Cargando…

Microdeletion and Microduplication Analysis of Chinese Conotruncal Defects Patients with Targeted Array Comparative Genomic Hybridization

OBJECTIVE: The current study aimed to develop a reliable targeted array comparative genomic hybridization (aCGH) to detect microdeletions and microduplications in congenital conotruncal defects (CTDs), especially on 22q11.2 region, and for some other chromosomal aberrations, such as 5p15-5p, 7q11.23...

Descripción completa

Detalles Bibliográficos
Autores principales:	Gong, Xiaohui, Wu, Xi, Ma, Xiaojing, Wu, Dandan, Zhang, Ting, He, Li, Qin, Shengying, Li, Xiaotian
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2013
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3788710/ https://www.ncbi.nlm.nih.gov/pubmed/24098474 http://dx.doi.org/10.1371/journal.pone.0076314

Ejemplares similares

A rare mosaic 22q11.2 microdeletion identified in a Chinese family with recurrent fetal conotruncal defects
por: Chen, Weicheng, et al.
Publicado: (2019)

New microdeletion and microduplication syndromes: A comprehensive review
por: Nevado, Julián, et al.
Publicado: (2014)

Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR
por: Tai, Derek J. C., et al.
Publicado: (2016)

A comprehensive list of human microdeletion and microduplication syndromes
por: Wetzel, Alyssa S., et al.
Publicado: (2022)

Microdeletions and microduplications linked to severe congenital disorders in infertile men
por: Kikas, Triin, et al.
Publicado: (2023)

Clinical delineation of 18q11‐q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defects
por: Rojnueangnit, Kitiwan, et al.
Publicado: (2019)

Neuroendocrine tumors and conotruncal cardiac defects
por: Martínez-Quintana, Efrén, et al.
Publicado: (2018)

Novel mutations of the SRF gene in Chinese sporadic conotruncal heart defect patients
por: Mengmeng, Xu, et al.
Publicado: (2020)

Clinical and molecular cytogenetic analyses of four families with 1q21.1 microdeletion or microduplication
por: Wang, Hong‐Dan, et al.
Publicado: (2017)

"Familial" versus "Sporadic" intellectual disability: contribution of common microdeletion and microduplication syndromes
por: Rafati, Maryam, et al.
Publicado: (2012)

Efficiency of noninvasive prenatal testing for the detection of fetal microdeletions and microduplications in autosomal chromosomes
por: Pei, Yuanyuan, et al.
Publicado: (2020)

Distinctive Skeletal Abnormalities With No Microdeletions or Microduplications on Array-CGH in a Boy With Mohr Syndrome (Oro-Facial-Digital Type II)
por: Kaissi, Ali Al, et al.
Publicado: (2015)

Noninvasive prenatal testing for chromosome aneuploidies and subchromosomal microdeletions/microduplications in a cohort of 8141 single pregnancies
por: Hu, Hua, et al.
Publicado: (2019)

Genetic variation in folate metabolism is associated with the risk of conotruncal heart defects in a Chinese population
por: Wang, Xike, et al.
Publicado: (2018)

Placental DNA Methylation Abnormalities in Prenatal Conotruncal Heart Defects
por: Liu, Jingjing, et al.
Publicado: (2022)

Prenatal phenotypes and pregnancy outcomes of fetuses with recurrent 1q21.1 microdeletions and microduplications
por: Yue, Fagui, et al.
Publicado: (2023)

Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication
por: Ballif, Blake C, et al.
Publicado: (2008)

Simple, Rapid and Inexpensive Quantitative Fluorescent PCR Method for Detection of Microdeletion and Microduplication Syndromes
por: Stofanko, Martin, et al.
Publicado: (2013)

Neurodevelopmental Genetic Diseases Associated With Microdeletions and Microduplications of Chromosome 17p13.3
por: Blazejewski, Sara M., et al.
Publicado: (2018)

Investigation of Chromosomal Abnormalities and Microdeletion/ Microduplication(s) in Fifty Iranian Patients with Multiple Congenital Anomalies
por: Mohammadzadeh, Akbar, et al.
Publicado: (2019)

12q14 microduplication: a new clinical entity reciprocal to the microdeletion syndrome?
por: Dória, Sofia, et al.
Publicado: (2020)

Gene‐by‐gene interactions associated with the risk of conotruncal heart defects
por: Lyu, Chen, et al.
Publicado: (2019)

Evaluation of the clinical utility of extended non-invasive prenatal testing in the detection of chromosomal aneuploidy and microdeletion/microduplication
por: Tian, Weifang, et al.
Publicado: (2023)

Behavioral abnormalities are common and severe in patients with distal 22q11.2 microdeletions and microduplications
por: Lindgren, Valerie, et al.
Publicado: (2015)

Prenatal diagnosis of 17q12 microdeletion and microduplication syndrome in fetuses with congenital renal abnormalities
por: Wan, Shanning, et al.
Publicado: (2019)

A report on seven fetal cases associated with 15q11‐q13 microdeletion and microduplication
por: Huang, Xiuzhu, et al.
Publicado: (2021)

Investigation of Copy Number Variation in Children with Conotruncal Heart Defects
por: Campos, Carla Marques Rondon, et al.
Publicado: (2015)

Cytogenomic Evaluation of Subjects with Syndromic and Nonsyndromic Conotruncal Heart Defects
por: de Souza, Karen Regina, et al.
Publicado: (2015)

Genetic Imbalances in Argentinean Patients with Congenital Conotruncal Heart Defects
por: Delea, Marisol, et al.
Publicado: (2018)

Abnormal Biomarkers of Homocysteine Metabolism in Neonates with Conotruncal Heart Defects
por: Surmiak, Piotr, et al.
Publicado: (2017)

Common Variation in Cytoskeletal Genes Is Associated with Conotruncal Heart Defects
por: Musfee, Fadi I., et al.
Publicado: (2021)

The Identification of Microdeletion and Reciprocal Microduplication in 22q11.2 Using High-Resolution CMA Technology
por: Leite, Ana Julia Cunha, et al.
Publicado: (2016)

Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients
por: León, Luis E., et al.
Publicado: (2017)

Gene expression in cardiac tissues from infants with idiopathic conotruncal defects
por: Bittel, Douglas C, et al.
Publicado: (2011)

Molecular and Genetic Insights into Thoracic Aortic Dilation in Conotruncal Heart Defects
por: Kay, W. Aaron
Publicado: (2016)

Microduplication of 15q13.3 and Microdeletion of 18q21.32 in a Patient with Moyamoya Syndrome
por: Luisa, Sciacca Francesca, et al.
Publicado: (2018)

Mouse models of 17q21.31 microdeletion and microduplication syndromes highlight the importance of Kansl1 for cognition
por: Arbogast, Thomas, et al.
Publicado: (2017)

Quantitative Proteomic Analysis of Serum from Pregnant Women Carrying a Fetus with Conotruncal Heart Defect Using Isobaric Tags for Relative and Absolute Quantitation (iTRAQ) Labeling
por: Zhang, Ying, et al.
Publicado: (2014)

Detecting 22q11.2 deletion in Chinese children with conotruncal heart defects and single nucleotide polymorphisms in the haploid TBX1 locus
por: Xu, Yue-Juan, et al.
Publicado: (2011)

Gene-Gene Interactions in the Folate Metabolic Pathway and the Risk of Conotruncal Heart Defects
por: Lupo, Philip J., et al.
Publicado: (2010)

Cannot write session to /tmp/vufind_sessions/sess_frej6iqju4nlu78s071c2fgv2l