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https://www.readbyqxmd.com/read/29141989/analysis-of-copy-number-variants-on-chromosome-21-in-down-syndrome-associated-congenital-heart-defects
#1
Benjamin L Rambo-Martin, Jennifer G Mulle, David J Cutler, Lora J H Bean, Tracie C Rosser, Kenneth J Dooley, Clifford Cua, George Capone, Cheryl L Maslen, Roger H Reeves, Stephanie L Sherman, Michael E Zwick
One in five people with Down syndrome (DS) are born with an atrioventricular septal defect (AVSD), an incidence 2,000 times higher than in the euploid population. The genetic loci that contribute to this risk are poorly understood. In this study, we tested two hypotheses: 1) individuals with DS carrying chromosome 21 copy number variants (CNVs) that interrupt exons may be protected from AVSD, because these CNVs return AVSD susceptibility loci back to disomy, and 2) individuals with DS carrying chromosome 21 genes spanned by microduplications are at greater risk for AVSD because these microduplications boost the dosage of AVSD susceptibility loci beyond a tolerable threshold...
November 15, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/29131203/computer-generated-hologram-using-binary-phase-with-an-aperture
#2
Wen Chen
Computer-generated holograms (CGHs) have attracted more and more attention in some application fields, such as 3D displays, optical security, and beam shaping. In this paper, a strategy is presented for optical information verification based on CGH using binary phase (1 bit) with an aperture. The input is encoded into the cascaded phase-only masks based on CGH via iterative phase retrieval, and one extracted phase mask is binarized in which one part is selected according to an aperture and further embedded into a random binary-phase host mask...
November 10, 2017: Applied Optics
https://www.readbyqxmd.com/read/29130599/interstitial-microdeletion-of-17q11-2-is-associated-with-hypotonia-fatigue-intellectual-disability-and-a-subtle-facial-phenotype-in-three-unrelated-patients
#3
Deborah Osio, Julia Rankin, Hannele Koillinen, Adele Reynolds, Hilde Van Esch
Over the past decade chromosomal microarray analysis (array CGH) has allowed the discovery of many novel disease-causing recurrent microdeletion and microduplication syndromes. Here we present three unrelated patients (2F; 1M) from three different countries, with developmental delay, intellectual disability, hypotonia, fatigue, and highly similar dysmorphic facial features. Shared facial features are a broad and wide forehead, similar shape of the eyes with long palpebral fissures, a bulbous tip of the nose and thick lips...
November 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29124392/tracking-the-evolutionary-pathway-of-sex-chromosomes-among-fishes-characterizing-the-unique-xx-xy1y2-system-in-hoplias-malabaricus-teleostei-characiformes
#4
Ezequiel Aguiar de Oliveira, Alexandr Sember, Luiz Antonio Carlos Bertollo, Cassia Fernanda Yano, Tariq Ezaz, Orlando Moreira-Filho, Terumi Hatanaka, Vladimir Trifonov, Thomas Liehr, Ahmed Basheer Hamid Al-Rikabi, Petr Ráb, Hugmar Pains, Marcelo de Bello Cioffi
The Neotropical fish, Hoplias malabaricus, is one of the most cytogenetically studied fish taxon with seven distinct karyomorphs (A-G) comprising varying degrees of sex chromosome differentiation, ranging from homomorphic to highly differentiated simple and multiple sex chromosomes. Therefore, this fish offers a unique opportunity to track evolutionary mechanisms standing behind the sex chromosome evolution and differentiation. Here, we focused on a high-resolution cytogenetic characterization of the unique XX/XY1Y2 multiple sex chromosome system found in one of its karyomorphs (G)...
November 9, 2017: Chromosoma
https://www.readbyqxmd.com/read/29114470/histopathologic-and-molecular-approach-to-staging-of-multiple-lung-nodules
#5
REVIEW
Frank Schneider, Sanja Dacic
Distinguishing multiple primary lung cancers from intrapulmonary metastases in patients with synchronous multifocal lung adenocarcinomas can be challenging. The most recent 8th edition American Joint Committee on Cancer staging manual (AJCC staging manual) distinguishes four disease patterns in patients with multiple lung nodules: (I) two or more distinct and histologically different masses (considered unrelated and staged as individual cancers); (II) multiple ground-glass or part-solid nodules, histologically of with lepidic growth pattern (considered separate tumors, T staged based on highest T stage lesion); (III) patchy areas of ground-glass and consolidations, histologically often invasive mucinous adenocarcinomas (considered single tumor with diffuse "pneumonic-type" involvement); and (IV) separate nodules with the same histologic features based on comprehensive histologic subtyping (considered intrapulmonary metastases)...
