PubMed for id: 96563

Year	Number of Results
1984	2
1988	1
1990	1
1993	2
1994	1
1997	1
1998	1
2001	1
2005	1
2006	3
2007	3
2008	3
2009	2
2010	1
2013	1
2015	1
2016	4
2017	5
2018	9
2019	6
2020	4
2021	9
2022	8
2023	8
2024	5

1

GLSP and GLSP-derived triterpenes attenuate atherosclerosis and aortic calcification by stimulating ABCA1/G1-mediated macrophage cholesterol efflux and inactivating RUNX2-mediated VSMC osteogenesis.

Zheng G, Zhao Y, Li Z, Hua Y, Zhang J, Miao Y, Guo Y, Li L, Shi J, Dong Z, Yang S, Fan G, Ma C. Zheng G, et al. Theranostics. 2023 Feb 21;13(4):1325-1341. doi: 10.7150/thno.80250. eCollection 2023. Theranostics. 2023. PMID: 36923537 Free PMC article.

2

A Case of Gillespie Syndrome With Atypical Presentation.

Singh G, Narahari S. Singh G, et al. Cureus. 2022 Nov 10;14(11):e31341. doi: 10.7759/cureus.31341. eCollection 2022 Nov. Cureus. 2022. PMID: 36514658 Free PMC article.

3

Gillespie syndrome: An atypical form and review of the literature.

Nabih O, Hamdani H, ELMaaloum L, Allali B, ELkettani A. Nabih O, et al. Ann Med Surg (Lond). 2022 Jan 8;74:103244. doi: 10.1016/j.amsu.2022.103244. eCollection 2022 Feb. Ann Med Surg (Lond). 2022. PMID: 35070290 Free PMC article.

4

A novel de novo intronic variant in ITPR1 causes Gillespie syndrome.

Keehan L, Jiang MM, Li X, Marom R, Dai H, Murdock D, Liu P, Hunter JV, Heaney JD, Robak L, Emrick L, Lotze T, Blieden LS; Undiagnosed Diseases Network; Lewis RA, Levin AV, Capasso J, Craigen WJ, Rosenfeld JA, Lee B, Burrage LC. Keehan L, et al. Am J Med Genet A. 2021 Aug;185(8):2315-2324. doi: 10.1002/ajmg.a.62232. Epub 2021 May 5. Am J Med Genet A. 2021. PMID: 33949769 Free PMC article.

5

Gillespie syndrome in a South Asian child: a case report with confirmation of a heterozygous mutation of the ITPR1 gene and review of the clinical and molecular features.

De Silva D, Williamson KA, Dayasiri KC, Suraweera N, Quinters V, Abeysekara H, Wanigasinghe J, De Silva D, De Silva H. De Silva D, et al. BMC Pediatr. 2018 Sep 24;18(1):308. doi: 10.1186/s12887-018-1286-5. BMC Pediatr. 2018. PMID: 30249237 Free PMC article.

6

The genetic architecture of aniridia and Gillespie syndrome.

Hall HN, Williamson KA, FitzPatrick DR. Hall HN, et al. Hum Genet. 2019 Sep;138(8-9):881-898. doi: 10.1007/s00439-018-1934-8. Epub 2018 Sep 22. Hum Genet. 2019. PMID: 30242502 Free PMC article. Review.

7

A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome.

Paganini L, Pesenti C, Milani D, Fontana L, Motta S, Sirchia SM, Scuvera G, Marchisio P, Esposito S, Cinnante CM, Tabano SM, Miozzo MR. Paganini L, et al. Am J Med Genet A. 2018 Jun;176(6):1427-1431. doi: 10.1002/ajmg.a.38704. Epub 2018 Apr 16. Am J Med Genet A. 2018. PMID: 29663667

8

Additional features of Gillespie syndrome in two Brazilian siblings with a novel ITPR1 homozygous pathogenic variant.

Carvalho DR, Medeiros JEG, Ribeiro DSM, Martins BJAF, Sobreira NLM. Carvalho DR, et al. Eur J Med Genet. 2018 Mar;61(3):134-138. doi: 10.1016/j.ejmg.2017.11.005. Epub 2017 Nov 21. Eur J Med Genet. 2018. PMID: 29169895

9

Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome.

Dentici ML, Barresi S, Nardella M, Bellacchio E, Alfieri P, Bruselles A, Pantaleoni F, Danieli A, Iarossi G, Cappa M, Bertini E, Tartaglia M, Zanni G. Dentici ML, et al. Gene. 2017 Sep 10;628:141-145. doi: 10.1016/j.gene.2017.07.017. Epub 2017 Jul 8. Gene. 2017. PMID: 28698159 Free PMC article.

10

Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome.

Ansari M, Rainger J, Hanson IM, Williamson KA, Sharkey F, Harewood L, Sandilands A, Clayton-Smith J, Dollfus H, Bitoun P, Meire F, Fantes J, Franco B, Lorenz B, Taylor DS, Stewart F, Willoughby CE, McEntagart M, Khaw PT, Clericuzio C, Van Maldergem L, Williams D, Newbury-Ecob R, Traboulsi EI, Silva ED, Madlom MM, Goudie DR, Fleck BW, Wieczorek D, Kohlhase J, McTrusty AD, Gardiner C, Yale C, Moore AT, Russell-Eggitt I, Islam L, Lees M, Beales PL, Tuft SJ, Solano JB, Splitt M, Hertz JM, Prescott TE, Shears DJ, Nischal KK, Doco-Fenzy M, Prieur F, Temple IK, Lachlan KL, Damante G, Morrison DA, van Heyningen V, FitzPatrick DR. Ansari M, et al. PLoS One. 2016 Apr 28;11(4):e0153757. doi: 10.1371/journal.pone.0153757. eCollection 2016. PLoS One. 2016. PMID: 27124303 Free PMC article.

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