PubMed for id: 26090

Year	Number of Results
2001	1
2002	1
2003	1
2004	2
2005	1
2007	1
2010	1
2011	2
2012	3
2013	2
2014	3
2015	3
2016	2
2017	9
2018	3
2019	5
2020	6
2021	8
2022	11
2023	4
2024	1

1

The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in ABHD12: An Ophthalmic Perspective.

Nguyen XT, Almushattat H, Strubbe I, Georgiou M, Li CHZ, van Schooneveld MJ, Joniau I, De Baere E, Florijn RJ, Bergen AA, Hoyng CB, Michaelides M, Leroy BP, Boon CJF. Nguyen XT, et al. Genes (Basel). 2021 Sep 11;12(9):1404. doi: 10.3390/genes12091404. Genes (Basel). 2021. PMID: 34573385 Free PMC article.

2

ABHD12 Knockdown Suppresses Breast Cancer Cell Proliferation, Migration and Invasion.

Jun S, Kim SW, Lim JY, Park SJ. Jun S, et al. Anticancer Res. 2020 May;40(5):2601-2611. doi: 10.21873/anticanres.14231. Anticancer Res. 2020. PMID: 32366405

3

A novel ABHD12 nonsense variant in Usher syndrome type 3 family with genotype-phenotype spectrum review.

Li T, Feng Y, Liu Y, He C, Liu J, Chen H, Deng Y, Li M, Li W, Song J, Niu Z, Sang S, Wen J, Men M, Chen X, Li J, Liu X, Ling J. Li T, et al. Gene. 2019 Jul 1;704:113-120. doi: 10.1016/j.gene.2019.04.008. Epub 2019 Apr 8. Gene. 2019. PMID: 30974196 Review.

4

A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature.

Lerat J, Cintas P, Beauvais-Dzugan H, Magdelaine C, Sturtz F, Lia AS. Lerat J, et al. J Peripher Nerv Syst. 2017 Jun;22(2):77-84. doi: 10.1111/jns.12216. J Peripher Nerv Syst. 2017. PMID: 28448692 Review.

5

Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness.

Yoshimura H, Hashimoto T, Murata T, Fukushima K, Sugaya A, Nishio SY, Usami S. Yoshimura H, et al. Ann Otol Rhinol Laryngol. 2015 May;124 Suppl 1:77S-83S. doi: 10.1177/0003489415574513. Epub 2015 Mar 5. Ann Otol Rhinol Laryngol. 2015. PMID: 25743180

6

Discovery of triterpenoids as reversible inhibitors of α/β-hydrolase domain containing 12 (ABHD12).

Parkkari T, Haavikko R, Laitinen T, Navia-Paldanius D, Rytilahti R, Vaara M, Lehtonen M, Alakurtti S, Yli-Kauhaluoma J, Nevalainen T, Savinainen JR, Laitinen JT. Parkkari T, et al. PLoS One. 2014 May 30;9(5):e98286. doi: 10.1371/journal.pone.0098286. eCollection 2014. PLoS One. 2014. PMID: 24879289 Free PMC article.

7

Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.

Nishiguchi KM, Avila-Fernandez A, van Huet RA, Corton M, Pérez-Carro R, Martín-Garrido E, López-Molina MI, Blanco-Kelly F, Hoefsloot LH, van Zelst-Stams WA, García-Ruiz PJ, Del Val J, Di Gioia SA, Klevering BJ, van de Warrenburg BP, Vazquez C, Cremers FP, García-Sandoval B, Hoyng CB, Collin RW, Rivolta C, Ayuso C. Nishiguchi KM, et al. Ophthalmology. 2014 Aug;121(8):1620-7. doi: 10.1016/j.ophtha.2014.02.008. Epub 2014 Mar 31. Ophthalmology. 2014. PMID: 24697911

8

Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effects.

Chen DH, Naydenov A, Blankman JL, Mefford HC, Davis M, Sul Y, Barloon AS, Bonkowski E, Wolff J, Matsushita M, Smith C, Cravatt BF, Mackie K, Raskind WH, Stella N, Bird TD. Chen DH, et al. Hum Mutat. 2013 Dec;34(12):1672-8. doi: 10.1002/humu.22437. Epub 2013 Oct 2. Hum Mutat. 2013. PMID: 24027063 Free PMC article.

9

Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataracts (PHARC) screening in an Italian population.

Criscuolo C, Guacci A, Carbone R, Lieto M, Salsano E, Nanetti L, Michele GD, Filla A. Criscuolo C, et al. Eur J Neurol. 2013 Apr;20(4):e60. doi: 10.1111/ene.12056. Eur J Neurol. 2013. PMID: 23490117 No abstract available.

10

Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3.

Eisenberger T, Slim R, Mansour A, Nauck M, Nürnberg G, Nürnberg P, Decker C, Dafinger C, Ebermann I, Bergmann C, Bolz HJ. Eisenberger T, et al. Orphanet J Rare Dis. 2012 Sep 2;7:59. doi: 10.1186/1750-1172-7-59. Orphanet J Rare Dis. 2012. PMID: 22938382 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

65 results

Results by year