Detalhe da pesquisa
1.
Reassuring pregnancy outcomes in women with mild COL4A3-5-related disease (Alport syndrome) and genetic type of disease can aid personalized counseling.
Kidney Int
; 105(5): 1088-1099, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38382843
2.
The psychological impact of genetic testing in childhood cancer: A systematic review.
Psychooncology
; 33(1): e6279, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38282231
3.
Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2.
Br J Cancer
; 128(12): 2283-2294, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37076566
4.
Atypical Hemolytic Uremic Syndrome Occurring After Receipt of mRNA-1273 COVID-19 Vaccine Booster: A Case Report.
Am J Kidney Dis
; 81(3): 364-367, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36342000
5.
HRAS-related epidermal nevus syndromes: Expansion of the spectrum with first branchial arch defects.
Clin Genet
; 103(6): 709-713, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36896710
6.
Natural History of Bone Disease following Kidney Transplantation.
J Am Soc Nephrol
; 33(3): 638-652, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35046132
7.
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach.
Hum Mutat
; 43(12): 1921-1944, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35979650
8.
Diagnostic Accuracy of Noninvasive Bone Turnover Markers in Renal Osteodystrophy.
Am J Kidney Dis
; 79(5): 667-676.e1, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34710517
9.
Shallow-depth sequencing of cell-free DNA for Hodgkin and diffuse large B-cell lymphoma (differential) diagnosis: a standardized approach with underappreciated potential.
Haematologica
; 107(1): 211-220, 2022 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33299235
10.
The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant.
Genet Med
; 23(9): 1726-1737, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34113011
11.
Missing heritability in Bloom syndrome: First report of a deep intronic variant leading to pseudo-exon activation in the BLM gene.
Clin Genet
; 99(2): 292-297, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33073370
12.
Patterns of renal osteodystrophy 1 year after kidney transplantation.
Nephrol Dial Transplant
; 36(11): 2130-2139, 2021 11 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34383929
13.
Timing of blood sampling for butyrylcholinesterase phenotyping in patients with prolonged neuromuscular block after mivacurium or suxamethonium.
Acta Anaesthesiol Scand
; 65(2): 182-187, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33010031
14.
An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes.
Kidney Int
; 98(6): 1589-1604, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32750457
15.
Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants.
Genet Med
; 22(10): 1653-1666, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32665703
16.
Natural history of mineral metabolism, bone turnover and bone mineral density in de novo renal transplant recipients treated with a steroid minimization immunosuppressive protocol.
Nephrol Dial Transplant
; 35(4): 697-705, 2020 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30339234
17.
Bone mineral density, bone turnover markers, and incident fractures in de novo kidney transplant recipients.
Kidney Int
; 95(6): 1461-1470, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30922664
18.
A distinct bone phenotype in ADPKD patients with end-stage renal disease.
Kidney Int
; 95(2): 412-419, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30665572
19.
Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers.
Br J Cancer
; 121(2): 180-192, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31213659
20.
Long term response on Regorafenib in non-V600E BRAF mutated colon cancer: a case report.
BMC Cancer
; 19(1): 567, 2019 Jun 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31185985