Detalhe da pesquisa
1.
Clinical, neuroimaging and molecular characteristics of PPP2R5D-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype-phenotype analysis.
J Med Genet
; 60(5): 511-522, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36216457
2.
Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care.
Brain
; 145(3): 925-938, 2022 04 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35355055
3.
Ambulatory Blood Pressure and Endothelial Dysfunction in Hematopoietic Cell Transplantation Recipients.
Biol Blood Marrow Transplant
; 24(8): 1678-1684, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29704542
4.
Variants in PTEN Are Associated With a Diverse Spectrum of Cortical Dysplasia.
Pediatr Neurol
; 147: 154-162, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37619436
5.
Acute kidney injury and chronic kidney disease in umbilical cord blood transplant recipients.
Front Oncol
; 13: 1186503, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37260983
6.
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
Res Sq
; 2023 Sep 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37841849
7.
The utility of cerebrospinal fluid-derived cell-free DNA in molecular diagnostics for the PIK3CA-related megalencephaly-capillary malformation (MCAP) syndrome: a case report.
Cold Spring Harb Mol Case Stud
; 8(3)2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35483878
8.
ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infection.
Ann Clin Transl Neurol
; 9(8): 1276-1288, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35871307
9.
Thrombotic Microangiopathy Increases the Risk of Chronic Kidney Disease but Not Overall Mortality in Long-term Transplant Survivors.
Transplant Cell Ther
; 27(10): 864.e1-864.e5, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34217847
10.
Prognostic Biomarkers for Thrombotic Microangiopathy after Acute Graft-versus-Host Disease: A Nested Case-Control Study.
Transplant Cell Ther
; 27(4): 308.e1-308.e8, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33836868
11.
Changes in Glomerular Filtration Rate and Impact on Long-Term Survival among Adults after Hematopoietic Cell Transplantation: A Prospective Cohort Study.
Clin J Am Soc Nephrol
; 13(6): 866-873, 2018 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29669818
12.
Estimating GFR in adult patients with hematopoietic cell transplant: comparison of estimating equations with an iohexol reference standard.
Clin J Am Soc Nephrol
; 10(4): 601-10, 2015 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25717073
13.
Urinary elafin and kidney injury in hematopoietic cell transplant recipients.
Clin J Am Soc Nephrol
; 10(1): 12-20, 2015 Jan 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25388519