Pao EM - Search Results

1

Clinical, neuroimaging and molecular characteristics of PPP2R5D-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype-phenotype analysis.

Oyama N, Vaneynde P, Reynhout S, Pao EM, Timms A, Fan X, Foss K, Derua R, Janssens V, Chung W, Mirzaa GM. Oyama N, et al. Among authors: pao em. J Med Genet. 2023 May;60(5):511-522. doi: 10.1136/jmg-2022-108713. Epub 2022 Oct 10. J Med Genet. 2023. PMID: 36216457

2

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.

3

The utility of cerebrospinal fluid-derived cell-free DNA in molecular diagnostics for the PIK3CA-related megalencephaly-capillary malformation (MCAP) syndrome: a case report.

Chen WL, Pao E, Owens J, Glass I, Pritchard C, Shirts BH, Lockwood C, Mirzaa GM. Chen WL, et al. Cold Spring Harb Mol Case Stud. 2022 Apr 28;8(3):a006188. doi: 10.1101/mcs.a006188. Print 2022 Apr. Cold Spring Harb Mol Case Stud. 2022. PMID: 35483878 Free PMC article.

4

Ambulatory Blood Pressure and Endothelial Dysfunction in Hematopoietic Cell Transplantation Recipients.

Pao E, Gove NE, Flynn JT, Hingorani S. Pao E, et al. Biol Blood Marrow Transplant. 2018 Aug;24(8):1678-1684. doi: 10.1016/j.bbmt.2018.04.024. Epub 2018 Apr 25. Biol Blood Marrow Transplant. 2018. PMID: 29704542 Free article.

5

Urinary cytokines after HCT: evidence for renal inflammation in the pathogenesis of proteinuria and kidney disease.

Hingorani S, Gooley T, Pao E, Sandmaier B, McDonald G. Hingorani S, et al. Bone Marrow Transplant. 2014 Mar;49(3):403-9. doi: 10.1038/bmt.2013.197. Epub 2013 Dec 9. Bone Marrow Transplant. 2014. PMID: 24317123 Free PMC article.

6

Markers of coagulation activation and acute kidney injury in patients after hematopoietic cell transplantation.

Hingorani SR, Seidel K, Pao E, Lawler R, McDonald GB. Hingorani SR, et al. Bone Marrow Transplant. 2015 May;50(5):715-20. doi: 10.1038/bmt.2015.2. Epub 2015 Feb 9. Bone Marrow Transplant. 2015. PMID: 25665045 Free PMC article.

7

Prognostic Biomarkers for Thrombotic Microangiopathy after Acute Graft-versus-Host Disease: A Nested Case-Control Study.

Li A, Bhatraju PK, Chen J, Chung DW, Hilton T, Houck K, Pao E, Weiss NS, Lee SJ, Davis C, Schmidt MJ, Lopez JA, Liles WC, Dong JF, Hingorani SR. Li A, et al. Transplant Cell Ther. 2021 Apr;27(4):308.e1-308.e8. doi: 10.1016/j.jtct.2020.12.010. Epub 2020 Dec 16. Transplant Cell Ther. 2021. PMID: 33836868 Free PMC article.

8

Thrombotic Microangiopathy Increases the Risk of Chronic Kidney Disease but Not Overall Mortality in Long-term Transplant Survivors.

Li A, Gupta R, Amos CI, Davis C, Pao E, Lee SJ, Hingorani SR. Li A, et al. Transplant Cell Ther. 2021 Oct;27(10):864.e1-864.e5. doi: 10.1016/j.jtct.2021.06.027. Epub 2021 Jul 1. Transplant Cell Ther. 2021. PMID: 34217847 Free article.

9

A glomerular transcriptomic landscape of apolipoprotein L1 in Black patients with focal segmental glomerulosclerosis.

McNulty MT, Fermin D, Eichinger F, Jang D, Kretzler M, Burtt NP, Pollak MR, Flannick J, Weins A, Friedman DJ; Nephrotic Syndrome Study Network (NEPTUNE); Sampson MG. McNulty MT, et al. Kidney Int. 2022 Jul;102(1):136-148. doi: 10.1016/j.kint.2021.10.041. Epub 2021 Dec 18. Kidney Int. 2022. PMID: 34929253 Free PMC article.

10

Kidney Biopsy Features Most Predictive of Clinical Outcomes in the Spectrum of Minimal Change Disease and Focal Segmental Glomerulosclerosis.

Zee J, Liu Q, Smith AR, Hodgin JB, Rosenberg A, Gillespie BW, Holzman LB, Barisoni L, Mariani LH; Nephrotic Syndrome Study Network (NEPTUNE); NEPTUNE Members. Zee J, et al. J Am Soc Nephrol. 2022 Jul;33(7):1411-1426. doi: 10.1681/ASN.2021101396. Epub 2022 May 17. J Am Soc Nephrol. 2022. PMID: 35581011 Free PMC article.

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