Relevant bibliographies by topics / Hearing Loss,illumina,Agilent

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  1. Journal articles
  2. Dissertations / Theses

Academic literature on the topic 'Hearing Loss,illumina,Agilent'

Author: Grafiati
Published: 11 March 2023
Last updated: 31 July 2025

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Journal articles on the topic "Hearing Loss,illumina,Agilent"

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Liu, Xiao-Wen, Su-Yang Wang, Zhan-Kui Xing, et al. "Targeted next-generation sequencing identified a novel variant of SOX10 in a Chinese family with Waardenburg syndrome type 2." Journal of International Medical Research 48, no. 11 (2020): 030006052096754. http://dx.doi.org/10.1177/0300060520967540.

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Objective Waardenburg syndrome type 2 (WS2) is an autosomal dominant syndrome, characterized by bright blue eyes, hearing loss, and depigmented patches of hair and skin. It exhibits high phenotypic and genetic heterogeneity. We explored the molecular etiology in a Chinese family with WS2. Methods We recruited a three-generation family with three affected members. Medical history was obtained from all family members who underwent detailed physical examinations and audiology tests. Genomic DNA was extracted from peripheral blood of each individual, and 139 candidate genes associated with hearing
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Madison, Farrah N., Matthew A. Conte, Jane A. Brown, Karen L. Carleton, and Robert J. Dooling. "Whole genome sequencing identifies genetic candidates for high-frequency hearing loss in canaries (serinus canaria)." Journal of the Acoustical Society of America 157, no. 4 (2025): 2330–35. https://doi.org/10.1121/10.0036218.

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Over hundreds of years, breeders have selectively bred different strains of canaries for plumage and song characteristics. One strain, the Belgian Waterslager canary, has been bred for loud, low frequency song and coincidently has been found to have a high-frequency hearing loss due to damaged and missing hair cells in the basilar papilla. Here, we investigated the possible genetic basis for this hearing loss in the Belgian Waterslager canary by conducting whole-genome Illumina (San Diego, CA) sequencing in three canary strains. We identified a total of 16 Belgian Waterslager male-specific “hi
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Gunnarsson, Rebeqa, Johan Staaf, Mattias Jansson, et al. "Screening for Copy Number Alterations and Loss of Heterozygosity in Chronic Lymphocytic Leukemia - A Comparative Study of Four Differently Designed, High Resolution Microarray Platforms." Blood 110, no. 11 (2007): 2084. http://dx.doi.org/10.1182/blood.v110.11.2084.2084.

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Abstract Screening for copy number alterations (CNA) has improved by applying genome wide microarrays, where SNP-arrays also allow analysis of loss of heterozygosity (LOH). Currently, comparisons of high resolution microarray platforms are few, thus we performed a study to evaluate the power of differently designed microarrays for copy number analysis and LOH. We here analyzed 10 diagnostic chronic lymphocytic leukemia (CLL) samples (five IGVH mutated and five IGVH unmutated) using four different high-resolution platforms: BAC-arrays (32K), oligonucleotide-arrays (185K, Agilent), and two SNP-a
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Hosono, Katsuhiro, Yuko Harada, Kentaro Kurata, et al. "NovelGUCY2DGene Mutations in Japanese Male Twins with Leber Congenital Amaurosis." Journal of Ophthalmology 2015 (2015): 1–10. http://dx.doi.org/10.1155/2015/693468.

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Purpose. Leber congenital amaurosis (LCA), a genetically and clinically heterogeneous disease, is the earliest onset retinitis pigmentosa (RP) and is the most severe of hereditary retinal dystrophies. This study was conducted to investigate genetic and clinical features of LCA in a set of Japanese male twins with LCA.Methods. To identify causative mutations, 74 genes known to cause RP or LCA were examined by targeted-next generation sequencing (NGS). Targeted-NGS was performed using a custom designed Agilent HaloPlex target enrichment kit with Illumina Miseq sequencer. Identified potential pat
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Hagleitner, Melanie M., Marieke J. H. Coenen, Hans Gelderblom, Peter Hoogerbrugge, Henk-jan Guchelaar, and Dunja Maroeslea W. M. Te Loo. "Association of the genetic variants in the nucleotide excision repair genes XPA and XPC with cisplatin-induced hearing loss in patients with osteosarcoma." Journal of Clinical Oncology 30, no. 15_suppl (2012): 10077. http://dx.doi.org/10.1200/jco.2012.30.15_suppl.10077.

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10077 Background: Cisplatin is a widely used and effective chemotherapeutic agent in the treatment of osteosarcoma. However, cisplatin-induced ototoxicity is a serious problem, affecting more than 60% of patients and compromising language and cognitive development. Unfortunately, individuals at risk to develop ototoxicity cannot be identified upfront. Genetic variants in genes involved in the metabolism of cisplatin may predispose to cisplatin-induced hearing loss and help to identify patients at risk. Methods: In a candidate gene pathway approach, we selected 224 SNPs in 30 candidate genes re
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Riza, Anca-Lelia, Camelia Alkhzouz, Marius Farcaș, et al. "Non-Syndromic Hearing Loss in a Romanian Population: Carrier Status and Frequent Variants in the GJB2 Gene." Genes 14, no. 1 (2022): 69. http://dx.doi.org/10.3390/genes14010069.

