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https://www.readbyqxmd.com/read/28431992/genomic-answers-for-recurrent-spontaneous-abortion-in-saudi-arabia-an-array-comparative-genomic-hybridization-approach
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
https://www.readbyqxmd.com/read/28396697/efficient-and-cost-effective-genetic-analysis-of-products-of-conception-and-fetal-tissues-using-a-qf-pcr-array-cgh-strategy-five-years-of-data
#8
Celia Donaghue, Nada Davies, Joo Wook Ahn, Helen Thomas, Caroline Mackie Ogilvie, Kathy Mann
BACKGROUND: Traditional testing of miscarriage products involved culture of tissue followed by G-banded chromosome analysis; this approach has a high failure rate, is labour intensive and has a resolution of around 10 Mb. G-banded chromosome analysis has been replaced by molecular techniques in some laboratories; we previously introduced a QF-PCR/MLPA testing strategy in 2007. To improve diagnostic yield and efficiency we have now updated our testing strategy to a more comprehensive QF-PCR assay followed by array CGH...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28388586/her2-and-egfr-amplification-and-expression-in-urothelial-carcinoma-occurs-in-distinct-biological-and-molecular-contexts
#9
Pontus Eriksson, Gottfrid Sjödahl, Gunilla Chebil, Fredrik Liedberg, Mattias Höglund
We analyzed a cohort of 599 cases of urothelial carcinoma for EGFR, ERBB2, and ERBB3 gene expression and genomic alterations. The cohort consisted of a reference set (n = 292) comprising all stages and grades and one set (n = 307) of advanced tumors. All cases were previously classified into urothelial carcinoma molecular subtypes. Genomic amplifications were established by array-CGH or in-situ hybridization, and gene expression both at mRNA and protein levels. Clinical HER2 status was independently evaluated using standard clinical procedures...
March 24, 2017: Oncotarget
https://www.readbyqxmd.com/read/28387648/dysmorphic-features-frontal-cerebral-cavernoma-and-hyperglycemia-in-a-girl-with-a-de-novo-deletion-of-7-23-mb-in-region-7p13-p12-1
#10
Gilberto Pérez López, Beatriz Villafuerte Quispe, María José Cabrejas Núñez, Luis Castaño, Raquel Barrio
We describe the case of a 7 year old girl referred to our Diabetes Unit for hyperglycemia associated to facial dysmorphic features, intellectual disability and cerebral cavernomas, who was initially diagnosed with type 1 diabetes mellitus (positive anti-IA2 antibody and HLA DR3/DR4/DQ2). In follow up, due to the evolution of the diabetes (very good metabolic control with low insulin dose and negative IA-2 antibodies - samples analyzed in two different laboratories-), first clinical suspicion was GCK-related Maturity-Onset Diabetes of the Young (MODY 2) by persistent mild hyperglycemia in the fasting state, which was substantiated in Multiplex Ligation-dependent Probe Amplification (MLPA)...
April 7, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28384287/genome-wide-profiling-in-oral-squamous-cell-carcinoma-identifies-a-four-genetic-marker-signature-of-prognostic-significance
#11
Vui King Vincent-Chong, Iman Salahshourifar, Kar Mun Woo, Arif Anwar, Rozaimi Razali, Ranganath Gudimella, Zainal Ariff Abdul Rahman, Siti Mazlipah Ismail, Thomas George Kallarakkal, Anand Ramanathan, Wan Mahadzir Wan Mustafa, Mannil Thomas Abraham, Keng Kiong Tay, Rosnah Binti Zain
BACKGROUND: Cancers of the oral cavity are primarily oral squamous cell carcinomas (OSCCs). Many of the OSCCs present at late stages with an exceptionally poor prognosis. A probable limitation in management of patients with OSCC lies in the insufficient knowledge pertaining to the linkage between copy number alterations in OSCC and oral tumourigenesis thereby resulting in an inability to deliver targeted therapy. OBJECTIVES: The current study aimed to identify copy number alterations (CNAs) in OSCC using array comparative genomic hybridization (array CGH) and to correlate the CNAs with clinico-pathologic parameters and clinical outcomes...
