Results 41 to 50 of about 188,720 (256)

Copy Number Variants Associated with 14 Cases of Self-Injurious Behavior. [PDF]

PLoS ONE, 2016
Copy number variants (CNVs) were detected and analyzed in 14 probands with autism and intellectual disability with self-injurious behavior (SIB) resulting in tissue damage.
Matthew D Shirley, Laurence Frelin, José Soria López, Anne Jedlicka, Amanda Dziedzic, Michelle A Frank-Crawford, Wayne Silverman, Louis Hagopian, Jonathan Pevsner   +8 more
doaj   +1 more source

Evaluation of D-loop hypervariable region I variations, haplogroups and copy number of mitochondrial DNA in Bangladeshi population with type 2 diabetes

Heliyon, 2021
The profound impact of mitochondrion in cellular metabolism has been well documented. Since type 2 diabetes (T2D) is a metabolic disorder, mitochondrial dysfunction is intricately linked with the disease pathogenesis.
Sajoy Kanti Saha, Abdullah Al Saba, Md. Hasib, Razoan Al Rimon, Imrul Hasan, Md. Sohrab Alam, Ishtiaq Mahmud, A.H.M. Nurun Nabi   +7 more
doaj   +1 more source

Clinical, Histopathological, and Molecular Characterization of Pediatric MN1::ZNF341‐Associated Cancer

Pediatric Blood &Cancer, EarlyView.
ABSTRACT A lethal round‐cell malignancy with an MN1::ZNF341 fusion has recently been reported in three infants. Here, we describe four further tumors, three in newborns (including monozygotic twins), and one in an adolescent. Detailed clinical, radiological, and histopathological data differentiate these tumors from their main mimics, neuroblastoma and
Thomas R. W. Oliver, Dyanne Rampling, Barbara Walkowiak, Nathaniel D. Anderson, Manas Dave, Henry Lee‐Six, Sadie Baskind, Pooja Balasubramanian, Glenn Anderson, Conor Parks, Toochi Ogbonnah, Emilia R. Robertson, Simon Hannam, Rohan Verma, John C. Achermann, Liina Palm, Neil Sebire, Thomas Jacques, Tom Watson, Carryl Dryden, Karin Straathof, Mette Jorgensen, Olga Slater, Sam Behjati, Sarita Depani, J. Ciaran Hutchinson   +25 more
wiley   +1 more source

Functional consequences of copy number variants in miscarriage [PDF]

Molecular Cytogenetics, 2015
Background: The presence of unique copy number variations (CNVs) in miscarriages suggests that their integral genes have a role in maintaining early pregnancy. In our previous work, we identified 19 unique CNVs in ~40% of studied euploid miscarriages, which were predominantly familial in origin.
Wen, Jiadi, Hanna, Courtney W, Martell, Sally, Leung, Peter C, Lewis, Suzanne M, Robinson, Wendy P, Stephenson, Mary D, Rajcan-Separovic, Evica   +7 more
openaire   +3 more sources

CNValidatron: accurate and efficient validation of PennCNV calls using computer vision

BMC Bioinformatics
Background Large, rare copy number variants (CNVs) are a main source of genetic variation in the genome and are important in both evolution and disease risk.
Simone Montalbano, G. Bragi Walters, Gudbjorn F. Jonsson, Jesper R. Gådin, Thomas Werge, Daniel F. Gudbjartsson, Hreinn Stefansson, Andrés Ingason   +7 more
doaj   +1 more source

A computational framework discovers new copy number variants with functional importance. [PDF]

PLoS ONE, 2011
Structural variants which cause changes in copy numbers constitute an important component of genomic variability. They account for 0.7% of genomic differences in two individual genomes, of which copy number variants (CNVs) are the largest component.
Samprit Banerjee, Derek Oldridge, Maria Poptsova, Wasay M Hussain, Dimple Chakravarty, Francesca Demichelis   +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

A Population‐Based Study on Childhood Aplastic Anemia—Incidence, Outcomes, and Health‐Related Quality of Life

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Childhood aplastic anemia (AA) is a rare disease, and both the disease itself and its treatment cause significant morbidity. We aimed to determine the contemporary incidence of childhood AA in Finland, to compare the clinical characteristics of AA against inherited bone marrow failure syndromes (IBMFS) and refractory cytopenia of ...
Lauri‐Matti Kulmala, Riitta Niinimäki, Tytti Pokka, Anu Huurre, Liisa Järvelä, Sauli Palmu, Tuuli Pöyhönen, Pauliina Utriainen, Henri Aarnivala   +8 more
wiley   +1 more source

Determining Parental Factors for Clinical Trial Attrition in Pediatric Acute Lymphoblastic Leukemia

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background/Objectives Despite high enrollment rates on Children's Oncology Group (COG) protocols, attrition after initial consent is challenging, introducing bias and prolonging trial completion. While adult oncology literature has identified predictors of withdrawal, little is known about caregiver decision‐making for child participation in ...
Kimberly L. Stathas, Jakob Q. Weiss, Kellee N. Parker, Cathy Lee‐Miller   +3 more
wiley   +1 more source

Zebrafish as a tool to study schizophrenia-associated copy number variants

Disease Models & Mechanisms, 2020
Schizophrenia remains one of the most debilitating human neurodevelopmental disorders, with few effective treatments and striking consequences felt by individuals, communities and society as a whole.
Philip D. Campbell, Michael Granato
doaj   +1 more source