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The genetic causes of autosomal recessive nonsyndromic hearing loss (ARNSHL) are heterogeneous and highly ethnic-specific. We describe GJB2 (connexin 26) variants and carrier frequencies as part of our study and summarize previously reported ones for the Romanian population. In total, 284 unrelated children with bilateral congenital NSHL were enrolled between 2009 and 2018 in northwestern Romania. A tiered diagnostic approach was used: all subjects were tested for c.35delG, c.71G>A and deletions in GJB6 (connexin 30) using PCR-based methods. Furthermore, 124 cases undiagnosed at this stage
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Armstrong, Andrew J., Jing Li, Joshua Beaver, Rhonda Lynn Bitting, and Simon Gregory. "Genomic analysis of circulating tumor cells (CTCs) from men with metastatic castration resistant prostate cancer (mCRPC) in the context of enzalutamide therapy." Journal of Clinical Oncology 32, no. 4_suppl (2014): 65. http://dx.doi.org/10.1200/jco.2014.32.4_suppl.65.

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65 Background: Given the evolving treatments available in metastatic castration resistant prostate cancer (mCRPC), predictive biomarkers are desirable that maximize benefit and minimize harms and costs.The goal of this study was to determine the feasibility of DNA copy number and whole exome sequencing (WES) analysis of circulating tumor cells (CTCs) from men with mCRPC receiving enzalutamide. Methods: We collected CTCs from men with mCRPC in the context of enzalutamide therapy. CTCs were isolated from EDTA blood through red cell lysis, CD45 depletion, and flow sorting on EpCAM/CD45 expression
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O’Halloran, Katrina, Moiz Bootwalla, Daria Merkurjev, et al. "RARE-57. PEDIATRIC CHORDOMA: WHOLE EXOME SEQUENCING OF 11 PEDIATRIC CHORDOMA SAMPLES." Neuro-Oncology 22, Supplement_3 (2020): iii454. http://dx.doi.org/10.1093/neuonc/noaa222.767.

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Abstract Chordoma is a rare tumor and while SMARCB1 alterations have been observed in poorly differentiated chordomas, conventional chordomas are not well understood. We interrogated nuclear and mitochondrial genomes of 11 chordoma samples from 7 children. Frozen tumor tissue DNA was extracted and whole exome libraries generated using Agilent SureSelect Human All Exon V6 kit plus mtDNA genome capture kit. Libraries were sequenced using Illumina Nextseq 500. MuTect2, VarDict and LUBA variant callers were used with allele frequency cutoff 2%. Potential germline variants were filtered bioinformat
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Li, Qian, Yuxiao Zou, and Sentai Liao. "Mulberry Leaf Polyphenols and Fiber Induce Synergistic Antiobesity and Display a Modulation Effect on Gut Microbiota and Metabolites." Current Developments in Nutrition 4, Supplement_2 (2020): 1654. http://dx.doi.org/10.1093/cdn/nzaa063_052.

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Abstract Objectives In this study we compared the antiobesity effects of mulberry leaf powder, dietary fiber, polyphenols, and a fiber/polyphenols mixture.Combining intestinal community modulation and metabolite analysis, we investigated the antiobesity effects and mechanisms of mulberry leaf components, detecting the interaction between mulberry leaf dietary fiber and polyphenol. Methods An obesity model was established by feeding rats with a high-calorie diet. Rats were divided into seven groups: the obesity model control (MC), positive control (PC), mulberry leaf powder (MLP), mulberry leaf
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Toomey, Sinead, Aoife Carr, Jillian Rebecca Gunther, et al. "Clonal evolution in locally advanced rectal cancers in response to neoadjuvant chemoradiotherapy." Journal of Clinical Oncology 35, no. 15_suppl (2017): 3616. http://dx.doi.org/10.1200/jco.2017.35.15_suppl.3616.

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3616 Background: Locally advanced rectal cancer, LARC (T3/4 and/or N+) is currently treated with neoadjuvant chemoradiotherapy (NACRT), however clinicopathological response is variable. Monitoring clonal evolution in response to NACRT may identify mutations driving therapeutic resistance or tumor growth after treatment. Methods: Fresh-frozen pre- and post-NACRT tumor and matched normal tissue from LARC patients were stratified into good (RCPath A), intermediate (RCPath B) and poor (RCPath C) responders. Following histological review, targeted exome capture was performed using an Agilent SureSe
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Dissertations / Theses on the topic "Hearing Loss,illumina,Agilent"

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Licastro, Danilo. "Positive selection of hearing loss candidate genes,based on multiple microarray platforms experiments and data mining." Doctoral thesis, Università degli studi di Trieste, 2008. http://hdl.handle.net/10077/2645.

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2006/2007<br>Secondo le stime del World Health Organization, le perdite uditive colpiscono circa 278 milioni di persone in tutto il mondo. Approssimativamente 1 bambino ogni 100, nasce con problemi d’udito. Nonostante l’identificazione negli ultimi 10 anni di più di 100 loci genetici associati a fenotipi di perdita uditiva, non tutti i corrispettivi geni causativi sono stati identificati. Normalmente utilizzando un approccio sperimentale di linkage tradizionale non è sempre possibile identificare un intervallo genomico sufficientemente corto da essere analizzato per la ricerca di mutazioni.
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