Results 51 to 60 of about 182,078 (261)

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

E2F1 copy number variations in germline and breast cancer: a retrospective study of 222 Italian women

Molecular Medicine, 2021
Background Breast cancer is the most common neoplasia among women in developed countries. The risk factors of breast cancer can be distinguished in modifiable and unmodifiable factors and, among the latter, genetic factors play a key role.
Maria Santa Rocca, Clara Benna, Elena Goldin, Andrea Di Nisio, Luca De Toni, Ilaria Cosci, Alberto Marchet, Donato Nitti, Carlo Foresta   +8 more
doaj   +1 more source

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

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

Copy number variations in alternative splicing gene networks impact lifespan.

PLoS ONE, 2013
Longevity has a strong genetic component evidenced by family-based studies. Lipoprotein metabolism, FOXO proteins, and insulin/IGF-1 signaling pathways in model systems have shown polygenic variations predisposing to shorter lifespan.
Joseph T Glessner, Albert Vernon Smith, Saarene Panossian, Cecilia E Kim, Nagahide Takahashi, Kelly A Thomas, Fengxiang Wang, Kallyn Seidler, Tamara B Harris, Lenore J Launer, Brendan Keating, John Connolly, Patrick M A Sleiman, Joseph D Buxbaum, Struan F A Grant, Vilmundur Gudnason, Hakon Hakonarson   +16 more
doaj   +1 more source

Studying carrier frequency of spinal muscular atrophy in the State of Qatar and comparison to other ethnic groups: Pilot study

Molecular Genetics & Genomic Medicine, 2023
Background Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by mutations and deletions in SMN1 at exon 7. The carrier frequency for SMN1 mutations ranges from 2 to 4% in the general population. Methods We examined allelic, genotypic
Faisal Ibrahim, Dinesh Velayutham, Mohamed Alsharshani, Usama AlAlami, Manar AlDewik, Tala Abuarja, Hilal Al Rifai, Nader I. Al‐Dewik   +7 more
doaj   +1 more source

Whole-Genome/Exome Sequencing Uncovers Mutations and Copy Number Variations in Primary Diffuse Large B-Cell Lymphoma of the Central Nervous System

Frontiers in Genetics, 2022
Background/objective: Identification of key genetic alterations is of importance in the targeted therapies of primary central nervous system lymphoma (PCNSL). However, only a small number of studies have been carried out in PCNSL.
Qiong Zhu, Jianchao Wang, Wenfang Zhang, Weifeng Zhu, Zaizeng Wu, Yanping Chen, Musheng Chen, Limei Zheng, Jianqing Tang, Sheng Zhang, Di Wang, Xingfu Wang, Gang Chen   +12 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

Enhancer chip: detecting human copy number variations in regulatory elements.

PLoS ONE, 2012
Critical functional properties are embedded in the non-coding portion of the human genome. Recent successful studies have shown that variations in distant-acting gene enhancer sequences can contribute to disease.
Marco Savarese, Giulio Piluso, Daniela Orteschi, Giuseppina Di Fruscio, Manuela Dionisi, Francesca del Vecchio Blanco, Annalaura Torella, Teresa Giugliano, Michele Iacomino, Marcella Zollino, Giovanni Neri, Vincenzo Nigro   +11 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