Similar articles for PMID: 24357517

Year	Number of Results
1994	2
1996	1
1999	1
2001	4
2009	1
2010	2
2011	3
2012	4
2013	10
2014	13
2015	9
2016	10
2017	15
2018	5
2019	7
2020	17
2021	6
2022	4
2023	3
2024	0

1

Early frameshift mutation in PIGA identified in a large XLID family without neonatal lethality.

Belet S, Fieremans N, Yuan X, Van Esch H, Verbeeck J, Ye Z, Cheng L, Brodsky BR, Hu H, Kalscheuer VM, Brodsky RA, Froyen G. Belet S, et al. Hum Mutat. 2014 Mar;35(3):350-5. doi: 10.1002/humu.22498. Epub 2014 Jan 13. Hum Mutat. 2014. PMID: 24357517

2

Drosophila models of PIGA-CDG mirror patient phenotypes.

Thorpe HJ, Owings KG, Aziz MC, Haller M, Coelho E, Chow CY. Thorpe HJ, et al. bioRxiv [Preprint]. 2023 Oct 27:2023.10.27.564441. doi: 10.1101/2023.10.27.564441. bioRxiv. 2023. Update in: G3 (Bethesda). 2024 Mar 6;14(3):jkad291. doi: 10.1093/g3journal/jkad291. PMID: 37961693 Free PMC article. Updated. Preprint.

3

Congenital diaphragmatic hernia in siblings with PIGA-related congenital disorder of glycosylation.

Crenshaw MM, Thompson L, Piqué DG, Micke K, Saenz M, Baker PR 2nd. Crenshaw MM, et al. Am J Med Genet A. 2023 Dec;191(12):2860-2867. doi: 10.1002/ajmg.a.63373. Epub 2023 Aug 17. Am J Med Genet A. 2023. PMID: 37589195

4

ZDHHC9 X-linked intellectual disability: Clinical and molecular characterization.

Ramos AKS, Caldas-Rosa ECC, Ferreira BM, Versiani BR, Moretti PN, de Oliveira SF, Pic-Taylor A, Mazzeu JF. Ramos AKS, et al. Am J Med Genet A. 2023 Feb;191(2):599-604. doi: 10.1002/ajmg.a.63052. Epub 2022 Nov 23. Am J Med Genet A. 2023. PMID: 36416207

5

Case report: Functional characterization of a de novo c.145G>A p.Val49Met pathogenic variant in a case of PIGA-CDG with megacolon.

Salinas-Marín R, Murakami Y, González-Domínguez CA, Cruz-Muñoz ME, Mora-Montes HM, Morava E, Kinoshita T, Monroy-Santoyo S, Martínez-Duncker I. Salinas-Marín R, et al. Front Genet. 2022 Oct 17;13:971473. doi: 10.3389/fgene.2022.971473. eCollection 2022. Front Genet. 2022. PMID: 36324500 Free PMC article.

6

The correlation between multiple congenital anomalies hypotonia seizures syndrome 2 and PIGA: a case of novel PIGA germline variant and literature review.

Liu X, Meng J, Ma J, Shu J, Gu C, Chen X, Li D, Cai C. Liu X, et al. Mol Biol Rep. 2022 Nov;49(11):10469-10477. doi: 10.1007/s11033-022-07614-8. Epub 2022 Sep 18. Mol Biol Rep. 2022. PMID: 36116096 Review.

7

WDR13: A Novel Gene Implicated in Non-Syndromic Intellectual Disability.

Rzońca-Niewczas S, Wierzba J, Kaczorowska E, Poryszewska M, Kosińska J, Stawiński P, Płoski R, Bal J. Rzońca-Niewczas S, et al. Genes (Basel). 2021 Nov 28;12(12):1911. doi: 10.3390/genes12121911. Genes (Basel). 2021. PMID: 34946860 Free PMC article.

8

Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.

Kreienkamp HJ, Wagner M, Weigand H, McConkie-Rossell A, McDonald M, Keren B, Mignot C, Gauthier J, Soucy JF, Michaud JL, Dumas M, Smith R, Löbel U, Hempel M, Kubisch C, Denecke J, Campeau PM, Bain JM, Lessel D. Kreienkamp HJ, et al. Hum Genet. 2022 Feb;141(2):257-272. doi: 10.1007/s00439-021-02412-x. Epub 2021 Dec 14. Hum Genet. 2022. PMID: 34907471 Free PMC article.

9

PIGA Mutations Can Mimic Neonatal Hemochromatosis.

Flores-Torres J, Carver JD, Sanchez-Valle A. Flores-Torres J, et al. Pediatrics. 2021 Mar;147(3):e20200918. doi: 10.1542/peds.2020-0918. Pediatrics. 2021. PMID: 33632934

10

Application of counter-selectable marker PIGA in engineering designer deletion cell lines and characterization of CRISPR deletion efficiency.

Li D, Sun X, Yu F, Perle MA, Araten D, Boeke JD. Li D, et al. Nucleic Acids Res. 2021 Mar 18;49(5):2642-2654. doi: 10.1093/nar/gkab035. Nucleic Acids Res. 2021. PMID: 33591308 Free PMC article.

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