Results 61 to 70 of about 480,286 (292)

Evaluating the Utility of Paired Tumor and Germline Targeted DNA Sequencing for Pediatric Oncology Patients: A Single Institution Report

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield and utility of universal paired tumor–normal multigene panel sequencing in newly diagnosed pediatric solid and central nervous system (CNS) tumor patients and to compare the detection of germline pathogenic/likely pathogenic variants (PV/LPVs) against established clinical referral criteria for cancer ...
Natalie Waligorski, Rebecca Ronsley, Shannon M. Stasi, Jeffrey Stevens, Erin R. Rudzinski, Christina M. Lockwood, Sarah E. S. Leary, Bonnie L. Cole, Michelle A. Ting, Vera Paulson   +9 more
wiley   +1 more source

From rat pathophysiology to genomic medicine: an interview with Howard Jacob

Disease Models & Mechanisms, 2016
Howard Jacob is best known for pioneering genomic sequencing of a patient to solve a mysterious pediatric case in 2010. With roots in pharmacology and cardiovascular disease, however, his career has largely been dedicated to dissecting the physiology and
doaj   +1 more source

Domestication as innovation : the entanglement of techniques, technology and chance in the domestication of cereal crops [PDF]

, 2010
The origins of agriculture involved pathways of domestication in which human behaviours and plant genetic adaptations were entangled. These changes resulted in consequences that were unintended at the start of the process.
Allaby R., Bogaard A., Chris Stevens, Colledge S., Colledge S., Currat M., Dorian Q Fuller, Doust A N., Elbaum R., Fisher R A., Fuller D Q, Fuller D. Q, Fuller D. Q., Harlan J R., Harris D R., Harris D R., Helbaek H., Hillman G C., Hodder I., Horiuchi T., Jones M K., Kobayashi H., Kobayashi H., Lee R B., Moore A., Piperno D R., Robin G. Allaby, Sahlins M., Smith B D., Stevens C J., Vavilov N., Willcox G., Zohary D.   +32 more
core   +1 more source

Outcomes of Live Virus Vaccination in Patients With Vascular Anomalies Being Treated With Sirolimus

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Live vaccination in patients with vascular anomalies (VA) receiving sirolimus remains controversial due to immunosuppressive effects and theoretical risks. Procedure This single‐center retrospective study included patients with VA less than 4 years old at the start of sirolimus therapy who were incompletely vaccinated.
Svatava Merkle, Kiersten Ricci, Kelly Blache, Rebecca A. Marsh, Adrienne M. Hammill, Elissa Engel   +5 more
wiley   +1 more source

Prevalence and Trajectory of Household Material Hardship Among Children With Advanced Cancer

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background/Objectives Families of children with advanced cancer living in poverty experience inferior outcomes including poor parent mental health and worse child quality of life. Household material hardship (HMH: food, housing, transportation, and/or utility insecurity) is a modifiable poverty exposure—and potential intervention target—that ...
Sarah Wright, Morgan A. Paul, Selena Murcia Mendez, Emily Jones, Lucille Lokko, Chelsea Heneghan, Nicholas Purol, Morgan Arnold, Rahela Aziz‐Bose, Colleen A. Kelly, Sandi L. Pruitt, Joanne Wolfe, Kira Bona, Puja J. Umaretiya   +13 more
wiley   +1 more source

Financial Burden Associated With Hospitalisation Among Families of Childhood Brain Tumours in Australia

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Families of children with cancer experience significant financial strain, even with universal healthcare. Indirect costs, such as productivity losses and non‐medical expenses, are rarely included in economic evaluations, and little is known about how effectively financial aid programmes alleviate this burden. Childhood brain tumours
Megumi Lim, Natalie Bradford, David Brain, Sameera Senanayake, Sanjeewa Kularatna, Kate Young, Christine Cashion, Tim Hassall, Susanna Cramb   +8 more
wiley   +1 more source

Germline TP53 Mutations Causing Diamond–Blackfan Anemia: A French Report

Pediatric Blood &Cancer, EarlyView.
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, Lydie Da Costa, Ludivine David Nguyen, Heloise Chosseler, Audrey Riquet, Benedicte Bruno, Melissa Barbati   +6 more
wiley   +1 more source

Two Faces of NOTCH1 in Childhood Lymphoblastic T‐Cell Neoplasia: Prognostic Divergence of Mutational and Structural Aberrations

Pediatric Blood &Cancer, EarlyView.
ABSTRACT In pediatric patients, T‐cell lymphoblastic lymphoma (T‐LBL) survival exceeds 80%. Relapse remains associated with limited curative options. Frontline treatment is largely extrapolated from T‐cell acute lymphoblastic leukemia (T‐ALL) treatment, reflecting the ongoing debate, whether both entities represent distinct diseases or variants within ...
Marie C. Heider, Amelie Alfert, Marc Hotfilder, Birgit Burkardt, Marcel te Vrugt   +4 more
wiley   +1 more source

Simulation from endpoint-conditioned, continuous-time Markov chains on a finite state space, with applications to molecular evolution [PDF]

, 2009
Analyses of serially-sampled data often begin with the assumption that the observations represent discrete samples from a latent continuous-time stochastic process.
Hobolth, Asger, Stone, Eric A.
core   +1 more source

Genetically Transitional Disease and the Road to Personalized Medicine

Genes
Genetically transitional disease (GTD) is emerging as a new concept in genomic medicine to straddle between the traditional binary classification of monogenic and polygenic disease. Genetic testing result reports in molecular laboratories have been predicated on the monogenic disease model, which focuses on pathogenic and likely pathogenic variants ...
Qingping Yao, Peter D. Gorevic, Greg Gibson   +2 more
openaire   +2 more sources