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1.
Is there a dominant-negative effect in individuals with heterozygous disease-causing variants in COL4A3/COL4A4?
Clin Genet
; 105(4): 406-414, 2024 04.
Article
in English
| MEDLINE | ID: mdl-38214412
2.
Review of the Pathologic Characteristics in Myhre Syndrome: Gain-of-Function Pathogenic Variants in SMAD4 cause a Multisystem Fibroproliferative Response.
Pediatr Dev Pathol
; 25(6): 611-623, 2022.
Article
in English
| MEDLINE | ID: mdl-36120950
3.
Clinical Factors and Adverse Kidney Outcomes in Children With Antineutrophil Cytoplasmic Antibody-Associated Glomerulonephritis.
Am J Kidney Dis
; 81(1): 119-122, 2023 01.
Article
in English
| MEDLINE | ID: mdl-35810826
4.
Diversity of kidney care referral pathways in national child health systems of 48 European countries.
Front Pediatr
; 12: 1327422, 2024.
Article
in English
| MEDLINE | ID: mdl-38292210
5.
De Novo PACSIN1 Gene Variant Found in Childhood Lupus and a Role for PACSIN1/TRAF4 Complex in Toll-like Receptor 7 Activation.
Arthritis Rheumatol
; 75(6): 1058-1071, 2023 06.
Article
in English
| MEDLINE | ID: mdl-36622335
6.
The multifaceted phenotypic and genotypic spectrum of type-IV-collagen-related nephropathy-A human genetics department experience.
Front Med (Lausanne)
; 9: 957733, 2022.
Article
in English
| MEDLINE | ID: mdl-36117978
7.
Renal X-inactivation in female individuals with X-linked Alport syndrome primarily determined by age.
Front Med (Lausanne)
; 9: 953643, 2022.
Article
in English
| MEDLINE | ID: mdl-36341250
8.
Guidelines for Genetic Testing and Management of Alport Syndrome.
Clin J Am Soc Nephrol
; 17(1): 143-154, 2022 01.
Article
in English
| MEDLINE | ID: mdl-34930753
9.
Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS.
Eur J Hum Genet
; 29(2): 262-270, 2021 02.
Article
in English
| MEDLINE | ID: mdl-32887937
10.
Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria.
Eur J Hum Genet
; 29(8): 1186-1197, 2021 08.
Article
in English
| MEDLINE | ID: mdl-33854215
11.
FHR-5 Serum Levels and CFHR5 Genetic Variations in Patients With Immune Complex-Mediated Membranoproliferative Glomerulonephritis and C3-Glomerulopathy.
Front Immunol
; 12: 720183, 2021.
Article
in English
| MEDLINE | ID: mdl-34566977
12.
Validation of distinct pathogenic patterns in a cohort of membranoproliferative glomerulonephritis patients by cluster analysis.
Clin Kidney J
; 13(2): 225-234, 2020 Apr.
Article
in English
| MEDLINE | ID: mdl-32296528
13.
Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria.
Eur J Hum Genet
; 32(1): 132, 2024 Jan.
Article
in English
| MEDLINE | ID: mdl-36721056
14.
C4 nephritic factor in patients with immune-complex-mediated membranoproliferative glomerulonephritis and C3-glomerulopathy.
Orphanet J Rare Dis
; 14(1): 247, 2019 11 08.
Article
in English
| MEDLINE | ID: mdl-31703608
15.
Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus.
Nat Commun
; 10(1): 2201, 2019 05 17.
Article
in English
| MEDLINE | ID: mdl-31101814
16.
Recovery of Kidney Function in Children Treated with Maintenance Dialysis.
Clin J Am Soc Nephrol
; 13(10): 1510-1516, 2018 10 08.
Article
in English
| MEDLINE | ID: mdl-30237216
17.
Prevalence of Hypertension in Children with Early-Stage ADPKD.
Clin J Am Soc Nephrol
; 13(6): 874-883, 2018 06 07.
Article
in English
| MEDLINE | ID: mdl-29674338
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