Works matching DE "DENYS-Drash syndrome"
Results: 29
Management of bilateral Wilms tumours.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Modulation of VEGF-A Alternative Splicing as a Novel Treatment in Chronic Kidney Disease.
- Published in:
- Genes, 2018, v. 9, n. 2, p. 98, doi. 10.3390/genes9020098
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- Publication type:
- Article
Refining the Diagnosis of Congenital Nephrotic Syndrome on Long-term Stored Tissue: c.1097G>A (p.(Arg366His)) WT1 Mutation Causing Denys Drash Syndrome.
- Published in:
- 2017
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- Publication type:
- Case Study
Refining the Diagnosis of Congenital Nephrotic Syndrome on Long-term Stored Tissue: c.1097G>A (p.(Arg366His)) WT1 Mutation Causing Denys Drash Syndrome.
- Published in:
- Fetal & Pediatric Pathology, 2016, v. 35, n. 2, p. 112, doi. 10.3109/15513815.2016.1139018
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- Publication type:
- Article
Discordant phenotypes in monozygotic twins with identical de novo WT1 mutation.
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- Clinical Kidney Journal, 2012, v. 5, n. 3, p. 221
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- Publication type:
- Article
Hemolytic uremic syndrome as the presenting manifestation of WT1 mutation and Denys-Drash syndrome: a case report.
- Published in:
- 2017
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- Publication type:
- journal article
Unusual Presentation of Denys-Drash Syndrome in a Girl with Undisclosed Consumption of Biotin.
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- Journal of Clinical Research in Pediatric Endocrinology, 2021, v. 13, n. 3, p. 347, doi. 10.4274/jcrpe.galenos.2020.2020.0064
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- Publication type:
- Article
Discordant phenotypes in monozygotic twins with identical de novo WT1 mutation.
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- Nephrology Dialysis Transplantation, 2012, v. 5, n. 3, p. 221
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- Publication type:
- Article
WT1-related disorders: more than Denys-Drash syndrome.
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- Pediatric Nephrology, 2024, v. 39, n. 9, p. 2601, doi. 10.1007/s00467-024-06302-y
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- Publication type:
- Article
Prophylactic bilateral nephrectomy and preemptive kidney transplantation for Denys–Drash syndrome prior to development of kidney failure.
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- Pediatric Nephrology, 2024, v. 39, n. 3, p. 905, doi. 10.1007/s00467-023-06113-7
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- Publication type:
- Article
Atypical severe early-onset nephrotic syndrome: Answers.
- Published in:
- 2022
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- Publication type:
- Question & Answer
Atypical severe early-onset nephrotic syndrome: Questions.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Long-term kidney function in children with Wilms tumour and constitutional WT1 pathogenic variant.
- Published in:
- Pediatric Nephrology, 2022, v. 37, n. 4, p. 821, doi. 10.1007/s00467-021-05125-5
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- Publication type:
- Article
Risk factors for post-nephrectomy hypotension in pediatric patients.
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- Pediatric Nephrology, 2021, v. 36, n. 11, p. 3699, doi. 10.1007/s00467-021-05115-7
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- Publication type:
- Article
Renal failure from birth-AKI or CKD? Answers.
- Published in:
- Pediatric Nephrology, 2016, v. 31, n. 12, p. 2259, doi. 10.1007/s00467-016-3332-6
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- Publication type:
- Article
A novel WT1 heterozygous nonsense mutation (p.K248X) causing a mild and slightly progressive nephropathy in a 46,XY patient with Denys-Drash syndrome.
- Published in:
- 2011
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- Publication type:
- Report
A girl with bilateral ovarian tumours: Frasier syndrome.
- Published in:
- 2002
- By:
- Publication type:
- journal article
WT1 Deletion Leading to Severe 46,XY Gonadal Dysgenesis, Wilms Tumor and Gonadoblastoma: Case Report.
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- Hormone Research in Paediatrics, 2015, v. 83, n. 3, p. 211, doi. 10.1159/000368964
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- Publication type:
- Article
Denys-Drash Syndrome.
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- Applied Radiology, 2021, v. 50, n. 5, p. 61, doi. 10.37549/ar2762
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- Publication type:
- Article
Metabolic Alkalosis with Non-Absorbable Phosphate Binders and Sodium Polystyrene Combination in a Patient with End Stage Renal Failure.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Synchronous bilateral wilms tumor: Five-year single-center experience with assessment of quality of life.
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- Journal of Indian Association of Pediatric Surgeons, 2019, v. 24, n. 1, p. 52, doi. 10.4103/jiaps.JIAPS_42_18
- Publication type:
- Article
Bilateral Wilms' tumors in an infant with Denys-Drash syndrome and rarely seen truncation mutation in the WT1 gene-exon 6.
- Published in:
- 2015
- By:
- Publication type:
- Letter to the Editor
Management and outcomes in massive bilateral Wilms’ tumors.
- Published in:
- Journal of Indian Association of Pediatric Surgeons, 2014, v. 19, n. 4, p. 208, doi. 10.4103/0971-9261.142005
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- Publication type:
- Article
Renal Failure and Atypical Genital Appearance in a Critically Ill Infant.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
A familial WT1 mutation associated with incomplete Denys-Drash syndrome.
- Published in:
- European Journal of Pediatrics, 2013, v. 172, n. 10, p. 1357, doi. 10.1007/s00431-013-2004-9
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- Publication type:
- Article
A child with isolated nephrotic syndrome and WT1 mutation presenting as a 46, XY phenotypic male.
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- European Journal of Pediatrics, 2013, v. 172, n. 1, p. 127, doi. 10.1007/s00431-012-1770-0
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- Publication type:
- Article
The podocyte as a target: cyclosporin A in the management of the nephrotic syndrome caused by WT1 mutations.
- Published in:
- 2011
- By:
- Publication type:
- journal article
<bold><italic>WT1</italic></bold> Gene Mutation, p.R462W, in a 46,XY DSD Patient from Egypt with Gonadoblastoma and Review of the Literature.
- Published in:
- Sexual Development, 2017, v. 11, n. 5/6, p. 280, doi. 10.1159/000485394
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- Publication type:
- Article
Denys-Drash syndrome, septated vagina and low level of anti-Mullerian hormone in male neonate.
- Published in:
- 2014
- By:
- Publication type:
- Case Study