Acute lymphoblastic leukemia in a child with a de novo germline gnb1 mutation
- PMID: 27759915
- DOI: 10.1002/ajmg.a.38026
Acute lymphoblastic leukemia in a child with a de novo germline gnb1 mutation
Similar articles
-
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.Am J Hum Genet. 2016 May 5;98(5):1001-1010. doi: 10.1016/j.ajhg.2016.03.011. Epub 2016 Apr 21. Am J Hum Genet. 2016. PMID: 27108799 Free PMC article.
-
Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans.Hum Mol Genet. 2017 Mar 15;26(6):1078-1086. doi: 10.1093/hmg/ddx018. Hum Mol Genet. 2017. PMID: 28087732 Free PMC article.
-
Exome reports A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic features.Eur J Med Genet. 2020 Apr;63(4):103804. doi: 10.1016/j.ejmg.2019.103804. Epub 2019 Nov 4. Eur J Med Genet. 2020. PMID: 31698099
-
Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.Am J Med Genet A. 2018 Nov;176(11):2259-2275. doi: 10.1002/ajmg.a.40472. Epub 2018 Sep 8. Am J Med Genet A. 2018. PMID: 30194818 Review.
-
Emanuel Syndrome (ES): new case-report and review of the literature.Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2015;36(1):205-8. Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2015. PMID: 26076791 Review.
Cited by
-
G Protein Subunit β1 Facilitates Influenza A Virus Replication by Promoting the Nuclear Import of PB2.J Virol. 2022 Jun 22;96(12):e0049422. doi: 10.1128/jvi.00494-22. Epub 2022 May 23. J Virol. 2022. PMID: 35604143 Free PMC article.
-
Subtype-dependent regulation of Gβγ signalling.Cell Signal. 2021 Jun;82:109947. doi: 10.1016/j.cellsig.2021.109947. Epub 2021 Feb 11. Cell Signal. 2021. PMID: 33582184 Free PMC article. Review.
-
Clinical characterization of familial 1p36.3 microduplication.Neurogenetics. 2023 Jul;24(3):201-208. doi: 10.1007/s10048-023-00722-y. Epub 2023 Jun 8. Neurogenetics. 2023. Retraction in: Neurogenetics. 2024 Jan;25(1):49. doi: 10.1007/s10048-023-00735-7. PMID: 37289317 Free PMC article. Retracted.
-
The possible association of two novel heterozygous GNB1 variants with obesity and metabolic disorders.Hormones (Athens). 2024 Nov 25. doi: 10.1007/s42000-024-00615-1. Online ahead of print. Hormones (Athens). 2024. PMID: 39581956 Review.
-
Deletion in 1p36.33-p36.32 is associated with pancytopenia: a case report.BMC Med Genomics. 2023 Nov 9;16(1):282. doi: 10.1186/s12920-023-01723-4. BMC Med Genomics. 2023. PMID: 37946214 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical