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https://www.readbyqxmd.com/read/28507561/deletion-extents-are-not-the-cause-of-clinical-variability-in-22q11-2-deletion-syndrome-does-the-interaction-between-dgcr8-and-mirna-cnvs-play-a-major-role
#1
Veronica Bertini, Alessia Azzarà, Annalisa Legitimo, Roberta Milone, Roberta Battini, Rita Consolini, Angelo Valetto
In humans, the most common genomic disorder is the hemizygous deletion of the chromosome 22q11.2 region, that results in the "22q11.2 deletion syndrome" (22q11.2DS). A peculiarity of 22q11.2DS is its great phenotypic variability that makes this pathology a classic example of a syndrome with variable expressivity and incomplete penetrance. The reasons for this variability have not been elucidated yet, and the molecular substrates underlying the different clinical features of 22q11.2DS are still debated. A cohort of 21 patients has been analyzed by array CGH in order to detect some of the genetic differences that may influence this variability...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/28498391/hypospadias-in-a-male-infant-with-an-unusual-mosaic-45-x-46-x-psu-idic-y-p11-32-46-xy-and-haploinsufficiency-of-shox-a-case-report
#2
Yan-Mei Si, Yuan Dong, Wei Wang, Ke-Yan Qi, Xin Wang
A male newborn presented with hypospadias and differential testicular volumes. Short femur length was detected four times during pregnancy, at 23, 31, 32 and 33 weeks, by ultrasonographic examination. Chromosome analysis was performed on peripheral lymphocytes obtained from the infant and his parents. Fluorescent in situ hybridization (FISH), using sex determining region Y (SRY)/DXZ1 and DYZ3 probes, was performed to verify the deletion of the SRY gene (located on Yp11.3 region) and the activation of Y chromosomal centromeres...
May 10, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28494439/centromere-repositioning-in-cattle-bos-taurus-chromosome-17
#3
Lisa De Lorenzi, Alessandra Iannuzzi, Elena Rossi, Stefania Bonacina, Pietro Parma
Eukaryotic organisms have developed a structure, called centromere, able to preserve the integrity of the genome during cell division. A young bull from the Marchigiana breed, with a normal external phenotype, underwent routine cytogenetic analysis to enter the reproduction center. All metaphases analyzed showed an unusual biarmed chromosome of medium size despite a diploid set of chromosomes (2n = 60,XY). FISH analysis excluded a pericentric inversion or a reciprocal translocation, but highlighted a repositioning of the centromere in BTA17...
May 12, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28489313/in-utero-seizures-revealing-dentato-olivary-dysplasia-caused-by-scn2a-mutation
#4
Fanny Sauvestre, Sébastien Moutton, Catherine Badens, Bernard Broussin, Dominique Carles, Nada Houcinat, Caroline Lacoste, Florent Marguet, Christophe Pecheux, Laurent Villard, Fanny Pelluard, Annie Laquerrière, Gwenaëlle André
Most early-onset epileptic encephalopathies (EOEE) are caused by genetic defects. In the past, mutations, especially in genes encoding sodium channels, have been identified using linkage studies, array-CGH and more recently next-generation sequencing (NGS) [1]. Mutations in SCN2A gene have been identified in a wide variety of early-onset epileptic syndromes including benign familial neonatal infantile seizures (BFNIS) [2] and more severe forms leading to encephalopathy such as Ohtahara or West syndromes [3], epilepsy of infancy with migrating focal seizures (EIMFS) [4] and autism spectrum disorders [5]...
May 10, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28488172/clear-cell-renal-cell-carcinoma-a-comparative-study-of-histological-and-chromosomal-characteristics-between-primary-tumors-and-their-corresponding-metastases
#5
Julien Dagher, Solène-Florence Kammerer-Jacquet, Frédéric Dugay, Marion Beaumont, Alexandra Lespagnol, Laurence Cornevin, Grégory Verhoest, Karim Bensalah, Nathalie Rioux-Leclercq, Marc-Antoine Belaud-Rotureau
Clear cell renal cell carcinoma (ccRCC) has a poor prognosis with a 50% risk of metastases. Little is known about the phenotypic and molecular profiles of metastases regarding their corresponding primary tumors. This study aimed to screen phenotypic and genotypic differences between metastases and their corresponding primary tumors. We selected four cases with available frozen material. The histological, immunohistochemical (VEGFA, CD31, SMA, Ki67, p53, PAR-3), FISH (VHL gene), next-generation sequencing (VHL and c-MET genes), multiplex ligation-dependent probe amplification, and array-(comparative genomic hybridization) CGH analyses were realized...