2017: PloS One
https://www.readbyqxmd.com/read/28381036/programmable-cgh-on-photochromic-plates-coded-with-dmd-generated-masks
#12
R Alata, G Pariani, F Zamkotsian, P Lanzoni, A Bianco, C Bertarelli
Computer Generated Holograms (CGHs) are used for wavefront shaping and complex optics testing. Present technology allows for recording binary CGHs. We propose a Digital Micro-mirror Device (DMD) as a reconfigurable mask, to record rewritable binary and grayscale CGHs on a photochromic plate. Opaque at rest, this plate becomes transparent when it is illuminated with visible light of suitable wavelength. We have successfully recorded the very first amplitude grayscale CGH, with a contrast greater than 50, which was reconstructed with a high fidelity in shape, intensity, size and location...
March 20, 2017: Optics Express
https://www.readbyqxmd.com/read/28381004/speckle-reduced-lensless-holographic-projection-from-phase-only-computer-generated-hologram
#13
Chenliang Chang, Yijun Qi, Jun Wu, Jun Xia, Shouping Nie
This paper presents a method for the implementation of speckle reduced lensless holographic projection based on phase-only computer-generated hologram (CGH). The CGH is calculated from the image by double-step Fresnel diffraction. A virtual convergence light is imposed to the image to ensure the focusing of its wavefront to the virtual plane, which is established between the image and the hologram plane. The speckle noise is reduced due to the reconstruction of the complex amplitude of the image via a lensless optical filtering system...
March 20, 2017: Optics Express
https://www.readbyqxmd.com/read/28380936/experimental-study-on-optical-image-encryption-with-asymmetric-double-random-phase-and-computer-generated-hologram
#14
Sixing Xi, Xiaolei Wang, Lipei Song, Zhuqing Zhu, Bowen Zhu, Shuai Huang, Nana Yu, Huaying Wang
Optical image encryption, especially double-random-phase-based, is of great interest in information security. In this work, we experimentally demonstrate the security and feasibility of optical image encryption with asymmetric double random phase and computer-generated hologram (CGH) by using spatial light modulator. First of all, the encrypted image modulated by asymmetric double random phase is numerically encoded into real-value CGH. Then, the encoded real-value CGH is loaded on the spatial light modulator and optically decrypted in self-designed experimental system...
April 3, 2017: Optics Express
https://www.readbyqxmd.com/read/28378116/-genetic-methods-for-analysis-of-autoinflammatory-diseases
#15
REVIEW
M Bienias, N König, C Wolf, S Kretschmer, A Rösen-Wolff, R Berner, V Tüngler, M A Lee-Kirsch
Over the past years the phenotypic and genetic spectrum of autoinflammatory diseases has continuously increased. Moreover, several monogenic autoinflammatory disorders have now been identified where febrile episodes are not among the leading symptoms and which can be accompanied by autoimmune phenomena and susceptibility to infections. Autoinflammatory conditions that are characterized by uncontrolled activity of cytokines, such as interleukin-1 beta (IL1β), tumor necrosis factor alpha (TNF-α) and type 1 interferons (1-IFN), are amenable to specific therapeutic interventions...
