Výsledky vyhľadávania - "array-based comparative genomic hybridization"

Rare Copy Number Variants in Array-Based Comparative Genomic Hybridization in Early-Onset Skeletal Fragility Autor Costantini, Alice, Skarp, Sini, Kämpe, Anders, Mäkitie, Riikka E., Pettersson, Maria, Männikkö, Minna, Jiao, Hong, Taylan, Fulya, Lindstrand, Anna, Mäkitie, Outi

“… In search for novel variants and novel candidate loci, we screened a cohort of 70 young subjects with mild to severe skeletal fragility for rare copy-number variants (CNVs…”
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Array-based comparative genomic hybridization analysis of recurrent chromosome 15q rearrangements Autor Sahoo, Trilochan, Shaw, Chad A., Young, Andrew S., Whitehouse, Nathan L., Schroer, Richard J., Stevenson, Roger E., Beaudet, Arthur L.

“…), and Angelman syndrome (AS). This region is subject to genomic imprinting and characterized by complex combinations of low copy repeat elements. Prader…”
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Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects Autor Sagoo, Gurdeep S, Butterworth, Adam S, Sanderson, Simon, Shaw-Smith, Charles, Higgins, Julian P T, Burton, Hilary

“…Array-based comparative genomic hybridization is being increasingly used in patients with learning disability (mental retardation…”
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Effects of Copy Number Variations on Developmental Aspects of Children With Delayed Development Autor Park, Kee-Boem, Nam, Kyung Eun, Cho, Ah-Ra, Jang, Woori, Kim, Myungshin, Park, Joo Hyun

“…) and children without CNV (CNV(-) group, n=37). Of these subjects, the average age was 35.1 months (mean age, 35.1±24.2 months…”
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Characterization of whole genome amplified (WGA) DNA for use in genotyping assay development Autor Han, Tao, Chang, Ching-Wei, Kwekel, Joshua C, Chen, Ying, Ge, Yun, Martinez-Murillo, Francisco, Roscoe, Donna, Težak, Živana, Philip, Reena, Bijwaard, Karen, Fuscoe, James C

“… Results To assess amplification uniformity, we used array-based comparative genomic hybridization (aCGH…”
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Gene copy number variations in Asian patients with congenital bilateral absence of the vas deferens Autor Lee, Chia-Huei, Wu, Chien-Chih, Wu, Yi-No, Chiang, Han-Sun

“… We investigate genomic copy number variations (CNVs) in a patient cohort of Taiwan. Genome-wide screening for genetic CNVs was conducted on eight individuals with CBAVD using array-based comparative genomic hybridization…”
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Array-based comparative genomic hybridization in phylogenetics and its application for discovery of rapidly evolving genes: A critical analysis Autor Gilbert, Luz Beatriz

“…Comparative Genomic Hybridization (CGH) with DNA microarrays has many biological applications including surveys of copy number changes and functional genomics…”
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High resolution detection of chromosome 15q11–q13 abnormalities by array-based comparative genomic hybridization Autor Wang, Nicholas Jen

“… The presence of these elements creates a region subject to numerous forms of rearrangements including deletions, duplications, inversions and supernumerary chromosomes…”
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Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization Autor Striano, Pasquale, Coppola, Antonietta, Paravidino, Roberta, Malacarne, Michela, Gimelli, Stefania, Robbiano, Angela, Traverso, Monica, Pezzella, Marianna, Belcastro, Vincenzo, Bianchi, Amedeo, Elia, Maurizio, Falace, Antonio, Gazzerro, Elisabetta, Ferlazzo, Edoardo, Freri, Elena, Galasso, Roberta, Gobbi, Giuseppe, Molinatto, Cristina, Cavani, Simona, Zuffardi, Orsetta, Striano, Salvatore, Ferrero, Giovanni Battista, Silengo, Margherita, Cavaliere, Maria Luigia, Benelli, Matteo, Magi, Alberto, Piccione, Maria, Dagna Bricarelli, Franca, Coviello, Domenico A, Fichera, Marco, Minetti, Carlo, Zara, Federico

“… but no epilepsy, and 246 healthy control subjects were screened by microarray-based comparative genomic hybridization…”
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Molecular features of hepatosplenic T-cell lymphoma unravels potential novel therapeutic targets Autor Travert, Marion, Huang, Yenlin, de Leval, Laurence, Martin-Garcia, Nadine, Delfau-Larue, Marie-Helene, Berger, Françoise, Bosq, Jacques, Brière, Josette, Soulier, Jean, Macintyre, Elizabeth, Marafioti, Teresa, de Reyniès, Aurélien, Gaulard, Philippe

“…) and the DERL2 HSTL cell line were subjected to combined gene-expression profiling and array-based comparative genomic hybridization…”
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Angelman Syndrome due to familial translocation: unexpected additional results characterized by Microarray-based Comparative Genomic Hybridization Autor Yokoyama-Rebollar, Emiy, Ruiz-Herrera, Adriana, Lieberman-Hernández, Esther, Del Castillo-Ruiz, Victoria, Sánchez-Sandoval, Silvia, Ávila-Flores, Silvia M, Castrillo, José Luis