May 10, 2017: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/28488140/characterization-of-a-new-brca1-rearrangement-in-an-italian-woman-with-hereditary-breast-and-ovarian-cancer-syndrome
#6
Paola Concolino, Roberta Rizza, Karl Hackmann, Ida Paris, Angelo Minucci, Elisa De Paolis, Giovanni Scambia, Cecilia Zuppi, Evelin Schrock, Ettore Capoluongo
BACKGROUND: We report a novel BRCA1 LGR, involving the complete duplication of exon 3, in an Italian patient with a strong family history of breast and ovarian cancer. Our purpose is to provide an effective characterization of this LGR using a combination of different methods able to establish the exact breakpoints of the duplication. METHODS: MAQ assay was used as primary screening method in LGRs detection. Array CGH, RT-PCR, and Long-PCR were used for a careful characterization of rearrangement and breakpoint regions...
May 9, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28484518/importance-of-biomarkers-in-glioblastomas-patients-receiving-local-bcnu-wafer-chemotherapy
#7
Steffi Urbschat, Christoph Sippl, Jana Engelhardt, Kai Kammers, Joachim Oertel, Ralf Ketter
BACKGROUND: To assess the influence of molecular markers with potential prognostic value to groups of patients with newly diagnosed glioblastoma patients were examined: group A with 36 patients (surgical resection plus standard combined chemoradiotherapy) and group B with 36 patients (surgical resection, standard combined chemoradiotherapy plus carmustine wafer implantation). Our aim was to determine chromosomal alterations, methylation status of MGMT, p15, and p16 (CDKN2A) in order to analyse the influence on patient survival time as well as radio- and chemotherapy responses...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28481040/optical-coherence-tomography-morphology-and-evolution-in-cblc-disease-related-maculopathy-in-a-case-series-of-very-young-patients
#8
Giacomo M Bacci, Maria A Donati, Elisabetta Pasquini, Francis Munier, Catia Cavicchi, Amelia Morrone, Andrea Sodi, Vittoria Murro, Nuria Garcia Segarra, Claudio Defilippi, Leonardo Bussolin, Roberto Caputo
PURPOSE: To describe the retinal structure of a group of patients affected by methylmalonic aciduria with homocystinuria cblC type, caused by mutations in the MMACHC gene, using spectral domain optical coherence tomography (SD-OCT). METHODS: Young patients (n = 11, age 0-74 months) with cblC disease, detected by newborn screening or clinically diagnosed within 40 days of life, underwent molecular analysis and complete ophthalmic examination, including fundus photography and SD-OCT...
May 8, 2017: Acta Ophthalmologica
https://www.readbyqxmd.com/read/28473268/the-congenital-great-toe-malformation-of-fibrodysplasia-ossificans-progressiva-a-close-call
#9
O Will Towler, Eileen M Shore, Meiqi Xu, Abbey Bamford, Ilse Anderson, Robert J Pignolo, Frederick S Kaplan
BACKGROUND: Congenital bilateral hallux valgus with associated absence or fusion of the interphalangeal joint is a classic diagnostic feature of fibrodysplasia ossificans progressiva (FOP), a human genetic disease of extra-skeletal bone formation caused in nearly all cases by a gain-of-function mutation in Activin A Receptor I/Activin-like Kinase 2 (ACVR1/ALK2), which encodes a bone morphogenetic protein (BMP) Type 1 receptor. This toe malformation prompts the suspicion of FOP even before the appearance of extra-skeletal bone...
May 1, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28466039/characterization-of-genomic-changes-in-the-cervical-pre-cancerous-lesions-and-tumors-induced-by-different-types-of-human-papillomaviruses
#10
Petar Grozdanov, Savina Hadjidekova, Ivanka Dimova, Ivanka Nikolova, Draga Toncheva, Gancho Ganchev, Victor Zlatkov, Angel S Galabov
Cervical carcinoma is the second most common malignancy among women in both incidence and mortality. Although much is known about the etiology and treatment of cervical cancer, the role of genetic alterations in the multistep pathway of cervical tumorigenesis is largely unknown. The aim of this study was to characterize the genomic changes in the cervical pre-cancerous lesions and tumors, induced by different types of human papillomaviruses. In this research was used the BlueGnome CytoChip oligo 2 × 105 K microarray for whole-genome oligo-array CGH...
