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Items: 16

1.

Hemolytic uremic syndrome as the presenting manifestation of WT1 mutation and Denys-Drash syndrome: a case report.

Alge JL, Wenderfer SE, Hicks J, Bekheirnia MR, Schady DA, Kain JS, Braun MC.

BMC Nephrol. 2017 Jul 18;18(1):243. doi: 10.1186/s12882-017-0643-1.

2.

Management of bilateral Wilms tumours.

Millar AJW, Cox S, Davidson A.

Pediatr Surg Int. 2017 Jul;33(7):737-745. doi: 10.1007/s00383-017-4091-6. Epub 2017 May 17. Review.

PMID:
28516188
3.

WT1 Haploinsufficiency Supports Milder Renal Manifestation in Two Patients with Denys-Drash Syndrome.

Guaragna MS, Ribeiro de Andrade JG, de Freitas Carli B, Belangero VM, Maciel-Guerra AT, Guerra-Júnior G, de Mello MP.

Sex Dev. 2017;11(1):34-39. doi: 10.1159/000454821. Epub 2017 Jan 13.

PMID:
28081536
4.

Management of bilateral Wilms tumours.

Millar AJ, Cox S, Davidson A.

Pediatr Surg Int. 2017 Apr;33(4):461-469. doi: 10.1007/s00383-016-4047-2. Epub 2017 Jan 4. Review.

PMID:
28054101
5.

Diagnosis of congenital and infantile nephrotic syndromes in renal biopsies in Minas Gerais, Brazil: Six case reports.

Rocha LP, Custódio FB, Machado JR, de Morais Pereira LH, Monteiro ML, Laterza VL, Dos Reis MA, Corrêa RR.

Ultrastruct Pathol. 2016 Nov-Dec;40(6):311-316. Epub 2016 Sep 26.

PMID:
27669128
6.

Repression of CMIP transcription by WT1 is relevant to podocyte health.

Moktefi A, Zhang SY, Vachin P, Ory V, Henique C, Audard V, Rucker-Martin C, Gouadon E, Eccles M, Schedl A, Heidet L, Ollero M, Sahali D, Pawlak A.

Kidney Int. 2016 Dec;90(6):1298-1311. doi: 10.1016/j.kint.2016.07.016. Epub 2016 Sep 17.

PMID:
27650733
7.

Denys-Drash syndrome associated WT1 glutamine 369 mutants have altered sequence-preferences and altered responses to epigenetic modifications.

Hashimoto H, Zhang X, Zheng Y, Wilson GG, Cheng X.

Nucleic Acids Res. 2016 Dec 1;44(21):10165-10176. Epub 2016 Sep 4.

8.

Clinical Aspects of WT1 and the Kidney.

Miller-Hodges E.

Methods Mol Biol. 2016;1467:15-21. doi: 10.1007/978-1-4939-4023-3_2.

PMID:
27417956
9.

Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit.

Daoud H, Luco SM, Li R, Bareke E, Beaulieu C, Jarinova O, Carson N, Nikkel SM, Graham GE, Richer J, Armour C, Bulman DE, Chakraborty P, Geraghty M, Lines MA, Lacaze-Masmonteil T, Majewski J, Boycott KM, Dyment DA.

CMAJ. 2016 Aug 9;188(11):E254-60. doi: 10.1503/cmaj.150823. Epub 2016 May 30.

10.

Refining the Diagnosis of Congenital Nephrotic Syndrome on Long-term Stored Tissue: c.1097G>A (p.(Arg366His)) WT1 Mutation Causing Denys Drash Syndrome.

Hillen LM, Kamsteeg EJ, Schoots J, Tiebosch AT, Speel EJ, Roemen GM, Peutz-Koostra CJ, Stumpel CT.

Fetal Pediatr Pathol. 2016;35(2):112-9. doi: 10.3109/15513815.2016.1139018. Epub 2016 Feb 16.

PMID:
26882358
11.

WT1 deletion leading to severe 46,XY gonadal dysgenesis, Wilms tumor and gonadoblastoma: case report.

Finken MJ, Hendriks YM, van der Voorn JP, Veening MA, Lombardi MP, Rotteveel J.

Horm Res Paediatr. 2015;83(3):211-6. doi: 10.1159/000368964. Epub 2015 Jan 20.

PMID:
25613702
12.

Glomerular epithelial cell phenotype in diffuse mesangial sclerosis: a report of 2 cases with markedly increased urinary podocyte excretion.

Ikezumi Y, Suzuki T, Karasawa T, Kaneko U, Yamada T, Hasegawa H, Nagata M, Saitoh A.

Hum Pathol. 2014 Aug;45(8):1778-83. doi: 10.1016/j.humpath.2014.03.017. Epub 2014 Apr 18.

PMID:
24856573
13.

Clinical features and an atypical WT1 mutant site in a child with incomplete Denys-Drash syndrome.

Wang HY, Yue ZH, Sun LZ, Mo JC, Mo Y, Sun JJ.

Asian J Androl. 2014 Jul-Aug;16(4):647-9. doi: 10.4103/1008-682X.125396. No abstract available.

14.

An unusual presentation of Denys-Drash syndrome due to bigenic disease.

Eneman B, Mekahli D, Audrezet MP, Lerut E, Van Damme-Lombaerts R, Van den Heuvel L, Levtchenko E.

Pediatrics. 2014 Jan;133(1):e252-6. doi: 10.1542/peds.2013-1524. Epub 2013 Dec 30.

15.

Two distinct WT1 mutations identified in patients and relatives with isolated nephrotic proteinuria.

Guaragna MS, Lutaif AC, Piveta CS, Belangero VM, Maciel-Guerra AT, Guerra G Jr, De Mello MP.

Biochem Biophys Res Commun. 2013 Nov 15;441(2):371-6. doi: 10.1016/j.bbrc.2013.10.064. Epub 2013 Oct 22.

PMID:
24161391
16.

A familial WT1 mutation associated with incomplete Denys-Drash syndrome.

Zhu C, Zhao F, Zhang W, Wu H, Chen Y, Ding G, Zhang A, Huang S.

Eur J Pediatr. 2013 Oct;172(10):1357-62. doi: 10.1007/s00431-013-2004-9. Epub 2013 May 29.

PMID:
23715653

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