Detalhe da pesquisa
1.
Features of Postpartum Hemorrhage-Associated Thrombotic Microangiopathy and Role of Short-Term Complement Inhibition.
Kidney Int Rep;
9(4): 919-928, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38765599
2.
[Improved Care and Treatment Options for Patients with Hyperphagia-Associated Obesity in Bardet-Biedl Syndrome]. / Verbesserte Versorgungs-und Behandlungsoptionen für Patienten mit Hyperphagie-assoziierter Adipositas bei Bardet-Biedl-Syndrom.
Klin Padiatr;
2024 Mar 08.
Artigo
em Alemão
| MEDLINE | ID: mdl-38458231
3.
Nephrolithiasis Associated with Nephrocalcinosis Is Primarily Composed of Carbonate Apatite.
Kidney Blood Press Res;
49(1): 239-244, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38513628
4.
Clinical practice recommendations for kidney involvement in tuberous sclerosis complex: a consensus statement by the ERKNet Working Group for Autosomal Dominant Structural Kidney Disorders and the ERA Genes & Kidney Working Group.
Nat Rev Nephrol;
20(6): 402-420, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38443710
5.
Ibrutinib-associated focal segmental glomerulosclerosis and the impact of podocin mutations in chronic lymphocytic leukemia.
Kidney Int;
105(4): 877-881, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38336226
6.
Congenital Hyperinsulinism in Humans and Insulin Secretory Dysfunction in Mice Caused by Biallelic DNAJC3 Variants.
Int J Mol Sci;
25(2)2024 01 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38279270
7.
Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).
Kidney Int;
105(4): 844-864, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38154558
8.
Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease.
Gastroenterology;
166(5): 902-914, 2024 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38101549
9.
An expanded clinical spectrum of hypoinsulinaemic hypoketotic hypoglycaemia.
Orphanet J Rare Dis;
18(1): 360, 2023 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37974153
10.
Kif21a deficiency leads to impaired glomerular filtration barrier function.
Sci Rep;
13(1): 19161, 2023 11 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37932480
11.
CD55 Deficiency With Budd-Chiari Syndrome Treated by Liver Transplantation and Eculizumab.
Pediatrics;
152(6)2023 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38018238
12.
A novel role for the chloride intracellular channel protein Clic5 in ciliary function.
Sci Rep;
13(1): 17647, 2023 10 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37848494
13.
PATJ inhibits histone deacetylase 7 to control tight junction formation and cell polarity.
Cell Mol Life Sci;
80(11): 333, 2023 Oct 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-37878054
14.
Implication of FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).
medRxiv;
2023 Mar 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-36993625
15.
A SEC61A1 variant is associated with autosomal dominant polycystic liver disease.
Liver Int;
43(2): 401-412, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36478640
16.
Modelling polycystic liver disease progression using age-adjusted liver volumes and targeted mutational analysis.
JHEP Rep;
4(11): 100579, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36246085
17.
Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis.
Kidney Int Rep;
7(9): 2016-2028, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-36090483
18.
Defective claudin-10 causes a novel variation of HELIX syndrome through compromised tight junction strand assembly.
Genes Dis;
9(5): 1301-1314, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35873018
19.
Hyperinsulinemic Hypoglycemia Associated with a CaV1.2 Variant with Mixed Gain- and Loss-of-Function Effects.
Int J Mol Sci;
23(15)2022 Jul 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-35897673
20.
Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.
J Clin Invest;
132(11)2022 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35642643