Results 51 to 60 of about 109,479 (290)

Molecular cytogenetic identification of small supernumerary marker chromosomes using chromosome microarray analysis [PDF]

Molecular Cytogenetics, 2019
This study aimed to evaluate the feasibility of chromosomal microarray analysis (CMA) in detecting the origin and structure of small supernumerary marker chromosomes (sSMCs) in prenatal and postnatal cases and to clarify sSMC-related genotype-phenotype correlations.Thirty-three cases carrying sSMCs were identified by banding cytogenetics.
Huili Xue, Hailong Huang, Yan Wang, Gang An, Min Zhang, Liangpu Xu, Yuan Lin   +6 more
openaire   +3 more sources

Multiple Congenital Anomalies: Meningoencephalocele, Labiopalatoschisis and Clubfoot with Normal Chromosomal Analysis

Indonesian Journal of Obstetrics and Gynecology, 2022
Objective : To perform chromosomal microarray when similar case was found. Methods: Case report Case : G1P0A0, 20 years-old, 23-24 weeks gestation, normal BMI, was diagnosed by ultrasonography with multiple congenital anomaly consisted by ...
Sefty M. Samosir, Angghea Rachmiawaty, Ita Fatati, Alamsyah Aziz   +3 more
doaj   +1 more source

Transcribed ultraconserved noncoding RNAs (T-UCR) are involved in Barrett's esophagus carcinogenesis. [PDF]

, 2014
Barretts esophagus (BE) involves a metaplastic replacement of native esophageal squamous epithelium (Sq) by columnar-intestinalized mucosa, and it is the main risk factor for Barrett-related adenocarcinoma (BAc).
Baffa, R, Bornschein, J, Braconi, C, Croce, CM, D'Angelo, E, Dall'Olmo, L, Fassan, M, Galasso, M, Gasparini, P, Nuovo, GJ, Pizzi, M, Realdon, S, Rugge, M, Souza, RF, Valeri, N, Vicentini, C, Volinia, S, Zaninotto, G   +17 more
core   +4 more sources

A Pathway Analysis Tool for Analyzing Microarray Data of Species with Low Physiological Information [PDF]

, 2008
Pathway information provides insight into the biological processes underlying microarray data. Pathway information is widely available for humans and laboratory animals in databases through the internet, but less for other species, for example, livestock.
Pas, M.F.W., te, Hemert, S., van, Hulsegge, B., Hoekman, A.J.W., Pool, M.H., Rebel, J.M.J., Smits, M.A.   +6 more
core   +3 more sources

Prenatal diagnosis and molecular cytogenetic analysis of pure chromosome 10p15.3 microdeletion using chromosomal microarray analysis. [PDF]

BMC Med Genomics
The literature contains exceedingly limited reports on chromosome 10p15.3 microdeletions. In the present study, two cases of fetuses with pure terminal 10p15.3 microdeletion syndrome in a Chinese population were examined, with the objective of enhancing understanding of the genotype-phenotype correlation associated with 10p15.3 microdeletions.Two ...
Zhang N, Huang N, Chen Y, Chen X, Zhuang J.   +4 more
europepmc   +4 more sources

Comparative genomics in chicken and Pekin duck using FISH mapping and microarray analysis [PDF]

, 2009
Background: The availability of the complete chicken (Gallus gallus) genome sequence as well as a large number of chicken probes for fluorescent in-situ hybridization (FISH) and microarray resources facilitate comparative genomic studies between chicken ...
Skinner, B., Robertson, L., Tempest, H., Langley, E., Ioannou, D., Fowler, K., Crooijmans, R., Hall, A., Griffin, D., Völker, M., Skinner, B., Robertson, L., Tempest, H., Langley, E., Ioannou, D., Fowler, K., Crooijmans, R., Hall, A., Griffin, D., Völker, M.   +19 more
core   +6 more sources

Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies

Jornal de Pediatria (Versão em Português), 2015
Objectives: Clinical use of microarray‐based techniques for the analysis of many developmental disorders has emerged during the last decade. Thus, chromosomal microarray has been positioned as a first‐tier test. This study reports the first experience in
Guillermo Lay‐Son, Karena Espinoza, Cecilia Vial, Juan C. Rivera, María L. Guzmán, Gabriela M. Repetto   +5 more
doaj   +3 more sources

Visualization-based discovery and analysis of genomic aberrations in microarray data

BMC Bioinformatics, 2005
Background Chromosomal copy number changes (aneuploidies) play a key role in cancer progression and molecular evolution. These copy number changes can be studied using microarray-based comparative genomic hybridization (array CGH) or gene expression ...
Chen Xing, Myers Chad L, Troyanskaya Olga G   +2 more
doaj   +1 more source

Effectiveness of Chromosomal Microarray Analysis for Prenatal Diagnosis of Fetal Echogenic Intracardiac Focus: A Single-Center Experience

International Journal of General Medicine, 2021
Hailong Huang,1,* Meiying Cai,1,* Linyu Liu,1,2 Liangpu Xu,1 Na Lin1 1Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou City, Fujian ...
Huang H, Cai M, Liu L, Xu L, Lin N
doaj  

A Clinical and Molecular Description of a Rare Case of Chromosomal Abnormality (Partial Trisomy 14q11.2-q21.1 and Partial Monosomy 21q11.2-q21.3)

Вопросы современной педиатрии, 2016
The article presents a detailed clinical and molecular and cytogenetic analysis of the unique case of a rare chromosomal abnormality (duplication of 14q11.2-q21.1 and deletion of 21q11.2-q21.3).
Grigory S. Vasilyev, Tatiana I. Meshcheryakova, Elena N. Lukash, Svetlana S. Zhylina, Ilya V. Kanivets, Alexander N. Petrin   +5 more
doaj   +1 more source