Results 61 to 70 of about 272,726 (306)

Mosaic copy number variation in schizophrenia [PDF]

European Journal of Human Genetics, 2013
Recent reports suggest that somatic structural changes occur in the human genome, but how these genomic alterations might contribute to disease is unknown. Using samples collected as part of the International Schizophrenia Consortium (schizophrenia, n=3518; control, n=4238) recruited across multiple university research centers, we assessed single ...
Douglas M, Ruderfer, Kim, Chambert, Jennifer, Moran, Michael, Talkowski, Elizabeth S, Chen, Carolina, Gigek, James F, Gusella, Douglas H, Blackwood, Aiden, Corvin, Hugh M, Gurling, Christina M, Hultman, George, Kirov, Patrick, Magnusson, Michael C, O'Donovan, Michael J, Owen, Carlos, Pato, David, St Clair, Patrick F, Sullivan, Shaun M, Purcell, Pamela, Sklar, Carl, Ernst   +20 more
openaire   +2 more sources

BMT4me En Español: Multisite Feasibility and Usability Testing of a Spanish‐Language mHealth Adherence Support App for Spanish‐Speaking Caregivers of Children After Hematopoietic Stem Cell Transplantation and Cancer Treatment

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Medication nonadherence during the first 100 days after pediatric hematopoietic stem cell transplantation (HSCT) and during oncology treatment increases risk for complications. BMT4me is a caregiver‐facing mobile health (mHealth) application providing medication reminders, symptom tracking, and note‐taking features to support ...
Micah A. Skeens, Madeline R. Peek, Bianca Franklin, Emre Sezgin, Melissa Beauchemin   +4 more
wiley   +1 more source

Copy number variation in Parkinson's disease [PDF]

Genome Medicine, 2010
A central theme of human genetic studies is to understand genomic variation and how this underlies the inherited basis of disease. Genomic variation can provide increased biological understanding of disease processes, which is necessary to develop future treatments.
Toft, Mathias, Ross, Owen A
openaire   +2 more sources

Measurable Residual Disease Monitoring During Treatment for Pediatric Acute Myeloid Leukemia in First Relapse

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Survival after relapse in pediatric acute myeloid leukemia (AML) remains poor, highlighting the critical importance of identifying prognostic factors to guide optimal relapse management. Methods We investigated the prognostic impact of multiparameter flow cytometry (MFC) measurable residual disease (MRD) in 188 patients with first ...
Camilla Poulsen, Kristian Juul Sandahl, Lene Karlsson, Jonas Abrahamsson, Nira Arad‐Cohen, Daniel Cheuk, Barbara De Moerloose, Linda Fogelstrand, Jose Maria Fernandez Navarro, Bianca F. Goemans, Kirsi Jahnukainen, Gertjan Kaspers, Zhanna Kovalova, Monica Cheng Munthe‐Kaas, Ulrika Norén‐Nyström, Josefine Palle, Ramune Pasauliene, Cornelis Jan Pronk, Kadri Saks, Anne Tierens, Henrik Hasle, Kristian Løvvik Juul‐Dam   +21 more
wiley   +1 more source

Chromosomal Copy Number Variation Predicts EGFR-TKI Response and Prognosis for Patients with Non-Small Cell Lung Cancer [PDF]

, 2023
Haiyan He,1,* Hang Ma,1,* Zhuo Chen,2 Jingliang Chen,1 Dandan Wu,1 Xuedong Lv,1 Jie Zhu1 1Department of Respiratory Medicine, The Second Affiliated Hospital of Nantong University, Nantong First People’s Hospital, Nantong, Jiangsu, 226001, People ...
Zhu J, Chen Z, Chen J, Lv X, He H, Ma H, Wu D   +6 more
core  

ASSIST: Refinement of a Benefits Navigator Intervention Among Low‐Income Pediatric Oncology Families

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background/Objectives Children with cancer living in poverty experience worse survival and quality of life. Interventions connecting low‐income families to benefits (e.g., Supplemental Nutrition Assistance Program [SNAP] improve health outcomes; yet nearly 50% of SNAP‐eligible pediatric oncology families are unenrolled.
Puja J. Umaretiya, Selena Murcia Mendez, Jennifer Kellett, Sarah Wright, Marisel Ponton, Robin T. Higashi, Rahela Aziz‐Bose, Colleen A. Kelly, Ayesha Zia, Joanne Wolfe, Sandi L. Pruitt, Kira Bona   +11 more
wiley   +1 more source

Interpretation of genomic copy number variants using DECIPHER [PDF]

, 2012
Many patients suffering from developmental disorders have submicroscopic deletions or duplications affecting the copy number of dosage-sensitive genes or disrupting normal gene expression.
Bevan, P., Corpas, M., Bragin, E., Clayton, S., Firth, H.V.   +4 more
core   +1 more source

RETROSPECTIVE ANALYSIS OF ALPHA GLOBIN COPY NUMBER VARIATIONS DETERMINED BY MLPA IN THE TRAKYA REGION

İstanbul Tıp Fakültesi Dergisi, 2021
Objective: Alpha thalassemia is a common type of hemoglobinopathy that occurs as a result of deletions or point mutations in the alpha globin gene cluster.
Selma Demir, Hakan Gürkan, Damla Eker, Sinem Yalçıntepe, Emine İkbal Atlı, Engin Atlı   +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

False discovery rates and copy number variation [PDF]

, 2011
Copy number changes, the gains and losses of chromosome segments, are a common type of genetic variation among healthy individuals as well as an important feature in tumour genomes.
Nancy R. Zhang, Bradley Efron
core   +1 more source