October 2017: Translational Lung Cancer Research
https://www.readbyqxmd.com/read/29093661/syndromic-craniosynostosis-can-define-new-candidate-genes-for-suture-development-or-result-from-the-non-specifc-effects-of-pleiotropic-genes-rasopathies-and-chromatinopathies-as-examples
#6
REVIEW
Marcella Zollino, Serena Lattante, Daniela Orteschi, Silvia Frangella, Paolo N Doronzio, Ilaria Contaldo, Eugenio Mercuri, Giuseppe Marangi
Craniosynostosis is a heterogeneous condition caused by the premature fusion of cranial sutures, occurring mostly as an isolated anomaly. Pathogenesis of non-syndromic forms of craniosynostosis is largely unknown. In about 15-30% of cases craniosynostosis occurs in association with other physical anomalies and it is referred to as syndromic craniosynostosis. Syndromic forms of craniosynostosis arise from mutations in genes belonging to the Fibroblast Growth Factor Receptor (FGFR) family and the interconnected molecular pathways in most cases...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/29090230/genetic-screening-of-iranian-patients-with-46-xy-disorders-of-sex-development
#7
Azadeh Shojaei, Reza Ebrahimzadeh-Vesal, Ali Ahani, Maryam Razzaghy-Azar, Golnaz Khakpour, Farideh Ghazi, Javad Tavakkoly-Bazzaz
BACKGROUND: Disorders of sex development (DSDs) belong to uncommon pathologies and result from abnormalities during gonadal determination and differentiation. Various gene mutations involved in gonadal determination and differentiation have been associated with gonadal dysgenesis. Despite advances in exploration of genes and mechanisms involved in sex disorders, most children with severe 46,XY DSDs have no definitive etiological diagnoses; therefore, the possibility that other genes or loci might play important roles in these disorders needs to be explored...
October 2017: Reports of Biochemistry & Molecular Biology
https://www.readbyqxmd.com/read/29090019/molecular-characterization-and-evaluation-of-complex-rearrangements-in-a-case-of-ring-chromosome-15
#8
Stuti Tewari, Naznin Lubna, Raju Shah, Ahmed B H Al-Rikabi, Krati Shah, Jayesh Sheth, Frenny Sheth
BACKGROUND: Ring chromosome 15 is a rare genetic entity. Only a few cases have been reported with characterization using molecular techniques. The clinical presentation is quite variable, as a result of differences in the breakpoints, haploinsufficiency of genes involved in deleted segment/s, level of mosaicism and ring instability resulting in a variability of rearrangement of genetic material. CASE PRESENTATION: The proband, a 2 months old boy, presented with small head size and facial dysmorphism...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29080333/aneurysmal-bone-cysts-and-pathologic-fracture-associated-with-supernumerary-ring-chromosome-6-in-two-unrelated-patients
#9
Lauren M Hurd, Mihir M Thacker, Ericka Okenfuss, Angela L Duker, Yang Lou, Mary P Harty, Katrina Conard, Jane B Lian, Michael B Bober
Small supernumerary ring chromosome 6 (sSRC[6]) is a rare chromosomal abnormality characterized by a broad clinical phenotype. The spectrum of this disorder can range from phenotypically normal to severe developmental delay and congenital anomalies. We describe two unrelated patients with small SRCs derived from chromosome 6 with a novel bone phenotype. Both patients presented with a complex bone disorder characterized by severe osteopenia, pathologic fractures, and cyst-like lesions within the bone. Imaging revealed decreased bone mineral density, mutiple multiloculated cysts and cortical thinning...
December 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29069978/assessment-of-de-novo-copy-number-variations-in-italian-patients-with-schizophrenia-detection-of-putative-mutations-involving-regulatory-enhancer-elements
#10
Giulio Piluso, Palmiero Monteleone, Silvana Galderisi, Teresa Giugliano, Alessandro Bertolino, Paola Rocca, Alessandro Rossi, Armida Mucci, Eugenio Aguglia, Ileana Andriola, Antonello Bellomo, Anna Comparelli, Francesco Gambi, Andrea Fagiolini, Carlo Marchesi, Rita Roncone, Emilio Sacchetti, Paolo Santonastaso, Alberto Siracusano, Paolo Stratta, Alfonso Tortorella, Luca Steardo, Paola Bucci, Vincenzo Nigro, Mario Maj
Objectives Variants appearing de novo in genes regulating key neurodevelopmental processes and/or in noncoding cis-regulatory elements (CREs), as enhancers, may increase the risk for schizophrenia. However, CREs involvement in schizophrenia needs to be explored more deeply. Methods We investigated de novo copy number variations (CNVs) in the whole genomic DNA obtained from 46 family trios of schizophrenia probands by using the Enhancer Chip, a customized array CGH able to investigate the whole genome with a 300Kb resolution, specific disease loci at a tenfold higher resolution, and that was highly enriched in probes in more than 1...
