Phenotypic consequences of gene disruption by a balanced de novo translocation involving SLC6A1 and NAA15-Reference-Cited by-同舟云学术

Phenotypic consequences of gene disruption by a balanced de novo translocation involving SLC6A1 and NAA15

Published:2018-10 Issue:10 Volume:61 Page:596-601
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Pesz Karolina,Pienkowski Victor Murcia,Pollak Agnieszka,Gasperowicz Piotr,Sykulski Maciej,Kosińska Joanna,Kiszko Magdalena,Krzykwa Bogusława,Bartnik-Głaska Magdalena,Nowakowska Beata,Rydzanicz Małgorzata,Sasiadek Maria Małgorzata,Płoski Rafał

Funder

National Science Centre (NCN)

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference19 articles.

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2. NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment;Casey;Sci. Rep.,2015

3. CL K. Online Mendelian Inheritance in Man. Entry #616421. Myoclonic-atonic epilepsy. http://omim.org/entry/616421. Published June 15, 2015. Accessed November 11, 2016.

4. Enhanced tonic GABAA inhibition in typical absence epilepsy;Cope;Nat. Med.,2009

5. Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients;De Gregori;J. Med. Genet.,2007

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1. A Natural History ofNAA15-related Neurodevelopmental Disorder Through Adolescence;2024-04-22

2. A case of epilepsy with myoclonic atonic seizures caused by SLC6A1 gene mutation due to balanced chromosomal translocation;Brain and Development;2023-08

3. De novo balanced reciprocal translocation mosaic t(1;3)(q42;q25) detected by prenatal genetic diagnosis: a fetus conceived using preimplantation genetic testing due to a t(12;14)(q22;q13) balanced paternal reciprocal translocation;Molecular Cytogenetics;2021-12