Found: 73
Select item for more details and to access through your institution.
Co-Occurrence of Nephronophthisis Type 1 and Alström Syndrome: A Case Report.
- Published in:
- Nephron, 2024, v. 148, n. 5, p. 345, doi. 10.1159/000529473
- By:
- Publication type:
- Article
Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-37985-w
- By:
- Publication type:
- Article
Variations in the Human Serum Albumin Gene: Molecular and Functional Aspects.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 3, p. 1159, doi. 10.3390/ijms23031159
- By:
- Publication type:
- Article
Molecular Diagnosis of Analbuminemia: A New Case Caused by a Nonsense Mutation in the Albumin Gene.
- Published in:
- International Journal of Molecular Sciences, 2011, v. 12, n. 11, p. 7314, doi. 10.3390/ijms12117314
- By:
- Publication type:
- Article
Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome.
- Published in:
- Nephrology Dialysis Transplantation, 2020, v. 35, n. 7, p. 1195, doi. 10.1093/ndt/gfy333
- By:
- Publication type:
- Article
Congenital Analbuminemia in Unrelated Algerian and Turkish Families is Caused by the Same Molecular Defect in the Albumin Gene.
- Published in:
- Annals of Laboratory Medicine, 2018, v. 38, n. 2, p. 185, doi. 10.3343/alm.2018.38.2.185
- By:
- Publication type:
- Article
Case Report: Atypical Manifestations Associated With FOXP3 Mutations. The "Fil Rouge" of Treg Between IPEX Features and Other Clinical Entities?
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Induction of apoptosis in human neuroblastoma cells by abrogation of integrin-mediated cell adhesion.
- Published in:
- International Journal of Cancer, 1997, v. 70, n. 6, p. 688, doi. 10.1002/(SICI)1097-0215(19970317)70:6<688::AID-IJC11>3.0.CO;2-6
- By:
- Publication type:
- Article
A two-base-pairs deletion in the albumin gene causes a new case of analbuminemia.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2012, v. 50, n. 12, p. 2221, doi. 10.1515/cclm-2012-0390
- By:
- Publication type:
- Article
A novel nonsense mutation in the albumin gene (c.1275 C>A) causing analbuminemia in a Tunisian boy.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2009, v. 47, n. 10, p. 1311, doi. 10.1515/CCLM.2009.289
- By:
- Publication type:
- Article
mRNA Sequencing of a Novel NPHS2 Intronic Mutation in a Child with Focal and Segmental Glomerulosclerosis.
- Published in:
- Saudi Journal of Kidney Diseases & Transplantation, 2014, v. 25, n. 4, p. 854, doi. 10.4103/1319-2442.135180
- By:
- Publication type:
- Article
The Case | Cystic renal disease, nephrogenic diabetes insipidus, and polycytemia.
- Published in:
- Kidney International, 2014, v. 86, n. 4, p. 863, doi. 10.1038/ki.2013.445
- By:
- Publication type:
- Article
Genotype-phenotype associations in WT1 glomerulopathy.
- Published in:
- Kidney International, 2014, v. 85, n. 5, p. 1169, doi. 10.1038/ki.2013.519
- By:
- Publication type:
- Article
Rituximab is a safe and effective long-term treatment for children with steroid and calcineurin inhibitor-dependent idiopathic nephrotic syndrome.
- Published in:
- Kidney International, 2013, v. 84, n. 5, p. 1025, doi. 10.1038/ki.2013.211
- By:
- Publication type:
- Article
Genetic screening in adolescents with steroid-resistant nephrotic syndrome.
- Published in:
- Kidney International, 2013, v. 84, n. 1, p. 206, doi. 10.1038/ki.2013.93
- By:
- Publication type:
- Article
Urinary secretion and extracellular aggregation of mutant uromodulin isoforms.
- Published in:
- Kidney International, 2012, v. 81, n. 8, p. 769, doi. 10.1038/ki.2011.456
- By:
- Publication type:
- Article
Exome sequencing identified MYO1E and NEIL1 as candidate genes for human autosomal recessive steroid-resistant nephrotic syndrome.