October 26, 2017: World Journal of Biological Psychiatry
https://www.readbyqxmd.com/read/29068465/array-cgh-analysis-in-patients-with-m%C3%A3-llerian-fusion-anomalies
#11
S Ledig, A C Tewes, J Hucke, T Römer, K Kapczuk, C Schippert, P Hillemanns, P Wieacker
Fusion anomalies of the Müllerian ducts are associated with an increased risk for miscarriage and premature labor. In most cases polygenic-multifactorial inheritance can be assumed but autosomal-dominant inheritance with reduced penetrance and variable manifestation should be considered. We performed array-CGH (comparative genomic hybridization) analysis in a cohort of 103 patients with Müllerian fusion anomalies. In eight patients we detected microdeletions and microduplications in chromosomal regions 17q12, 22q11...
October 25, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/29061165/sustained-endocrine-profiles-of-a-girl-with-wagr-syndrome
#12
Yui Takada, Yasunari Sakai, Yuki Matsushita, Kazuhiro Ohkubo, Yuhki Koga, Satoshi Akamine, Michiko Torio, Yoshito Ishizaki, Masafumi Sanefuji, Hiroyuki Torisu, Chad A Shaw, Masayo Kagami, Toshiro Hara, Shouichi Ohga
BACKGROUND: Wilms tumor, aniridia, genitourinary anomalies and mental retardation (WAGR) syndrome is a rare genetic disorder caused by heterozygous deletions of WT1 and PAX6 at chromosome 11p13. Deletion of BDNF is known eto be associated with hyperphagia and obesity in both humans and animal models; however, neuroendocrine and epigenetic profiles of individuals with WAGR syndrome remain to be determined. CASE PRESENTATION: We report a 5-year-old girl with the typical phenotype of WAGR syndrome...
October 23, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29049316/genomic-comparison-of-early-passage-conditionally-reprogrammed-breast-cancer-cells-to-their-corresponding-primary-tumors
#13
Akanksha S Mahajan, Bruna M Sugita, Anju N Duttargi, Francisco Saenz, Ewa Krawczyk, Justine N McCutcheon, Aline S Fonseca, Bhaskar Kallakury, Paula Pohlmann, Yuriy Gusev, Luciane R Cavalli
Conditionally reprogrammed cells (CRCs) are epithelial cells that are directly isolated from patients' specimens and propagated in vitro with feeder cells and a Rho kinase inhibitor. A number of these cells have been generated from biopsies of breast cancer patients, including ductal carcinoma in situ and invasive carcinomas. The characterization of their genomic signatures is essential to determine their ability to reflect the natural biology of their tumors of origin. In this study, we performed the genomic characterization of six newly established invasive breast cancer CRC cultures in comparison to the original patients' primary breast tumors (PBT) from which they derived...
2017: PloS One
https://www.readbyqxmd.com/read/29042871/application-of-array-comparative-genomic-hybridization-in-korean-children-under-6-years-old-with-global-developmental-delay
#14
Kyung Yeon Lee, Eunsim Shin
PURPOSE: Recent advancements in molecular techniques have greatly contributed to the discovery of genetic causes of unexplained developmental delay. Here, we describe the results of array comparative genomic hybridization (CGH) and the clinical features of 27 patients with global developmental delay. METHODS: We included 27 children who fulfilled the following criteria: Korean children under 6 years with global developmental delay; children who had at least one or more physical or neurological problem other than global developmental delay; and patients in whom both array CGH and G-banded karyotyping tests were performed...
September 2017: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/29041735/analysis-of-spurious-diffraction-orders-of-computer-generated-hologram-in-symmetric-aspheric-metrology
#15
Yiwei He, Xi Hou, Fan Wu, Xinxue Ma, Rongguang Liang
Computer-generated hologram (CGH) has been widely used as a wavefront compensator in symmetric aspheric metrology. As a diffractive element, it generates different diffraction orders, but only the 1st-order diffraction is used to test aspheric surface. The light from spurious diffraction orders (SDO) will produce many high-frequency fringes in interferogram and reduce measurement accuracy. In this paper, we regard the CGH null system as an imaging system and develop an aberration model in Seidel formalism to analyze the SDO...
