نتایج جستجو برای: karyotyping

تعداد نتایج: 1991  

Journal: :BJOG: An International Journal of Obstetrics & Gynaecology 2015

Journal: :Journal of pediatric hematology/oncology 2009
Louise Olde Nordkamp Clemens Mellink Ellen van der Schoot Henk van den Berg

BACKGROUND Chromosomal abnormalities, such as t(9;22)(q34;q11) (ABL/BCR), t(12;21)(p13;q22) (TEL/AML1), and t(11q23) (MLL) are independent prognostic indicators in childhood acute lymphoblastic leukemia resulting in risk adapted therapy. Accurate and rapid detection of these abnormalities is mandatory, which is achieved by karyotyping, fluorescence in situ hybridization, and real time quantitat...

2016
Saghar Ghasemi Firouzabadi Roshanak Vameghi Roxana Kariminejad Hossein Darvish Susan Banihashemi Mahboubeh Firouzkouhi Moghaddam Peyman Jamali Hassan Farbod Mofidi Tehrani Hossein Dehghani Mohammad Reza Raeisoon Mehrnaz Narooie-Nejad Javad Jamshidi Abbas Tafakhori Saeid Sadabadi Farkhondeh Behjati

Autism is a common neuropsychiatric disorder affecting 1 in 68 children. Copy number variations (CNVs) are known to be major contributors of autism spectrum disorder (ASD). There are different whole genome or targeted techniques to identify CNVs in the patients including karyotyping, multiplex ligation-dependent probe amplification (MLPA) and array CGH. In this study, we used karyotyping and ML...

Journal: :Journal of Korean Medical Science 1999
K. E. Hong J. H. Kim S. Y. Moon S. K. Oh

To determine the frequency of chromosomal abnormalities in a child psychiatric population, and to evaluate possible associations between types of abnormalities and patient's clinical characteristics, cytogenetic examination was performed on 604 patients. Demographic data, reasons for karyotyping, clinical signs, and other patient characteristics were assessed and correlated with the results fro...

Journal: :American journal of human genetics 2010
David T Miller Margaret P Adam Swaroop Aradhya Leslie G Biesecker Arthur R Brothman Nigel P Carter Deanna M Church John A Crolla Evan E Eichler Charles J Epstein W Andrew Faucett Lars Feuk Jan M Friedman Ada Hamosh Laird Jackson Erin B Kaminsky Klaas Kok Ian D Krantz Robert M Kuhn Charles Lee James M Ostell Carla Rosenberg Stephen W Scherer Nancy B Spinner Dimitri J Stavropoulos James H Tepperberg Erik C Thorland Joris R Vermeesch Darrel J Waggoner Michael S Watson Christa Lese Martin David H Ledbetter

Chromosomal microarray (CMA) is increasingly utilized for genetic testing of individuals with unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), or multiple congenital anomalies (MCA). Performing CMA and G-banded karyotyping on every patient substantially increases the total cost of genetic testing. The International Standard Cytogenomic Array (ISC...

2014
Jung Hye Byeon Eunsim Shin Gun-Ha Kim Kyungok Lee Young Sook Hong Joo Won Lee Baik-Lin Eun

PURPOSE Array comparative genomic hybridization (array-CGH) is a technique used to analyze quantitative increase or decrease of chromosomes by competitive DNA hybridization of patients and controls. This study aimed to evaluate the benefits and yield of array-CGH in comparison with conventional karyotyping in pediatric neurology patients. MATERIALS AND METHODS We included 87 patients from the...

Journal: :Journal of biomedical optics 2010
Xingwei Wang Bin Zheng Shibo Li John J Mulvihill Xiaodong Chen Hong Liu

Karyotyping is an important process to classify chromosomes into standard classes and the results are routinely used by the clinicians to diagnose cancers and genetic diseases. However, visual karyotyping using microscopic images is time-consuming and tedious, which reduces the diagnostic efficiency and accuracy. Although many efforts have been made to develop computerized schemes for automated...

2015
Mi-Young Lee Dae-Yeon Cho Hye-Sung Won Ah Reum Hwang Bada Jeong Jihun Kim Mijin Oh

OBJECTIVE To evaluate the performance of Momguard, non-invasive prenatal test (NIPT) for detecting trisomy (T) 21, T18, T13, and sex-chromosome abnormalities recently developed in Korea. METHODS This preliminary study formed part of a large prospective cohort study conducted at Asan Medical Center, Seoul, Korea. Only pregnant women who underwent both NIPT and confirmatory karyotyping were inc...

2012
Y. Ben Ezra

© 2012 Lembrikov et al., licensee InTech. This is an open access chapter distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. All-Optical Signal Processing for High Spectral Efficiency (SE) Optical Communication

2012
Xuqing Wu Shishir Shah

This chapter presents an algorithm for automatically generating a prototype from multicolor karyotypes obtained via multi-spectral imaging of human chromosomes. The single representative prototype of the color karyotype that is generated represents the analytical integration of a group of karyotypes obtained via Multicolor Fluorescence In Situ Hybridization (MFISH) method. Multicolor karyotypin...

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