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Prenatal Diagnosis Using Chromosomal Microarray Analysis in High-Risk Pregnancies
Journal of Clinical Medicine, 2022 Background: To assess the value of chromosomal microarray analysis (CMA) during the prenatal diagnosis of high-risk pregnancies. Methods: Between January 2016 and November 2021, we included 178 chorionic villi and 859 amniocentesis samples from ...
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The Journal of Maternal-Fetal & Neonatal Medicine, 2012
Birth defects are very common, affecting two to three infants in every 100 births, and often represent a diagnostic and management challenge. The birth of a child with multiple malformations is the beginning of a complex diagnostic process, where the primary purpose is to determine a precise nosological definition.
RESTA, Nicoletta, Memo L.
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Birth defects are very common, affecting two to three infants in every 100 births, and often represent a diagnostic and management challenge. The birth of a child with multiple malformations is the beginning of a complex diagnostic process, where the primary purpose is to determine a precise nosological definition.
RESTA, Nicoletta, Memo L.
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European Neuropsychopharmacology, 2019
Background Autism Spectrum Disorders (ASD) are neurodevelopmental disorders that share difficulties in communication, social interactions and stereotyped behaviors. ASD has a heritability of 64 – 91% and near 10% of ASD patients have large chromosomal rearrangements.
Claudia Lattig +4 more
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Background Autism Spectrum Disorders (ASD) are neurodevelopmental disorders that share difficulties in communication, social interactions and stereotyped behaviors. ASD has a heritability of 64 – 91% and near 10% of ASD patients have large chromosomal rearrangements.
Claudia Lattig +4 more
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Blood, 2014
Abstract Background: The success in treatment of B acute lymphoblastic leukemia (B-ALL) is partially attributable to careful risk stratification of patients, based largely on biology of disease and disease response to therapy. Recently, gene expression profiling and subsequent high-throughput sequencing of B-ALL has resulted in the ...
Jennifer McNeer +4 more
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Abstract Background: The success in treatment of B acute lymphoblastic leukemia (B-ALL) is partially attributable to careful risk stratification of patients, based largely on biology of disease and disease response to therapy. Recently, gene expression profiling and subsequent high-throughput sequencing of B-ALL has resulted in the ...
Jennifer McNeer +4 more
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International Journal of Molecular Sciences, 2016 Copy number variants (CNVs) detected by chromosomal microarray analysis (CMA) significantly contribute to understanding the etiology of autism spectrum disorder (ASD) and other related conditions. In recognition of the value of CMA testing and its impact
Megan M Martin, Charles H Hensel
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Cancer Research, 2011
Abstract The application of chromosomal microarray analysis (CMA) in cancer research has produced a wealth of useful information about copy number alterations (CNAs) and their implications in cancer classification, disease progression, therapy response, and patient outcome.
Marilyn M. Li +4 more
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Abstract The application of chromosomal microarray analysis (CMA) in cancer research has produced a wealth of useful information about copy number alterations (CNAs) and their implications in cancer classification, disease progression, therapy response, and patient outcome.
Marilyn M. Li +4 more
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American Journal of Medical Genetics Part A, 2007
AbstractChromosomal microarray analysis (CMA) by array‐based comparative genomic hybridization (CGH) is a new clinical test for the detection of well‐characterized genomic disorders caused by chromosomal deletions and duplications that result in gene copy number variation (CNV).
Frank J, Probst +13 more
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AbstractChromosomal microarray analysis (CMA) by array‐based comparative genomic hybridization (CGH) is a new clinical test for the detection of well‐characterized genomic disorders caused by chromosomal deletions and duplications that result in gene copy number variation (CNV).
Frank J, Probst +13 more
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Pediatric endocrinology reviews : PER, 2015
Chromosomal microarray analysis (CMA) is a technology used for the detection of clinically-significant microdeietions or duplications, with a high sensitivity for submicroscopic aberrations. It is able to detect changes as small as 5-10Kb in size - a resolution up to 1000 times higher than that of conventional karyotyping.
Nurit Assia, Batzir +2 more
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Chromosomal microarray analysis (CMA) is a technology used for the detection of clinically-significant microdeietions or duplications, with a high sensitivity for submicroscopic aberrations. It is able to detect changes as small as 5-10Kb in size - a resolution up to 1000 times higher than that of conventional karyotyping.
Nurit Assia, Batzir +2 more
openaire +1 more source
CHROMOSOME MICROARRAY ANALYSIS (CMA) DETECTS SUBMICROSCOPIC ABERRATIONS IN INFERTILE MEN
Journal of Urology, 2008Dolores J Lamb, Larry I Lipshultz
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131: Chromosomal microarray analysis (CMA) vs karyotype in the evaluation of early pregnancy loss
American Journal of Obstetrics and Gynecology, 2014Stephanie Romero +6 more
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