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.
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
4.
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
5.
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
6.
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
7.
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
8.
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
9.
Non-syndromic inherited retinal diseases in Poland: Genes, mutations, and phenotypes.
Mol Vis
; 27: 457-465, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34321860
10.
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
11.
ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS.
J Am Soc Nephrol
; 27(1): 63-8, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25967120
12.
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
13.
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
14.
Glomerulopathy in patients with distal duplication of chromosome 6p.
BMC Nephrol
; 17: 32, 2016 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-27000031
15.
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
16.
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
17.
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
18.
Genetic diversity in Kashubs: the regional increase in the frequency of several disease-causing variants.
J Appl Genet
; 63(4): 691-701, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-35971028
19.
Later Response to Corticosteroids in Adults With Primary Focal Segmental Glomerular Sclerosis Is Associated With Favorable Outcomes.
Kidney Int Rep
; 7(1): 87-98, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-35005317
20.
Multicentric Carpotarsal Osteolysis Syndrome Associated Nephropathy: Novel Variants of MAFB Gene and Literature Review.
J Clin Med
; 11(15)2022 Jul 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35956038