- Published in:
- Kidney International, 2011, v. 80, n. 4, p. 389, doi. 10.1038/ki.2011.148
- By:
- Publication type:
- Article
Renal outcome in patients with congenital anomalies of the kidney and urinary tract.
- Published in:
- Kidney International, 2009, v. 76, n. 5, p. 528, doi. 10.1038/ki.2009.220
- By:
- Publication type:
- Article
Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.
- Published in:
- Nature Genetics, 2014, v. 46, n. 11, p. 1187, doi. 10.1038/ng.3118
- By:
- Publication type:
- Article
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis.
- Published in:
- Nature Genetics, 2010, v. 42, n. 2, p. 175, doi. 10.1038/ng.519
- By:
- Publication type:
- Article
IgA nephropathy, the most common cause of glomerulonephritis, is linked to 6q22?23.
- Published in:
- Nature Genetics, 2000, v. 26, n. 3, p. 354, doi. 10.1038/81677
- By:
- Publication type:
- Article
Recurrent Hypoglycemia in a Case of Congenital Analbuminemia.
- Published in:
- Case Reports in Endocrinology, 2020, p. 1, doi. 10.1155/2020/8452564
- By:
- Publication type:
- Article
Biologics and Non-Biologics Immunosuppressive Treatments for IgA Nephropathy in Both Adults and Children.
- Published in:
- Journal of Clinical Medicine, 2024, v. 13, n. 9, p. 2465, doi. 10.3390/jcm13092465
- By:
- Publication type:
- Article
Multicentric Carpotarsal Osteolysis Syndrome Associated Nephropathy: Novel Variants of MAFB Gene and Literature Review.
- Published in:
- Journal of Clinical Medicine, 2022, v. 11, n. 15, p. 4423, doi. 10.3390/jcm11154423
- By:
- Publication type:
- Article
Glomerular albumin permeability as an in vitro model for characterizing the mechanism of focal glomerulosclerosis and predicting post-transplant recurrence.
- Published in:
- Pediatric Transplantation, 2004, v. 8, n. 4, p. 339, doi. 10.1111/j.1399-3046.2004.00178.x
- By:
- Publication type:
- Article
Adverse events linked with the use of chimeric and humanized anti‐CD20 antibodies in children with idiopathic nephrotic syndrome.
- Published in:
- British Journal of Clinical Pharmacology, 2018, v. 84, n. 6, p. 1238, doi. 10.1111/bcp.13548
- By:
- Publication type:
- Article
Vaccines and nephrotic syndrome: efficacy and safety.
- Published in:
- Pediatric Nephrology, 2023, v. 38, n. 9, p. 2915, doi. 10.1007/s00467-022-05835-4
- By:
- Publication type:
- Article
A nucleotide deletion and frame-shift cause analbuminemia in a Turkish family.
- Published in:
- Biochemia Medica, 2016, v. 26, n. 2, p. 264, doi. 10.11613/BM.2016.031
- By:
- Publication type:
- Article
Congenital analbuminemia caused by a novel aberrant splicing in the albumin gene.
- Published in:
- Biochemia Medica, 2014, v. 24, n. 1, p. 151, doi. 10.11613/BM.2014.017
- By:
- Publication type:
- Article
Autosomal Dominant Tubulointerstitial Kidney Disease with Adult Onset due to a Novel Renin Mutation Mapping in the Mature Protein.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-48014-6
- By:
- Publication type:
- Article
Biologies in steroid resistant nephrotic syndrome in childhood: review and new hypothesis-driven treatment.
- Published in:
- Frontiers in Immunology, 2023, p. 01, doi. 10.3389/fimmu.2023.1213203
- By:
- Publication type:
- Article
Diagnosis, Phenotype, and Molecular Genetics of Congenital Analbuminemia.
- Published in:
- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00336
- By:
- Publication type:
- Article
A novel splicing mutation in the albumin gene (c.270+1G>T) causes analbuminaemia in a German infant.
- Published in:
- 2016
- By:
- Publication type:
- journal article
L'URUMODULINA MUTATA È SECRETA NELLE URINE DI PAZIENTI AFFETTI DA NEFROPATIA IPERURICEMICA FAMILIARE ED INDUCE LA FORMAZIONE DI AGGREGATI EXTRACELLULARI.
