Results 91 to 100 of about 140,678 (408)

Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward

Frontiers in Genetics
ObjectiveTo assess the detection rate of exome sequencing (ES) in fetuses diagnosed as skeletal abnormalities (SKA) with normal karyotype or chromosomal microarray analysis (CMA) results.MethodsWe conducted electronic searches in four databases, focusing
Mengting Jiang, Mengting Jiang, Bin Zhang, Jing Wang, Cui Wei, Xiuzhen Mao, Bin Yu   +6 more
doaj   +1 more source

Recurrent patterns of DNA copy number alterations in tumors reflect metabolic selection pressures. [PDF]

, 2017
Copy number alteration (CNA) profiling of human tumors has revealed recurrent patterns of DNA amplifications and deletions across diverse cancer types.
Balanis, Nikolas G, Beck, Lillie, Braas, Daniel, Cass, Ashley, Chan, Shawna, Christofk, Heather R, Delgado, Adrian, Friedman, Michael, Go, James, Graeber, Thomas G, Graham, Nicholas A, Hurtz, Christian, Larson, Steven M, Lomova, Anastasia, Mellinghoff, Ingo K, Minasyan, Aspram, Multani, Asha S, Müschen, Markus, Ng, Carina, Palaskas, Nicolaos, Port, Elisa, Qiao, Rong, Schultz, Nikolaus, Ten Hoeve, Johanna, Wu, Hong, Zhao, Sophie   +25 more
core   +3 more sources

Noninvasive Prenatal Molecular Karyotyping from Maternal Plasma

PLoS ONE, 2013
Fetal DNA is present in the plasma of pregnant women. Massively parallel sequencing of maternal plasma DNA has been used to detect fetal trisomies 21, 18, 13 and selected sex chromosomal aneuploidies noninvasively.
Stephanie C. Y. Yu, P. Jiang, K. Choy, Kwan Chee Allen Chan, H. Won, W. Leung, E. Lau, M. Tang, T. Leung, Y. Lo, R. Chiu   +10 more
semanticscholar   +1 more source

Case Report: Unusual Neurological Features of Leigh Syndrome due to m.8993T>G Pathogenic Variant in the MT‐ATP6 Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The MT‐ATP6 gene m.8993T>G pathogenic variant has been associated with Leigh syndrome, especially in patients exhibiting a high degree of heteroplasmy. Although patients may present with a wide phenotypic spectrum, characteristic findings include bilateral, symmetric hyperintensities in the basal ganglia and brainstem on brain MRI ...
Ramya Treitel, Julie McLaughlin, Marta Frigeni   +2 more
wiley   +1 more source

Counting absolute number of molecules using unique molecular identifiers [PDF]

, 2011
Advances in molecular biology have made it easy to identify different DNA or RNA species and to copy them. Identification of nucleic acid species can be accomplished by reading the DNA sequence; currently millions of molecules can be sequenced in a ...
Anna Vä, Jussi Taipale, Kasper Karlsson, Martin Bonke, Sten Linnarsson, Teemu Kivioja   +5 more
core   +1 more source

Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Artificial intelligence (AI) is rapidly transforming numerous aspects of daily life, including clinical practice and biomedical research. In light of this rapid transformation, and in the context of medical genetics, we assembled a group of leaders in the field to respond to the question about how AI is affecting, and especially how AI will ...
Benjamin D. Solomon, Morgan Cheatham, Thales A. C. de Guimarães, Dat Duong, Melissa A. Haendel, Tzung‐Chien Hsieh, Behnam Javanmardi, Britt Johnson, Peter Krawitz, Paul Kruszka, Tim Laurent, Ni‐Chung Lee, Kirsty McWalter, Michel Michaelides, Klaus Mohnike, Nikolas Pontikos, Maria J. Guillen Sacoto, Yousif J. Shwetar, Vincent D. Ustach, Rebekah L. Waikel, William Woof   +20 more
wiley   +1 more source

TRIPLOID KARYOTYPES IN PRENATAL DIAGNOSIS AT UNIVERSITY CLINICAL CENTER OF REPUBLIC OF SRPSKA

Genetics & Applications, 2017
Triploidy is chromosomal abnormality characterized by the presence of three sets of chromosomes instead of the normal two sets, so the triploid fetus has 69 chromosomes.
Marija Vuković, Zoran Obradović, Radmila Malešević, Željko Karan, Dženita Kurtćehajić, Svjetlana Uletilović, Branka Samardžić, Tijana Jaroš   +7 more
doaj  

Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome [PDF]

, 2010
Background The introduction of molecular karyotyping technologies facilitated the identification of specific genetic disorders associated with imbalances of certain genomic regions.
Bena, F, Bottani, A, Breckpot, J, Cheung, SW, Devriendt, K, Fong, CT, Friedman, JM, Fryns, JP, Gimelli, S, Gorski, JL, Grange, DK, Kussmann, JL, Menten, Björn, Morris, MM, Mortier, Geert, Philip, N, Salamone, JM, Scalais, E, Thienpont, B, Van Esch, H, Vermeesch, JR, Villard, L, Yong, SL, Zahir, F   +23 more
core   +2 more sources

Addressing the Diagnostic Odyssey for Adults With Neurodevelopmental Disabilities: Case Study of an Individual With Mandibulofacial Dysostosis With Microcephaly

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Whole exome sequencing (WES) has been widely used in the pediatric setting to increase diagnostic yield, provide treatment options, and to estimate reoccurrence risks. However, there is limited knowledge regarding the utility of this technology in adults with neurodevelopmental disabilities.
Ruhi Shah, Neora Shifrin, Mary Ellen Keogh, Elaine Marchi, Maureen Gavin, Karen Amble, Gholson J. Lyon   +6 more
wiley   +1 more source

BAC-FISH assays delineate complex chromosomal rearrangements in a case of post-Chernobyl childhood thyroid cancer [PDF]

, 2009
Structural chromosome aberrations are known hallmarks of many solid tumors. In the papillary form of thyroid cancer (PTC), for example, activation of the receptor tyrosine kinase (RTK) genes, RET and neurotrophic tyrosine kinase receptor type I (NTRK1)
Baumgartner, Adolf, Kwan, Johnson, Lu, Chun-Mei, Wang, Mei, Weier, Heinz-Ulrich G., Weier, Jingly F., Zitzelsberger, Horst F.   +6 more
core   +2 more sources