Results 51 to 60 of about 12,100,252 (298)

X-CNV: genome-wide prediction of the pathogenicity of copy number variations

Genome Medicine, 2021
Background Gene copy number variations (CNVs) contribute to genetic diversity and disease prevalence across populations. Substantial efforts have been made to decipher the relationship between CNVs and pathogenesis but with limited success.
Li Zhang, Jingru Shi, Jian Ouyang, Riquan Zhang, Yiran Tao, Dongsheng Yuan, Chengkai Lv, Ruiyuan Wang, Baitang Ning, Ruth Roberts, Weida Tong, Zhichao Liu, Tieliu Shi   +12 more
doaj   +1 more source

Copy Number Variation of Circulating Tumor DNA (ctDNA) Detected Using NIPT in Neoadjuvant Chemotherapy-Treated Ovarian Cancer Patients

Frontiers in Genetics, 2022
Analysis of circulating tumor DNA (ctDNA) can be used to characterize and monitor cancers. Recently, non-invasive prenatal testing (NIPT) as a new next-generation sequencing (NGS)-based approach has been applied for detecting ctDNA.
Mina Sharbatoghli, Mina Sharbatoghli, Fahimeh Fattahi, Hamidreza Aboulkheyr Es, Arvand Akbari, Setareh Akhavan, Marzieh Ebrahimi, Mohsen Asadi-Lari, Mohsen Asadi-Lari, Mehdi Totonchi, Mehdi Totonchi, Zahra Madjd, Zahra Madjd   +12 more
doaj   +1 more source

Copy Number Variation in Tourette Syndrome [PDF]

Neuron, 2017
In the current issue of Neuron, Huang et al. (2017) provide new insights from a consortium study of Tourette syndrome pinpointing copy number variations that are involved in the genomic architecture and implicate genes of interest.
Anne S, Bassett, Stephen W, Scherer
openaire   +2 more sources

“We Cannot Talk as a Family”: Complexities of Survivorship Communication Among Hispanic/Latino Young Adult Survivors of Childhood Cancer, Parents, and Clinicians

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Young adult childhood cancer survivors (YA‐CCS) have an increased risk of treatment‐related health complications throughout their lives. Lifelong survivorship care is recommended, yet many YA‐CCS experience disruptions in care during pediatric‐to‐adult transitions and do not receive recommended survivorship care.
Kevin Shanchen Pu, Nicole Fernández‐Viña, Briana C. Martin‐Villa, Daniela Ramirez, Rebecca M. Lewinsohn, Mary Smith, Heidi Boynton, Lidia Schapira, Stephanie M. Smith   +8 more
wiley   +1 more source

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

Feeding, Fear, and Acceptance: Caregivers’ Experiences of Nutritional Support During Childhood Cancer Treatment

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Purpose To explore caregivers' experiences and perceptions of the nutritional challenges faced by children and adolescents undergoing cancer treatment, including oral intake and the use of nutritional support. Methods This was a qualitative study based on focus groups with parents and caregivers at a Brazilian pediatric oncology hospital ...
Danyelle Apparecida Balsamão Marques, Mariana dos Santos Murra, Welinton Hirai, Ana Laura Balduino do Nascimento, Karla Emilia de Sá Rodrigues, Wilson Elias de Oliveira Junior   +5 more
wiley   +1 more source

Whole exome sequencing: a new era in prenatal diagnostics

Journal of Translational Medicine
Background Advances in bioinformatics have revealed the potential of whole exome sequencing (WES) for copy number variations (CNVs) detection. This study aimed to evaluate whether WES can replace low pass copy number variation sequencing (CNV-seq) for ...
Panlai Shi, Conghui Wang, Yanjie Xia, Zili Li, Zhi Gao, Xiangdong Kong   +5 more
doaj   +1 more source

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

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

Lorlatinib‐Containing Therapy for MYCN‐Amplified, ALK‐Mutated Neuroblastoma With Bulky Leptomeningeal Relapse: A Case Report

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Central nervous system (CNS) relapse of neuroblastoma carries a poor prognosis, and craniospinal irradiation (CSI) poses substantial long‐term toxicity in young children. We report a toddler with MYCN‐amplified neuroblastoma harboring somatic ALK R1275Q who developed extensive leptomeningeal relapse with paraplegia.
Jinwoo Kim, Minji Kim, Nani Jung, Sung Eun Kim, Ji Yoon Kim, Mi Ae Chu, Jung Eun Kwon, Yeo Hyang Kim, So Mi Lee, Ki‐Su Park, Jeong Eun Lee, Ye Jee Shim   +11 more
wiley   +1 more source