August 21, 2017: Optics Express
https://www.readbyqxmd.com/read/29040905/bilateral-methachronous-testicular-germ-cell-tumor-and-testicular-microlithiasis-in-a-child-genetic-analysis-and-insights-a-case-report
#16
N Boudaoud, G Loron, M Pons, E Landais, S Kozal, M Doco-Fenzy, M L Poli-Merol
OBJECTIVES: To report our experience with a case of a child with bilateral testicular micro-lithiasis (TML) who developed bilateral metachronous testicular germ cell tumor (TGCT) and determine the most appropriate follow-up and care management in children with testicular micro calcifications in regards to the theoretical risk of testicular cancer. CASE REPORT: A 12 year-old boy was diagnosed with TGCT and TML. Ten years after complete remission, he presented with a recurrence on the contralateral testis...
October 14, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/29037874/preparation-and-optimization-of-chitosan-gelatin-films-for-sustained-delivery-of-lupeol-for-wound-healing
#17
Satish Patel, Shikha Srivastava, Manju Rawat Singh, Deependra Singh
Lupeol entrapped chitosan-gelatin hydrogel (LCGH) films were prepared by solution cast method by blending chitosan and gelatin solution using glycerol as plasticizer, followed by crosslinking with glutaraldehyde. LCGH films were characterized by scanning electron microscopy (SEM), Fourier transform infrared spectroscopy (FTIR), differential scanning calorimetry (DSC), equilibrium water content (EWC), Water vapor transmission rate (WVTR) and in vitro release studies. SEM confirmed presence of the uniform porous network of both blank and LCGH films...
October 14, 2017: International Journal of Biological Macromolecules
https://www.readbyqxmd.com/read/29032163/massively-parallel-sequencing-on-human-cleavage-stage-embryos-to-detect-chromosomal-abnormality
#18
Zhi Zhou, Yanlin Ma, Qi Li, Yu Zhang, Yuanhua Huang, Zhihua Tu, Ning Ma, Minghong Li, Jun Wang, Jian Li, Weiying Lu
PURPOSE: Next-generation sequencing technology like MPS has recently been introduced to perform comprehensive chromosome screening on human trophectoderm samples for preimplantation embryo assessment. However, the potential of MPS in chromosome analysis of single cell from blastomeres has not yet been investigated. METHODS: In this study, 12 couples underwent MPS analysis, including 9 balanced translocation carriers and 3 carriers of numerical chromosomal abnormalities...
October 12, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29030252/sub-clonal-analysis-of-the-murine-c1498-acute-myeloid-leukaemia-cell-line-reveals-genomic-and-immunogenic-diversity
#19
Virginie Driss, Frédéric Leprêtre, Isabelle Briche, Alexia Mopin, Céline Villenet, Martin Figeac, Bruno Quesnel, Carine Brinster
BACKGROUND: In acute myeloid leukaemia (AML)-affected patients, the presence of heterogeneous sub-clones at diagnosis has been shown to be responsible for minimal residual disease and relapses. The role played by the immune system in this leukaemic sub-clonal hierarchy and maintenance remains unknown. As leukaemic sub-clone immunogenicity could not be evaluated in human AML xenograft models, we assessed the sub-clonal diversity of the murine C1498 AML cell line and the immunogenicity of its sub-clones in immune-competent syngeneic mice...
October 10, 2017: Immunology Letters
https://www.readbyqxmd.com/read/29027068/array-cgh-analysis-in-a-cohort-of-phenotypically-well-characterized-individuals-with-essential-autism-spectrum-disorders
#20
Eleonora Napoli, Serena Russo, Laura Casula, Viola Alesi, Filomena Alessandra Amendola, Adriano Angioni, Antonio Novelli, Giovanni Valeri, Deny Menghini, Stefano Vicari
Copy-number variants (CNVs) are associated with susceptibility to autism spectrum disorder (ASD). To detect the presence of CNVs, we conducted an array-comparative genomic hybridization (array-CGH) analysis in 133 children with "essential" ASD phenotype. Genetic analyses documented that 12 children had causative CNVs (C-CNVs), 29 children had non-causative CNVs (NC-CNVs) and 92 children without CNVs (W-CNVs). Results on clinical evaluation showed no differences in cognitive abilities among the three groups, and a higher number of ASD symptoms and of non-verbal children in the C-CNVs group compared to the W-CNVs and NC-CNVs groups...
October 12, 2017: Journal of Autism and Developmental Disorders
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