Cargando…

Chromosomal Microarray Analysis in Clinical Evaluation of Neurodevelopmental Disorders-Reporting a Novel Deletion of SETDB1 and Illustration of Counseling Challenge

BACKGROUND: The pathogenicity of copy number variations (CNV) in neurodevelopmental disorders is well supported by research literature. However, few studies have evaluated the utility and counseling challenges of CNV analysis in the clinic. METHODS: We analyzed the findings of CNV studies from a coh...

Descripción completa

Detalles Bibliográficos
Autores principales:	Xu, Qiong, Goldstein, Jennifer, Wang, Ping, Gadi, Inder K., Labreche, Heather, Rehder, Catherine, Wang, Wei-Ping, McConkie, Allyn, Xu, Xiu, Jiang, Yong-hui
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	2016
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5382808/ https://www.ncbi.nlm.nih.gov/pubmed/27119313 http://dx.doi.org/10.1038/pr.2016.101

Ejemplares similares

Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males
por: Kreienkamp, Hans-Jürgen, et al.
Publicado: (2021)

Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses
por: Schoch, Kelly, et al.
Publicado: (2020)

The importance of managing the patient and not the gene: expanded phenotype of GLE1-associated arthrogryposis
por: Tan, Queenie K.-G., et al.
Publicado: (2017)

Drosophila SETDB1 Is Required for Chromosome 4 Silencing
por: Seum, Carole, et al.
Publicado: (2007)

Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked AIFM1 variant
por: Moss, Tonya, et al.
Publicado: (2021)

Parental perspectives of episodic irritability in an ultra-rare genetic disorder associated with NACC1
por: Schoch, Kelly, et al.
Publicado: (2023)

A Comprehensive Iterative Approach is Highly Effective in Diagnosing Individuals who are Exome Negative
por: Shashi, Vandana, et al.
Publicado: (2018)

SETDB1-Mediated Silencing of Retroelements
por: Fukuda, Kei, et al.
Publicado: (2020)

SETDB1 regulates microtubule dynamics
por: Hernandez‐Vicens, Rosari, et al.
Publicado: (2022)

A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network
por: Spillmann, Rebecca C., et al.
Publicado: (2017)

High performing male with fragile X syndrome with an unmethylated FMR1 full mutation: The relevance of clinical and genetic correlations
por: Shieh, Meg, et al.
Publicado: (2023)

Clinical Performance of an Ultrahigh Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders
por: Ho, Karen S., et al.
Publicado: (2016)

Emerging roles of H3K9me3, SETDB1 and SETDB2 in therapy-induced cellular reprogramming
por: Torrano, Joachim, et al.
Publicado: (2019)

Chromosomal microarray in postnatal diagnosis of congenital anomalies and neurodevelopmental disorders in Serbian patients
por: Perovic, Dijana, et al.
Publicado: (2022)

Chromosomal Microarray Analysis of Consecutive Individuals with Autism Spectrum Disorders Using an Ultra-High Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders
por: Ho, Karen S., et al.
Publicado: (2016)

Structure, Activity and Function of the SETDB1 Protein Methyltransferase
por: Markouli, Mariam, et al.
Publicado: (2021)

Hypoxia stabilizes SETDB1 to maintain genome stability
por: Park, Sungryul, et al.
Publicado: (2023)

Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression
por: Lowther, Chelsea, et al.
Publicado: (2016)

Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil
por: Krepischi, Ana C. V., et al.
Publicado: (2022)

SETDB1 Links the Meiotic DNA Damage Response to Sex Chromosome Silencing in Mice
por: Hirota, Takayuki, et al.
Publicado: (2018)

The Updating of Biological Functions of Methyltransferase SETDB1 and Its Relevance in Lung Cancer and Mesothelioma
por: Yuan, Li, et al.
Publicado: (2021)

SETDB1 promotes the progression of colorectal cancer via epigenetically silencing p21 expression
por: Cao, Nan, et al.
Publicado: (2020)

The SETDB1 histone methyltransferase is recurrently amplified in and accelerates melanoma
por: Ceol, Craig J., et al.
Publicado: (2011)

SETDB1-dependent heterochromatin stimulates alternative lengthening of telomeres
por: Gauchier, Mathilde, et al.
Publicado: (2019)

Oncogenic roles of the SETDB2 histone methyltransferase in gastric cancer
por: Nishikawaji, Taketo, et al.
Publicado: (2016)

Epigenetic mechanism of SETDB1 in brain: implications for neuropsychiatric disorders
por: Zhu, Yueyan, et al.
Publicado: (2020)

Atypical deletion of Williams–Beuren syndrome reveals the mechanism of neurodevelopmental disorders
por: Zhou, Jianrong, et al.
Publicado: (2022)

Understanding Adult Participant and Parent Empowerment Prior to Evaluation in the Undiagnosed Diseases Network
por: Palmer, Christina G. S., et al.
Publicado: (2018)

Histone methyltransferase SETDB1 is required for prostate cancer cell proliferation, migration and invasion
por: Sun, Yi, et al.
Publicado: (2014)

Binding of SU(VAR)3-9 Partially Depends on SETDB1 in the Chromosomes of Drosophila melanogaster
por: Maksimov, Daniil A., et al.
Publicado: (2019)

SETDB1 Is Involved in Postembryonic DNA Methylation and Gene Silencing in Drosophila
por: Gou, Dawei, et al.
Publicado: (2010)

The methyltransferase Setdb2 mediates virus-induced susceptibility to bacterial superinfection
por: Schliehe, Christopher, et al.
Publicado: (2014)

Maternal Setdb1 Is Required for Meiotic Progression and Preimplantation Development in Mouse
por: Kim, Jeesun, et al.
Publicado: (2016)

SETDB-1: A Potential Epigenetic Regulator in Breast Cancer Metastasis
por: Batham, Jacob, et al.
Publicado: (2019)

SETDB1 regulates SMAD7 expression for breast cancer metastasis
por: Ryu, Tae Young, et al.
Publicado: (2019)

SETDB1 is required for intestinal epithelial differentiation and the prevention of intestinal inflammation
por: Južnić, Lea, et al.
Publicado: (2021)

Coronavirus induces diabetic macrophage-mediated inflammation via SETDB2
por: Melvin, William J., et al.
Publicado: (2021)

Increased Expression of SETDB1 Predicts Poor Prognosis in Multiple Myeloma
por: Xiang, Jing, et al.
Publicado: (2022)

Role of histone methyltransferase SETDB1 in regulation of tumourigenesis and immune response
por: Zhao, Zhipeng, et al.
Publicado: (2022)

Functional dissection of N-terminal nuclear trafficking signals of SETDB1
por: Eom, Jaemin, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_7gi5d7t4s6be54ovdp90r3r9cf