Cargando…

High frequency of known copy number abnormalities and maternal duplication 15q11-q13 in patients with combined schizophrenia and epilepsy

BACKGROUND: Many copy number variants (CNVs) are documented to be associated with neuropsychiatric disorders, including intellectual disability, autism, epilepsy, schizophrenia, and bipolar disorder. Chromosomal deletions of 1q21.1, 3q29, 15q13.3, 22q11.2, and NRXN1 and duplications of 15q11-q13 (ma...

Descripción completa

Detalles Bibliográficos
Autores principales:	Stewart, Larissa R, Hall, April L, Kang, Sung-Hae L, Shaw, Chad A, Beaudet, Arthur L
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2011
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3239290/ https://www.ncbi.nlm.nih.gov/pubmed/22118685 http://dx.doi.org/10.1186/1471-2350-12-154

Ejemplares similares

Copy Number Variation of Satellite III (1q12) in Patients With Schizophrenia
por: Ershova, Elizaveta S., et al.
Publicado: (2019)

Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome
por: Bassett, Anne S., et al.
Publicado: (2008)

Recurrent DNA copy number changes in 1q, 4q, 6q, 9p, 13q, 14q and 22q detected by comparative genomic hybridization in malignant mesothelioma.
por: Björkqvist, A. M., et al.
Publicado: (1997)

Evidence that duplications of 22q11.2 protect against schizophrenia
por: Rees, E, et al.
Publicado: (2014)

15q13.3 duplication in two patients with childhood‐onset schizophrenia
por: Zhou, Dale, et al.
Publicado: (2016)

Endocrinopathies in a boy with cryptic copy-number variations on 4q, 7q and Xp
por: Okuno, Misako, et al.
Publicado: (2015)

Increased copy number for methylated maternal 15q duplications leads to changes in gene and protein expression in human cortical samples
por: Scoles, Haley A, et al.
Publicado: (2011)

Laboratory Exercise to Measure Plasmid Copy Number by qPCR
por: David, Benjamin, et al.
Publicado: (2021)

Large scale copy number variation (CNV) at 14q12 is associated with the presence of genomic abnormalities in neoplasia
por: Braude, Ilan, et al.
Publicado: (2006)

Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders
por: Isles, Anthony R., et al.
Publicado: (2016)

1q21.1 Duplication syndrome and epilepsy: Case report and review
por: Gourari, Ioulia, et al.
Publicado: (2018)

Genome-Wide Analysis of Copy Number Variants in Attention Deficit Hyperactivity Disorder: The Role of Rare Variants and Duplications at 15q13.3
por: Williams, Nigel M., et al.
Publicado: (2012)

Search for copy number variants in chromosomes 15q11-q13 and 22q11.2 in obsessive compulsive disorder
por: Delorme, Richard, et al.
Publicado: (2010)

Schizophrenia copy number variants and associative learning
por: Clifton, N E, et al.
Publicado: (2017)

Co-existence of other copy number variations with 22q11.2 deletion or duplication: a modifier for variable phenotypes of the syndrome?
por: Li, Deling, et al.
Publicado: (2012)

Understanding the impact of 1q21.1 copy number variant
por: Harvard, Chansonette, et al.
Publicado: (2011)

Role of chromosome 1q copy number variation in hepatocellular carcinoma
por: Jacobs, Nathan R, et al.
Publicado: (2021)

Prenatal diagnosis of 22q11.2 copy number abnormalities in fetuses via single nucleotide polymorphism array
por: Cai, Meiying, et al.
Publicado: (2020)

Abnormal sleep physiology in children with 15q11.2-13.1 duplication (Dup15q) syndrome
por: Saravanapandian, Vidya, et al.
Publicado: (2021)

qKAT: a high-throughput qPCR method for KIR gene copy number and haplotype determination
por: Jiang, W., et al.
Publicado: (2016)

Definition and refinement of the 7q36.3 duplication region associated with schizophrenia
por: Aleksic, Branko, et al.
Publicado: (2013)

Accuracy in Copy Number Calling by qPCR and PRT: A Matter of DNA
por: Fernandez-Jimenez, Nora, et al.
Publicado: (2011)

Copy Number Variation of Human Satellite III (1q12) With Aging
por: Ershova, Elizaveta S., et al.
Publicado: (2019)

Copy Number Variations and Schizophrenia
por: Szecówka, Kamila, et al.
Publicado: (2022)

Copy number variants and rasopathies: germline KRAS duplication in a patient with syndrome including pigmentation abnormalities
por: Gilbert-Dussardier, Brigitte, et al.
Publicado: (2016)

Copy Number Gains at 8q24 and 20q11-q13 in Gastric Cancer Are More Common in Intestinal-Type than Diffuse-Type
por: Jin, Dong-Hao, et al.
Publicado: (2015)

Cross-species DNA copy number analyses identifies multiple 1q21-q23 subtype-specific driver genes for breast cancer
por: Silva, Grace O., et al.
Publicado: (2015)

Interstitial 6q21q23 duplication - variant of variable phenotype and incomplete penetrance or benign duplication?
por: Srebniak, Malgorzata I., et al.
Publicado: (2016)

Distal 10q trisomy with copy number gain in chromosome region 10q23.1–10q25.1: the Wnt signaling pathway is the most pertinent to the gene content in the region of copy number gain: a case report
por: Wong, Siew-Lee, et al.
Publicado: (2015)

Increased copy number of imprinted genes in the chromosomal region 20q11-q13.32 is associated with resistance to antitumor agents in cancer cell lines
por: Krushkal, Julia, et al.
Publicado: (2022)

1Q12 Loci Movement in the Interphase Nucleus Under the Action of ROS Is an Important Component of the Mechanism That Determines Copy Number Variation of Satellite III (1q12) in Health and Schizophrenia
por: Konkova, Marina Sergeevna, et al.
Publicado: (2020)

The psychiatric phenotype of 15q11.2-q13.3 duplications
por: Budisteanu, M., et al.
Publicado: (2021)

New cytogenetically visible copy number variant in region 8q21.2
por: Manvelyan, Marina, et al.
Publicado: (2011)

DNA Copy Number Changes at 8q11–24 in Metastasized Colorectal Cancer
por: Buffart, T. E., et al.
Publicado: (2005)

Opposing white matter microstructure abnormalities in 22q11.2 deletion and duplication carriers
por: Seitz-Holland, Johanna, et al.
Publicado: (2021)

Failure to detect the 22q11.2 duplication syndrome rearrangement among patients with schizophrenia
por: Brunet, Anna, et al.
Publicado: (2008)

Genomic Copy Number Variations in the Myelodysplastic Syndrome and Acute Myeloid Leukemia Patients with del(5q) and/or -7/del(7q)
por: Zhang, Rui, et al.
Publicado: (2015)

New Copy Number Variations in Schizophrenia
por: Magri, Chiara, et al.
Publicado: (2010)

A Case With 4 de Novo Copy Number Variations With Clinical Features That Overlap 1q43q44 Microdeletion and 3q29 Microduplication Syndromes
por: Kessi, Miriam, et al.
Publicado: (2018)

A Quantitative Electrophysiological Biomarker of Duplication 15q11.2-q13.1 Syndrome
por: Frohlich, Joel, et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_tpvllkgfkcbmvuto19t27bvnan