Cargando…

Neurodevelopmental Genetic Diseases Associated With Microdeletions and Microduplications of Chromosome 17p13.3

Chromosome 17p13.3 is a region of genomic instability that is linked to different rare neurodevelopmental genetic diseases, depending on whether a deletion or duplication of the region has occurred. Chromosome microdeletions within 17p13.3 can result in either isolated lissencephaly sequence (ILS) o...

Descripción completa

Detalles Bibliográficos
Autores principales:	Blazejewski, Sara M., Bennison, Sarah A., Smith, Trevor H., Toyo-oka, Kazuhito
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2018
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5876250/ https://www.ncbi.nlm.nih.gov/pubmed/29628935 http://dx.doi.org/10.3389/fgene.2018.00080

Ejemplares similares

Responsible Genes for Neuronal Migration in the Chromosome 17p13.3: Beyond Pafah1b1(Lis1), Crk and Ywhae(14-3-3ε)
por: Liu, Xiaonan, et al.
Publicado: (2021)

Correction: Liu et al. Responsible Genes for Neuronal Migration in the Chromosome 17p13.3: Beyond Pafah1b1(Lis1), Crk and Ywhae(14-3-3ε). Brain Sci. 2022, 12, 56
por: Liu, Xiaonan, et al.
Publicado: (2022)

High-throughput kinase inhibitor screening reveals roles for Aurora and Nuak kinases in neurite initiation and dendritic branching
por: Blazejewski, Sara M., et al.
Publicado: (2021)

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

Prenatal Diagnosis of Microdeletions or Microduplications in the Proximal, Central, and Distal Regions of Chromosome 22q11.2: Ultrasound Findings and Pregnancy Outcome
por: Li, Shuyuan, et al.
Publicado: (2019)

Refining the Clinical Spectrum of the 17p13.3 Microduplication Syndrome: Case-Report of a Familial Small Microduplication
por: Da Silva, Jorge Diogo, et al.
Publicado: (2022)

Chromosome 12q13.13q13.13 microduplication and microdeletion: a case report and literature review
por: Hu, Jie, et al.
Publicado: (2017)

Investigating Genetic Factors Contributing to Variable Expressivity of Class I 17p13.3 Microduplication
por: Tolezano, Giovanna Cantini, et al.
Publicado: (2020)

OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome
por: Uddin, Mohammed, et al.
Publicado: (2018)

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

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

A Case of Class I 17p13.3 Microduplication Syndrome with Unilateral Hearing Loss
por: Vittas, Spiros, et al.
Publicado: (2023)

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)

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

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

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

A Novel 12q13.2-q13.3 Microdeletion Syndrome With Combined Features of Diamond Blackfan Anemia, Pierre Robin Sequence and Klippel Feil Deformity
por: Roberti, Domenico, et al.
Publicado: (2018)

Rapid-Onset Obesity Due to Impulsive Food-Seeking Behavior in a Puerto Rican Child With CHRNA7 15q13.3 Microdeletion
por: Jiménez, Brian L, et al.
Publicado: (2021)

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

7q35 Microdeletion and 15q13.3 and Xp22.33 Microduplications in a Patient with Severe Myoclonic Epilepsy, Microcephaly, Dysmorphisms, Severe Psychomotor Delay and Intellectual Disability
por: Paduano, Francesco, et al.
Publicado: (2020)

Identification of microduplications at Xp21.2 and Xq13.1 in neurodevelopmental disorders
por: Kokkonen, Hannaleena, et al.
Publicado: (2021)

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

16p13.11 microdeletion/microduplication in fetuses: investigation of associated ultrasound phenotypes, genetic anomalies, and pregnancy outcome follow-up
por: Cai, Meiying, et al.
Publicado: (2022)

Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: Further delineation of the 17p13.3 microdeletion spectrum
por: Emrick, Lisa T., et al.
Publicado: (2018)

A new case of 17p13.3p13.1 microduplication resulted from unbalanced translocation: clinical and molecular cytogenetic characterization
por: Markova, Zhanna G., et al.
Publicado: (2021)

Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability
por: Antonacci, Francesca, et al.
Publicado: (2014)

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

Novel Microdeletion in the X Chromosome Leads to Kallmann Syndrome, Ichthyosis, Obesity, and Strabismus
por: Ma, Wanlu, et al.
Publicado: (2020)

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)

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

Chipping away at the common epilepsies with complex genetics: the 15q13.3 microdeletion shows the way
por: Mulley, John C, et al.
Publicado: (2009)

Ocular Manifestations of a Novel Proximal 19p13.3 Microdeletion
por: Swan, L., et al.
Publicado: (2018)

An Unusual Psychiatric Presentation of the 3q29 Microduplication Syndrome
por: Reis, Filipa, et al.
Publicado: (2020)

Correction: Sciacca, F. L., et al. Microduplication of 15q13.3 and Microdeletion of 18q21.32 in a Patient with Moyamoya Syndrome. Int. J. Mol. Sci. 2018, 19, 3675
por: Sciacca, Francesca Luisa, et al.
Publicado: (2019)

Parental Imbalances Involving Chromosomes 15q and 22q May Predispose to the Formation of De Novo Pathogenic Microdeletions and Microduplications in the Offspring
por: Capra, Valeria, et al.
Publicado: (2013)

Noninvasive prenatal testing for chromosome aneuploidies and subchromosomal microdeletions/microduplications in a cohort of 42,910 single pregnancies with different clinical features
por: Chen, Yibo, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_mcdtpl2jng89p4na505eastnfn