankar, Richard F. Lyman, Nestor Octavio Nazario-Yepiz, Jordyn K. Brooks, Rachel A. Lyman, Trudy F. C. Mackay, Robert R. H. Anholt   +10 more
doaj   +1 more source