- Published in:
- Giornale Italiano di Nefrologia, 2012, v. 29, n. 2, p. 137
- By:
- Publication type:
- Article
MUTAZIONI NEL GENE TRPC6 IN BAMBINI AFFETTI DA SINDROME NEFROSICA STEROIDO-RESISTENTE.
- Published in:
- Giornale Italiano di Nefrologia, 2011, v. 28, n. 4, p. 350
- By:
- Publication type:
- Article
Novel biomarkers and pathophysiology of membranous nephropathy: PLA2R and beyond.
- Published in:
- Clinical Kidney Journal, 2024, v. 17, n. 1, p. 1, doi. 10.1093/ckj/sfad228
- By:
- Publication type:
- Article
Renal involvement and Strømme syndrome.
- Published in:
- Clinical Kidney Journal, 2021, v. 14, p. 439, doi. 10.1093/ckj/sfz189
- By:
- Publication type:
- Article
Rituximab vs Low-Dose Mycophenolate Mofetil in Recurrence of Steroid-Dependent Nephrotic Syndrome in Children and Young Adults: A Randomized Clinical Trial.
- Published in:
- JAMA Pediatrics, 2021, v. 175, n. 6, p. 631, doi. 10.1001/jamapediatrics.2020.6150
- By:
- Publication type:
- Article
Research update for articles published in EJCI in 2013.
- Published in:
- European Journal of Clinical Investigation, 2015, v. 45, n. 10, p. 1005, doi. 10.1111/eci.12512
- By:
- Publication type:
- Article
A novel mutation in the albumin gene (c.1A>C) resulting in analbuminemia.
- Published in:
- European Journal of Clinical Investigation, 2013, v. 43, n. 1, p. 72, doi. 10.1111/eci.12019
- By:
- Publication type:
- Article
Low-dose ofatumumab for multidrug-resistant nephrotic syndrome in children: a randomized placebo-controlled trial.
- Published in:
- Pediatric Nephrology, 2020, v. 35, n. 6, p. 997, doi. 10.1007/s00467-020-04481-y
- By:
- Publication type:
- Article
Five cases of severe vesico-ureteric reflux in a family with an X-linked compatible trait.
- Published in:
- 2010
- By:
- Publication type:
- Report
Familial forms of nephrotic syndrome.
- Published in:
- Pediatric Nephrology, 2010, v. 25, n. 2, p. 241, doi. 10.1007/s00467-008-1051-3
- By:
- Publication type:
- Article
Locus heterogeneity of Dent’s disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations.
- Published in:
- Pediatric Nephrology, 2009, v. 24, n. 10, p. 1967, doi. 10.1007/s00467-009-1228-4
- By:
- Publication type:
- Article
Recurrent lymphomatoid papulosis associated with nephrotic syndrome. An occurrence of uncertain origin.
- Published in:
- 2009
- By:
- Publication type:
- Report
Glomerulocystic kidney disease in hypomelanosis of Ito.
- Published in:
- 2008
- By:
- Publication type:
- Report
Association of the macrophage migration inhibitory factor −173*C allele with childhood nephrotic syndrome.
- Published in:
- Pediatric Nephrology, 2008, v. 23, n. 5, p. 743, doi. 10.1007/s00467-007-0729-2
- By:
- Publication type:
- Article
Teaching molecular genetics: chapter 4—positional cloning of genetic disorders.
- Published in:
- Pediatric Nephrology, 2007, v. 22, n. 12, p. 2023, doi. 10.1007/s00467-007-0548-5
- By:
- Publication type:
- Article
Genetic approaches to human renal agenesis/hypoplasia and dysplasia.
- Published in:
- Pediatric Nephrology, 2007, v. 22, n. 10, p. 1675, doi. 10.1007/s00467-007-0479-1
- By:
- Publication type:
- Article
Genetic approaches to human renal agenesis/hypoplasia and dysplasia.
- Published in:
- 2007
- By:
- Publication type:
- Correction Notice