April 4, 2017: Zeitschrift Für Rheumatologie
https://www.readbyqxmd.com/read/28377914/a-case-of-22q11-deletion-syndrome-22q11ds-with-a-panayiotopoulos-epileptic-pattern-are-additional-copy-number-variations-a-possible-second-hit-in-modulating-the-22q11ds-phenotype
#16
Veronica Bertini, Angelo Valetto, Alessia Azzarà, Annalisa Legitimo, Giuseppe Saggese, Rita Consolini, Alessandro Orsini, Alice Bonuccelli
"22q11 deletion syndrome" (22q11DS) is a rare genetic syndrome, in which most patients share the same deletion, but their clinical features may vary a great deal. The genetic mechanisms underlying the variable expressivity and reduced penetrance of 22q11DS still have to be fully elucidated. Epilepsy has been reported in about 15.2% of the patients; however, few studies have focused on this topic, and in most cases, a detailed epileptic profile is missing. Since only a minority of patients experience epileptic seizures, 22q11deletion can be considered a predisposing factor, which is not sufficient "per se" to cause epilepsy; to date, no candidate gene for epilepsy has been identified in the deleted region...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28377828/paravertebral-well-differentiated-liposarcoma-with-low-grade-osteosarcomatous-component-case-report-with-11-year-follow-up-radiological-pathological-and-genetic-data-and-literature-review
#17
Nicolas Macagno, Stéphane Fuentes, Gonzague de Pinieux, André Maues de Paula, Sébastien Salas, Jean-Camille Mattéi, Charlotte Dupuis, Romain Appay, Alain Aurias, Henry Dufour, Dominique Figarella-Branger, Corinne Bouvier
Despite being one of the most frequent soft-tissue sarcomas, well-differentiated liposarcoma has never been reported near the spine. The authors present the case of a 67-year-old man with progressive history of back pain. Physical examination revealed a mass located within the right paravertebral muscles. MR and CT imaging showed a heavily ossified central mass surrounded by a peripheral fatty component. No connection with the underlying bone was detected on imagery and during surgery. After surgical resection, histopathological examination revealed a tumor harboring combined features of well-differentiated liposarcoma and low-grade osteosarcoma...
2017: Case Reports in Pathology
https://www.readbyqxmd.com/read/28371070/molecular-analysis-of-a-novel-intragenic-deletion-in-gpc3-in-three-cousins-with-simpson-golabi-behmel-syndrome
#18
Julia Schmidt, Ronja Hollstein, Frank J Kaiser, Gabriele Gillessen-Kaesbach
Simpson-Golabi-Behmel syndrome (SGBS) is characterized by multiple congenital abnormalities, pre/postnatal overgrowth, distinctive craniofacial features intellectual disability (ID) of variable degree, and an increased risk for embryonal tumors. SGBS is X-linked recessive and caused by deletions, duplications, and point mutations in GPC3, encoding a membrane associated cell surface heparan sulfate proteoglycan named glypican 3. GPC3 plays essential roles in the regulation of cell growth signaling and cell division...
March 29, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28362709/a-diagnostic-algorithm-combining-immunohistochemistry-and-molecular-cytogenetics-to-diagnose-challenging-melanocytic-tumors
#19
Sylvia Redon, Briac Guibourg, Matthieu Talagas, Pascale Marcorelles, Arnaud Uguen
Some melanocytic tumors are diagnostic challenges and require ancillary tools in helping the pathologists to determine their potential of malignancy. We intend to propose a diagnostic algorithm in helping to classify challenging melanocytic tumors combining histology, immunohistochemistry, and cytogenetics. We report on 24 spitzoid and/or misdiagnosed melanocytic tumors studied with a triple p16, Ki-67, and HMB45 immunohistochemistry score, fluorescent in situ hybridization (FISH) with melanoma-dedicated and non-melanoma-dedicated probes and comparative genomic hybridization on DNA microarray (CGH array)...
March 30, 2017: Applied Immunohistochemistry & Molecular Morphology: AIMM
https://www.readbyqxmd.com/read/28357185/microdeletion-of-chromosome-1q21-3-in-fraternal-twins-is-associated-with-mental-retardation-microcephaly-and-epilepsy
#20
Fatma Mujgan Sonmez, Eyyup Uctepe, Dilek Aktas, Mehmet Alikasifoglu
Reported here are twins, both of whom have a 1q21.3 microdeletion and who exhibit key features common to previously reported cases such as microcephaly and developmental delay. However, some clinical findings and deleted genes differed from those in previously reported cases. The karyotype was normal 46, XX for both of the twins. Array comparative genomic hybridization (CGH) identified a 2.6 Mb deletion on chromosome 1q21.3 (chr1: 153,514,121-156,171,335 bp) in case 1 and a 1.6 Mb deletion on chromosome 1q21...
February 2017: Intractable & Rare Diseases Research
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