Results 61 to 70 of about 353,576 (232)

DNA rare copy number alterations in Reinke’s Edema

Brazilian Journal of Otorhinolaryngology, 2023
Introduction: Reinke’s Edema (RE) is a laryngeal lesion related to excessive tobacco smoking, voice overuse, and laryngopharyngeal reflux. Although the risk of malignancy has been considered low in literature, RE is classified among precancerous lesions.
Luis Eduardo Silva Móz, Regina Helena Garcia Martins, Rainer Marco Lopez Lapa, Rolando André Rios Villacis, Patricia Pintor dos Reis, Silvia Regina Rogatto   +5 more
doaj   +1 more source

Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders. [PDF]

, 2019
Identification of genetic biomarkers associated with autism spectrum disorders (ASDs) could improve recurrence prediction for families with a child with ASD.
Brian, J, Bryson, SE, Buchanan, JA, D'Abate, L, Davies, RW, Dobkins, K, Howe, J, Landa, R, Leef, J, Messinger, D, Ozonoff, S, Scherer, SW, Smith, IM, Stone, WL, Tammimies, K, Thiruvahindrapuram, B, Walker, S, Warren, ZE, Wei, J, Young, G, Yuen, RKC, Zwaigenbaum, L   +21 more
core   +2 more sources

A novel technique for measuring variations in DNA copy-number: competitive genomic polymerase chain reaction

BMC Genomics, 2007
Background Changes in genomic copy number occur in many human diseases including cancer. Characterization of these changes is important for both basic understanding and diagnosis of these diseases. Microarrays have recently become the standard technique
Nakagawara Akira, Kawamoto Shoko, Saito Sakae, Nakamura Yohko, Maekawa Kazunori, Iwao-Koizumi Kyoko, Kato Kikuya   +6 more
doaj   +1 more source

Mathematical analysis of copy number variation in a DNA sample using digital PCR on a nanofluidic device. [PDF]

PLoS ONE, 2008
Copy Number Variations (CNVs) of regions of the human genome have been associated with multiple diseases. We present an algorithm which is mathematically sound and computationally efficient to accurately analyze CNV in a DNA sample utilizing a ...
Simant Dube, Jian Qin, Ramesh Ramakrishnan   +2 more
doaj   +1 more source

Nanopore sequencing from liquid biopsy: analysis of copy number variations from cell-free DNA of lung cancer patients

bioRxiv, 2020
In the “precision oncology” era the characterization of tumor genetic features is a pivotal step in cancer patients’ management. Liquid biopsy approaches, such as analysis of cell-free DNA from plasma, represent a powerful and noninvasive strategy to ...
Filippo Martignano, S. Crucitta, A. Mingrino, R. Semeraro, M. Del Re, I. Petrini, A. Magi, S. Conticello   +7 more
semanticscholar   +1 more source

Rapid detection of copy number variations and point mutations in BRCA1/2 genes using a single workflow by ion semiconductor sequencing pipeline [PDF]

, 2018
Molecular analysis of BRCA1 (MIM# 604370) and BRCA2 (MIM #600185) genes is essential for familial breast and ovarian cancer prevention and treatment.
Amanti, C, De Marchis, L, Germani, A, Libi, F, Lombardi, A, Maggi, S, Mattei, M, Pellegrini, P, Piane, M, Pizzuti, A, Stanzani., G, Torrisi, Mr   +11 more
core   +1 more source

A comprehensive profile of DNA copy number variations in a Korean population: identification of copy number invariant regions among Koreans

Experimental and Molecular Medicine, 2009
To examine copy number variations among the Korean population, we compared individual genomes with the Korean reference genome assembly using the publicly available Korean HapMap SNP 50 k chip data from 90 individuals.
Jae-Pil Jeon, Sung-Mi Shim, Jongsun Jung, Hye-young Nam, Hyejin Lee, B. Oh, K. Kimm, Hyung-Lae Kim, B. Han   +8 more
semanticscholar   +1 more source

Loss of the candidate tumor suppressor ZEB1 (TCF8, ZFHX1A) in Sézary syndrome [PDF]

, 2018
Cutaneous T-cell lymphoma is a group of incurable extranodal non-Hodgkin lymphomas that develop from the skin-homing CD4+ T cell. Mycosis fungoides and Sézary syndrome are the most common histological subtypes.
Benucci, Roberto, Bresin, Antonella, Caprini, Elisabetta, Cristofoletti, Cristina, Helmer Citterich, Mauro, Monopoli, Alessandro, Narducci, Maria Grazia, Russo, Giandomenico, Scala, Enrico, Tocco, Valeria   +9 more
core   +2 more sources

Next generation sequencing and array-based comparative genomic hybridization for molecular diagnosis of pediatric endocrine disorders [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2017
Next-generation sequencing (NGS) and array-based comparative genomic hybridization (array CGH) have enabled us to perform high-throughput mutation screening and genome-wide copy number analysis, respectively.
Maki Fukami, Mami Miyado
doaj   +1 more source

Combining chromosomal arm status and significantly aberrant genomic locations reveals new cancer subtypes [PDF]

, 2008
Many types of tumors exhibit chromosomal losses or gains, as well as local amplifications and deletions. Within any given tumor type, sample specific amplifications and deletionsare also observed.
Domany, Eytan, Hegi, Monika E., Lambiv, Wanyu L., Reiner, Anat, Shay, Tal   +4 more
core   +4 more sources