“…) involving the 15q11.2 region. The available family members were studied using banding and molecular cytogenetic techniques, including Microarray-based Comparative Genomic Hybridization, which revealed additional unexpected results…”
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Gene expression profiling identifies emerging oncogenic pathways operating in extranodal NK/T-cell lymphoma, nasal type Autor Huang, Yenlin, de Reyniès, Aurélien, de Leval, Laurence, Ghazi, Bouchra, Martin-Garcia, Nadine, Travert, Marion, Bosq, Jacques, Brière, Josette, Petit, Barbara, Thomas, Emilie, Coppo, Paul, Marafioti, Teresa, Emile, Jean-François, Delfau-Larue, Marie-Hélène, Schmitt, Christian, Gaulard, Philippe

“…Biopsies and cell lines of natural killer/T-cell lymphoma, nasal type (NKTCL) were subject to combined gene expression profiling and array-based comparative genomic hybridization analyses…”
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Polygenic risk scores in schizophrenia with clinically significant copy number variants Autor Taniguchi, Satoru, Ninomiya, Kohei, Kushima, Itaru, Saito, Takeo, Shimasaki, Ayu, Sakusabe, Takaya, Momozawa, Yukihide, Kubo, Michiaki, Kamatani, Yoichiro, Ozaki, Norio, Ikeda, Masashi, Iwata, Nakao

“…‐based comparative genomic hybridization and single nucleotide polymorphisms chips, and comparisons were made between cases and HC, or between subjects with and without…”
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A novel PRDM13 gene duplication causing congenital North Carolina macular dystrophy phenotype in a Mexican family Autor Chacon-Camacho, Oscar Francisco, Flores-Lagunes, Luis Leonardo, Small, Kent W, Udar, Nitin, Udar, Uma, Diaz, Amber, Arce-González, Rocío, Molina-Garay, Carolina, Martínez-Aguilar, Alan, Montes-Almanza, Luis, Garcia-Martinez, Froylan, Gudiño, Adriana, Matsui-Serrano, Rodrigo, Fest-Parra, Scarlett, Alaez-Verson, Carmen, Shaya, Fadi, Zenteno, Juan Carlos

“… Seven affected subjects from a Mexican family underwent a complete ophthalmic assessment that included dilated indirect ophthalmoscopy, fundus photography, optical coherence tomography (OCT…”
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Genotype and phenotype correlation in 103 individuals with 2q37 deletion syndrome reveals incomplete penetrance and supports HDAC4 as the primary genetic contributor Autor Le, Trang N., Williams, Stephen R., Alaimo, Joseph T., Elsea, Sarah H.

“…The 2q37 deletion syndrome, also described in the literature as brachydactyly‐mental retardation syndrome (MIM 600430), is caused by deletion or…”
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Y-chromosome genes associated with sertoli cell-only syndrome identified by array comparative genome hybridization Autor Lan, Kuo-Chung, Wang, Hung-Jen, Wang, Tzu-Jou, Lin, Hsin-Jung, Chang, Yung-Chiao, Kang, Hong-Yo

“… This study uses Y-chromosome array-based comparative genomic hybridization (aCGH) to examine a population of males with a uniform sertoli cell-only syndrome (SCOS…”
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Comparative genomic hybridization on microarray (a-CGH) in olfactory neuroblastoma: Analysis of ten cases and review of the literature Autor Valli, Roberto, De Bernardi, Francesca, Frattini, Annalisa, Volpi, Luca, Bignami, Maurizio, Facchetti, Fabio, Pasquali, Francesco, Castelnuovo, Paolo, Maserati, Emanuela

“… We report the results of an array‐based comparative genomic hybridization analysis (a‐CGH) obtained on 11 samples from 10 subjects…”
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Cardiovascular findings in duplication 17p11.2 syndrome Autor Jefferies, John L., Pignatelli, Ricardo H., Martinez, Hugo R., Robbins-Furman, Patricia J., Liu, Pengfei, Gu, Wenli, Lupski, James R., Potocki, Lorraine

“…: Twenty-five subjects with 17p11.2 duplication identified by chromosome analysis and/or array-based comparative genomic hybridization were enrolled in a multidisciplinary protocol…”
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Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR‐DSCR) on human chromosome 21 Autor Pelleri, Maria Chiara, Cicchini, Elena, Petersen, Michael B., Tranebjærg, Lisbeth, Mattina, Teresa, Magini, Pamela, Antonaros, Francesca, Caracausi, Maria, Vitale, Lorenza, Locatelli, Chiara, Seri, Marco, Strippoli, Pierluigi, Piovesan, Allison, Cocchi, Guido

“…‐kb highly restricted DS critical region (HR‐DSCR) as the minimal region whose duplication is shared by all PT21 subjects diagnosed with DS…”
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Efficient CNV breakpoint analysis reveals unexpected structural complexity and correlation of dosage-sensitive genes with clinical severity in genomic disorders Autor Zhang, Ling, Wang, Jingmin, Zhang, Cheng, Li, Dongxiao, Carvalho, Claudia M B, Ji, Haoran, Xiao, Jianqiu, Wu, Ye, Zhou, Weichen, Wang, Hongyan, Jin, Li, Luo, Yang, Wu, Xiru, Lupski, James R, Zhang, Feng, Jiang, Yuwu

“…). The CNVs can be identified by array-based comparative genomic hybridization (aCGH), the most commonly used technology for molecular diagnostics of genomic disorders…”
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