PubMed (Bookshelf cited) for id: 442876

Year	Number of Results
1997	2
1998	1
2000	1
2002	1
2004	1
2005	3
2006	3
2007	3
2008	1
2009	3
2010	3
2011	1
2012	7
2014	2
2015	5
2016	5
2017	8
2018	6
2019	9
2020	3
2021	3
2022	2
2024	0

1

Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care.

Pirozzi F, Berkseth M, Shear R, Gonzalez L, Timms AE, Sulc J, Pao E, Oyama N, Forzano F, Conti V, Guerrini R, Doherty ES, Saitta SC, Lockwood CM, Pritchard CC, Dobyns WB, Novotny E, Wright JNN, Saneto RP, Friedman S, Hauptman J, Ojemann J, Kapur RP, Mirzaa GM. Pirozzi F, et al. Brain. 2022 Apr 29;145(3):925-938. doi: 10.1093/brain/awab376. Brain. 2022. PMID: 35355055 Free PMC article.

2

A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement.

Douzgou S, Rawson M, Baselga E, Danielpour M, Faivre L, Kashanian A, Keppler-Noreuil KM, Kuentz P, Mancini GMS, Maniere MC, Martinez-Glez V, Parker VE, Semple RK, Srivastava S, Vabres P, De Wit MY, Graham JM Jr, Clayton-Smith J, Mirzaa GM, Biesecker LG. Douzgou S, et al. Clin Genet. 2022 Jan;101(1):32-47. doi: 10.1111/cge.14027. Epub 2021 Jul 16. Clin Genet. 2022. PMID: 34240408 Free PMC article. Review.

3

A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations.

Canaud G, Hammill AM, Adams D, Vikkula M, Keppler-Noreuil KM. Canaud G, et al. Orphanet J Rare Dis. 2021 Jul 8;16(1):306. doi: 10.1186/s13023-021-01929-8. Orphanet J Rare Dis. 2021. PMID: 34238334 Free PMC article. Review.

4

Hypoglycemia due to PI3K/AKT/mTOR signaling pathway defects: two novel cases and review of the literature.

Maines E, Franceschi R, Martinelli D, Soli F, Lepri FR, Piccoli G, Soffiati M. Maines E, et al. Hormones (Athens). 2021 Dec;20(4):623-640. doi: 10.1007/s42000-021-00287-1. Epub 2021 Apr 20. Hormones (Athens). 2021. PMID: 33876391 Review.

5

New and Emerging Targeted Therapies for Vascular Malformations.

Van Damme A, Seront E, Dekeuleneer V, Boon LM, Vikkula M. Van Damme A, et al. Am J Clin Dermatol. 2020 Oct;21(5):657-668. doi: 10.1007/s40257-020-00528-w. Am J Clin Dermatol. 2020. PMID: 32557381 Review.

6

Theranostic Advances in Vascular Malformations.

Dekeuleneer V, Seront E, Van Damme A, Boon LM, Vikkula M. Dekeuleneer V, et al. J Invest Dermatol. 2020 Apr;140(4):756-763. doi: 10.1016/j.jid.2019.10.001. J Invest Dermatol. 2020. PMID: 32200879 Free article. Review.

7

Growth hormone deficiency in megalencephaly-capillary malformation syndrome: An association with activating mutations in PIK3CA.

Davis S, Ware MA, Zeiger J, Deardorff MA, Grand K, Grimberg A, Hsu S, Kelsey M, Majidi S, Matthew RP, Napier M, Nokoff N, Prasad C, Riggs AC, McKinnon ML, Mirzaa G. Davis S, et al. Am J Med Genet A. 2020 Jan;182(1):162-168. doi: 10.1002/ajmg.a.61403. Epub 2019 Nov 15. Am J Med Genet A. 2020. PMID: 31729162 Free PMC article.

8

Genotype correlates with clinical severity in PIK3CA-associated lymphatic malformations.

Zenner K, Cheng CV, Jensen DM, Timms AE, Shivaram G, Bly R, Ganti S, Whitlock KB, Dobyns WB, Perkins J, Bennett JT. Zenner K, et al. JCI Insight. 2019 Nov 1;4(21):e129884. doi: 10.1172/jci.insight.129884. JCI Insight. 2019. PMID: 31536475 Free PMC article.

9

Thrombosis risk factors in PIK3CA-related overgrowth spectrum and Proteus syndrome.

Keppler-Noreuil KM, Lozier J, Oden N, Taneja A, Burton-Akright J, Sapp JC, Biesecker LG. Keppler-Noreuil KM, et al. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):571-581. doi: 10.1002/ajmg.c.31735. Epub 2019 Sep 6. Am J Med Genet C Semin Med Genet. 2019. PMID: 31490637 Free PMC article.

10

Vascular Anomalies: Diagnosis of Complicated Anomalies and New Medical Treatment Options.

Adams DM, Ricci KW. Adams DM, et al. Hematol Oncol Clin North Am. 2019 Jun;33(3):455-470. doi: 10.1016/j.hoc.2019.01.011. Hematol Oncol Clin North Am. 2019. PMID: 31030813 Review.

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