Results 51 to 60 of about 968,335 (302)

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

The sociability spectrum: evidence from reciprocal genetic copy number variations

Molecular Autism, 2020
Sociability entails some of the most complex behaviors processed by the central nervous system. It includes the detection, integration, and interpretation of social cues and elaboration of context-specific responses that are quintessentially species ...
Alejandro López-Tobón, Sebastiano Trattaro, Giuseppe Testa   +2 more
doaj   +1 more source

Decoding NF1 Intragenic Copy-Number Variations [PDF]

The American Journal of Human Genetics, 2015
Genomic rearrangements can cause both Mendelian and complex disorders. Currently, several major mechanisms causing genomic rearrangements, such as non-allelic homologous recombination (NAHR), non-homologous end joining (NHEJ), fork stalling and template switching (FoSTeS), and microhomology-mediated break-induced replication (MMBIR), have been proposed.
Hsiao, Meng-Chang, Piotrowski, Arkadiusz, Callens, Tom, Fu, Chuanhua, Wimmer, Katharina, Claes, Kathleen B.M., Messiaen, Ludwine   +6 more
openaire   +2 more sources

Evaluation of SHOX copy number variations in patients with Müllerian aplasia [PDF]

, 2011
Peer ...
Maria Sandbacka, Mervi Halttunen, Varpu Jokimaa, Kristiina Aittomäki, Hannele Laivuori   +4 more
core   +1 more source

Copy Number Variation and Schizophrenia [PDF]

Schizophrenia Bulletin, 2009
Over the last 12 months, a series of major articles have reported associations with schizophrenia of copy number variants at 1q21, 15q11.2, 15q13.3, 16p11.2, 22q12, and Neurexin 1 loci. These are rare high-penetrant mutations that increase risk not only of schizophrenia but also of a range of other psychiatric disorders including autism and mental ...
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

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

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

De novo copy number variations in cloned dogs from the same nuclear donor [PDF]

, 2013
BACKGROUND: Somatic mosaicism of copy number variants (CNVs) in human body organs and de novo CNV event in monozygotic twins suggest that de novo CNVs can occur during mitotic recombination.
Byeong Lee, Geon A Kim, Hyun Oh, Jin-Soo Kim, Jung Park, Min Kim, Seon-Hee Yim, Seung-Hyun Jung, Tae-Min Kim, Yeun-Jun Chung   +9 more
core   +1 more source

‘They Need to Hear You Say It’: Healthcare Professionals’ Perspectives on Barriers and Enablers to End‐of‐Life Discussions With Adolescents and Young Adults With Cancer

Pediatric Blood &Cancer, EarlyView.
ABSTRACT End‐of‐life conversations with adolescents and young adults (AYAs) with cancer rarely occur without the guidance of healthcare professionals. As a part of the ‘Difficult Discussions’ study, focused on palliative care and advance care planning discussions with AYAs with cancer, we investigated the factors that healthcare professionals identify ...
Justine Lee, Holly Evans, Claire E. Wakefield, Antoinette Anazodo, Richard J. Cohn, Brittany C. McGill, Elizabeth A. Lobb, Lori Wiener, Madeleine L. Juhrmann, Ursula M. Sansom‐Daly   +9 more
wiley   +1 more source