September 2016: Virusdisease
https://www.readbyqxmd.com/read/28463308/computer-generated-hologram-with-occlusion-effect-using-layer-based-processing
#11
Hao Zhang, Liangcai Cao, Guofan Jin
We propose a layer-based algorithm with single-viewpoint rendering geometry to calculate a three-dimensional (3D) computer-generated hologram (CGH) with occlusion effect. The 3D scene is sliced into multiple parallel layers according to the depth information. Slab-based orthographic projection is implemented to generate shading information for each layer, which renders hidden primitives for occlusion processing. The layer-based angular spectrum with silhouette mask culling is used to calculate the wave propagations from the layers to the CGH plane without paraxial approximation...
May 1, 2017: Applied Optics
https://www.readbyqxmd.com/read/28463296/shift-multiplexing-with-a-spherical-wave-in-holographic-data-storage-based-on-a-computer-generated-hologram
#12
Teruyoshi Nobukawa, Takanori Nomura
A holographic data storage system based on a computer-generated hologram (CGH) is simple and compact because a hologram of a data page is recorded through an imaging system without an additional optical path for a reference beam. In this paper, to improve the recording density of the holographic data storage based on a CGH, a shift multiplexing method using a spherical wave is proposed. A data page to be stored and a spherical wave are simultaneously reconstructed from a single CGH. This allows shift multiplexing by displacing a recording medium...
May 1, 2017: Applied Optics
https://www.readbyqxmd.com/read/28436605/digeorge-like-syndrome-in-a-child-with-a-3p12-3-deletion-involving-mir4273-gene-born-to-a-mother-with-gestational-diabetes-mellitus
#13
Emilia Cirillo, Giuliana Giardino, Vera Gallo, Giovanni Galasso, Roberta Romano, Roberta D'Assante, Giulia Scalia, Luigi Del Vecchio, Lucio Nitsch, Rita Genesio, Claudio Pignata
Chromosome 22q11.2 deletion is the most common chromosomal alteration associated with DiGeorge syndrome (DGS), even though this is not the only underlying cause of DGS. In rare patients, mutations in a single gene, TBX1, have been described resulting in a DGS phenotype. Recently, it has been reported that at least part of the TBX1 mutant phenotype is due to excessive bone morphogenetic proteins (BMP) signaling. Evidence suggests that miRNA may modulate the expression of critical T-box transcriptional regulators during midface development and Bmp-signaling...
April 24, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28431992/genomic-answers-for-recurrent-spontaneous-abortion-in-saudi-arabia-an-array-comparative-genomic-hybridization-approach
#14
Sajjad Karim, Hasan Salleh Jamal, Abdullraheem Rouzi, Mohammed Salleh M Ardawi, Hans-Juergen Schulten, Zeenat Mirza, Nuha A Alansari, Maha M Al-Quaiti, Heba Abusamra, Muhammad Imran Naseer, Rola Turki, Adeel Gulzar Chaudhary, Mamdooh Gari, Adel Mohammed Abuzenadah, Mohammed Hussain Al-Qhatani
To study the genomics/genetic factors associated with recurrent spontaneous abortion (RSA), as ∼50% of RSA are unexplained. However, chromosome abnormalities have been reported to play major role in RSA. We performed whole genome array-CGH based genomic analysis of forty four Saudi RSA patients to identify potential molecular and chromosomal abnormalities. We identified a total of 845 alterations, usually not detected by classic cytogenetic methods, in different genomic regions using a cut off value of -0...
April 18, 2017: Reproductive Biology
https://www.readbyqxmd.com/read/28423547/genomic-imbalances-are-involved-in-mir-30c-and-let-7a-deregulation-in-ovarian-tumors-implications-for-hmga2-expression
#15
Antonio Agostini, Marta Brunetti, Ben Davidson, Claes G Tropé, Sverre Heim, Ioannis Panagopoulos, Francesca Micci
The High-mobility group AT-hook 2 protein (HMGA2) is involved in different processes during tumorigenesis. High expression levels of HMGA2 are found in various types of cancer, with recent studies highlighting the important role of miRNAs in the regulation of HMGA2 expression. We report a study of 155 ovarian tumors (30 sex-cord stromal tumors, 22 borderline tumors, and 103 carcinomas) analyzed for HMGA2 expression as well as the expression of two miRNAs targeting this gene, let-7a and miR-30c. We also evaluated the expression of the fragile histidine triad (FHIT) and lin28 homologues (LIN28A/B) genes which are known to be an enhancer of miR-30c expression and a repressor of let-7a, respectively...
