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.
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease.
Kidney Int
; 104(5): 995-1007, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37598857
3.
Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA.
J Am Soc Nephrol
; 33(2): 305-325, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34607911
4.
Review of genetic testing in kidney disease patients: Diagnostic yield of single nucleotide variants and copy number variations evaluated across and within kidney phenotype groups.
Am J Med Genet C Semin Med Genet
; 190(3): 358-376, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36161467
5.
Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract.
Kidney Int
; 101(5): 1039-1053, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35227688
6.
Genetics-first approach improves diagnostics of ESKD patients <50 years old.
Nephrol Dial Transplant
; 37(2): 349-357, 2022 01 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33306124
7.
An update on the use of tolvaptan for autosomal dominant polycystic kidney disease: consensus statement on behalf of the ERA Working Group on Inherited Kidney Disorders, the European Rare Kidney Disease Reference Network and Polycystic Kidney Disease International.
Nephrol Dial Transplant
; 37(5): 825-839, 2022 04 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35134221
8.
Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney disease.
Kidney Int
; 98(2): 476-487, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32631624
9.
NPHP1 (Nephrocystin-1) Gene Deletions Cause Adult-Onset ESRD.
J Am Soc Nephrol
; 29(6): 1772-1779, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29654215
10.
Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family.
Kidney Int
; 103(5): 986-989, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37085259
11.
Sox11 gene disruption causes congenital anomalies of the kidney and urinary tract (CAKUT).
Kidney Int
; 93(5): 1142-1153, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29459093
12.
Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy.
Pediatr Nephrol
; 33(10): 1701-1712, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29974258
13.
Importance of reliable variant calling and clear phenotyping when reporting on gene panel testing in renal disease.
Kidney Int
; 92(6): 1325-1327, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29153139
14.
Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT.
Kidney Int
; 89(2): 476-86, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26489027
15.
Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract.
Hum Genet
; 134(8): 905-16, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26026792
16.
Adult patient diagnosed with Muckle-Wells syndrome, antiphospholipid syndrome and glomerular haematuria.
BMJ Case Rep
; 17(1)2024 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38191227
17.
Medullary Sponge Kidney and its Relationship with Primary Distal Renal Tubular Acidosis: Case Reports and a Comprehensive Genetics First Approach.
Nephron
; 2024 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38447554
18.
Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants.
Sci Rep
; 14(1): 6917, 2024 03 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38519529
19.
KidneyNetwork: using kidney-derived gene expression data to predict and prioritize novel genes involved in kidney disease.
Eur J Hum Genet
; 31(11): 1300-1308, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36807342
20.
Is joint hypermobility associated with vesico-ureteral reflux? An assessment of 50 patients.
BJU Int
; 109(8): 1243-8, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21883843