Detalhe da pesquisa
1.
Outcomes of steroid-resistant nephrotic syndrome in children not treated with intensified immunosuppression.
Pediatr Nephrol
; 38(5): 1499-1511, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36315273
2.
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes.
Hum Mutat
; 43(9): 1299-1313, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35607920
3.
Oral Coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary Coenzyme Q10 deficiency.
Kidney Int
; 102(3): 604-612, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35643375
4.
Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy.
Kidney Int
; 102(3): 592-603, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35483523
5.
Multicenter study on the genetics of glomerular diseases among southeast and south Asians: Deciphering Diversities - Renal Asian Genetics Network (DRAGoN).
Clin Genet
; 101(5-6): 541-551, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35064937
6.
Phenotypic characterization of seven individuals with Marbach-Schaaf neurodevelopmental syndrome.
Am J Med Genet A
; 188(9): 2627-2636, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35789103
7.
Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice.
Nephrol Dial Transplant
; 37(2): 239-254, 2022 01 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-34264297
8.
Broad phenotypic spectrum of germ line 7p12.1 microdeletions encompassing the IKZF1 gene includes predisposition to acute lymphoblastic leukemia.
Genes Chromosomes Cancer
; 60(2): 79-87, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33135230
9.
Mild X-linked Alport syndrome due to the COL4A5 G624D variant originating in the Middle Ages is predominant in Central/East Europe and causes kidney failure in midlife.
Kidney Int
; 99(6): 1451-1458, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33309955
10.
Non-syndromic inherited retinal diseases in Poland: Genes, mutations, and phenotypes.
Mol Vis
; 27: 457-465, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34321860
11.
CoQ10-related sustained remission of proteinuria in a child with COQ6 glomerulopathy-a case report.
Pediatr Nephrol
; 33(12): 2383-2387, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30232548
12.
Long-Term Outcome of Steroid-Resistant Nephrotic Syndrome in Children.
J Am Soc Nephrol
; 28(10): 3055-3065, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28566477
13.
ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS.
J Am Soc Nephrol
; 27(1): 63-8, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25967120
14.
Comparative genomic analysis of intracranial germ cell tumors - the preliminary study focused on Sonic Hedgehog signaling pathway.
Contemp Oncol (Pozn)
; 21(4): 279-284, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29416433
15.
Chromosome 18q deletion syndrome with autoimmune diabetes mellitus: putative genomic loci for autoimmunity and immunodeficiency.
Pediatr Diabetes
; 17(2): 153-9, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25403779
16.
Glomerulopathy in patients with distal duplication of chromosome 6p.
BMC Nephrol
; 17: 32, 2016 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-27000031
17.
Co-incidence of Turner syndrome and Duchenne muscular dystrophy - an important problem for the clinician.
Dev Period Med
; 20(4): 273-278, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-28216480
18.
NUP Nephropathy: When Defective Pores Cause Leaky Glomeruli.
Am J Kidney Dis
; 73(6): 890-892, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30876747
19.
The role of multidisciplinary diagnostic and therapeutic model of care in Lamb-Shaffer syndrome - case report.
J Appl Genet
; 2024 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38340286
20.
Steroid-Resistant Nephrotic Syndrome due to NPHS2 Variants Is Not Associated With Posttransplant Recurrence.
Kidney Int Rep
; 9(4): 973-981, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38765578