March 28, 2017: Oncotarget
https://www.readbyqxmd.com/read/28422950/application-of-high-resolution-array-comparative-genomic-hybridization-in-children-with-unknown-syndromic-microcephaly
#16
Eirini Tsoutsou, Maria Tzetis, Krinio Giannikou, Maria Braoudaki, Anastasis Mitrakos, Stella Amenta, Nikoletta Selenti, Emmanouil Kanavakis, Dimitrios Zafeiriou, Sophia Kitsiou-Tzeli, Helena Fryssira
BACKROUND: Microcephaly can be either isolated or coexists with other neurological entities and/or multiple congenital anomalies, known as syndromic microcephaly. Although many syndromic cases can be classified based on the characteristic phenotype, some others remain uncertain and require further investigation. The present study describes the application of array-Comparative Genomic Hybridization (array-CGH) as a diagnostic tool for the study of patients with clinical unknown syndromic microcephaly...
April 19, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28413209/duplication-17p11-2-potocki-lupski-syndrome-in-a-child-with-developmental-delay
#17
S Shuib, N N Saaid, Z Zakaria, J Ismail, Z Abdul Latiff
Potocki-Lupski syndrome (PTLS), also known as duplication 17p11.2 syndrome, trisomy 17p11.2 or dup(17)(p11.2p11.2) syndrome, is a developmental disorder and a rare contiguous gene syndrome affecting 1 in 20,000 live births. Among the key features of such patients are autism spectrum disorder, learning disabilities, developmental delay, attention-deficit disorder, infantile hypotonia and cardiovascular abnormalities. Previous studies using microarray identified variations in the size and extent of the duplicated region of chromosome 17p11...
April 2017: Malaysian Journal of Pathology
https://www.readbyqxmd.com/read/28411847/the-molecular-revolution-in-cutaneous-biology-era%C3%A2-of-cytogenetics-and-copy-number%C3%A2-analysis
#18
REVIEW
Jürgen Bauer
Development of karyotyping techniques in the 1950s sparked groundbreaking reports of chromosomal aberrations in cancer, such as the Philadelphia chromosome in chronic myelogenous leukemia in 1960, followed by a number of others. Spatial resolution of karyotyping is limited and vital tumor cells are required for metaphase preparation. To overcome these limitations, DNA hybridization techniques were developed. In situ hybridization of radioactively or fluorescence labeled RNA probes onto tumor samples allowed the identification of specific genomic regions, translocations and copy number alterations...
May 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28409824/a-comparative-genomic-hybridization-approach-to-study-gene-copy-number-variations-among-chinese-hamster-cell-lines
#19
Nandita Vishwanathan, Arpan Bandyopadhyay, Hsu-Yuan Fu, Kathryn C Johnson, Nathan M Springer, Wei-Shou Hu
Chinese Hamster Ovary (CHO) cells are aneuploid in nature. The genome of recombinant protein producing CHO cell lines continuously undergoes changes in its structure and organization. We analyzed nine cell lines, including parental cell lines, using a comparative genomic hybridization (CGH) array focused on gene-containing regions. The comparison of CGH with copy-number estimates from sequencing data showed good correlation. Hierarchical clustering of the gene copy number variation data from CGH data revealed the lineage relationships between the cell lines...
April 14, 2017: Biotechnology and Bioengineering
https://www.readbyqxmd.com/read/28399932/guideline-recommendations-for-diagnosis-and-clinical-management-of-ring14-syndrome-first-report-of-an-ad-hoc-task-force
#20
REVIEW
Berardo Rinaldi, Alessandro Vaisfeld, Sergio Amarri, Chiara Baldo, Giuseppe Gobbi, Pamela Magini, Erto Melli, Giovanni Neri, Francesca Novara, Tommaso Pippucci, Romana Rizzi, Annarosa Soresina, Laura Zampini, Orsetta Zuffardi, Marco Crimi
BACKGROUND: Ring chromosome 14 syndrome is a rare chromosomal disorder characterized by early onset refractory epilepsy, intellectual disability, autism spectrum disorder and a number of diverse health issues. RESULTS: The aim of this work is to provide recommendations for the diagnosis and management of persons affected by ring chromosome 14 syndrome based on evidence from literature and experience of health professionals from different medical backgrounds who have followed for several years subjects affected by ring chromosome 14 syndrome...
April 11, 2017: Orphanet Journal of Rare Diseases
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