Works matching DE "DENYS-Drash syndrome"

Results: 30

WT1-Related Nephropathy in a Phenotypically Female Child: A Case of Clinical and Genetic Discordance.

Published in:

Children, 2025, v. 12, n. 5, p. 595, doi. 10.3390/children12050595

By:

Costin, Mariana;
Cinteză, Eliza Elena;
Croitoru, Anca;
Popa, Ionela-Loredana;
Stanciu, Alexandra;
Popescu, Irina;
Petre, Nicoleta;
Olivotto, Bettyna;
Căpitănescu, Andrei;
Resceanu, Sofia;
Cotfasa, Elena;
Bologa, Cristina

Publication type:

Article

Discordant phenotypes in monozygotic twins with identical de novo WT1 mutation.

Published in:

Clinical Kidney Journal, 2012, v. 5, n. 3, p. 221

By:

Yu, Zihua;
Yang, Yonghui;
Feng, Dongning

Publication type:

Article

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

By:

Zhu, Chunhua;
Zhao, Fei;
Zhang, Weizhen;
Wu, Hongmei;
Chen, Ying;
Ding, Guixia;
Zhang, Aihua;
Huang, Songming

Publication type:

Article

A child with isolated nephrotic syndrome and WT1 mutation presenting as a 46, XY phenotypic male.

Published in:

European Journal of Pediatrics, 2013, v. 172, n. 1, p. 127, doi. 10.1007/s00431-012-1770-0

By:

Yang, Yonghui;
Feng, Dongning;
Huang, Jun;
Nie, Xiaojing;
Yu, Zihua

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:

Stefanidis, Constantinos;
Querfeld, Uwe;
Stefanidis, Constantinos J

Publication type:

journal article

A girl with bilateral ovarian tumours: Frasier syndrome.

Published in:

2002

By:

Shimoyama, Hironobu;
Nakajima, Mitsuru;
Naka, Hiroyuki;
Park, Yong-Dong;
Hori, Kensuke;
Morikawa, Hajime;
Yoshioka, Akira

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

By:

Stevens, Megan;
Oltean, Sebastian

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

By:

Hillen, Lisa Maria;
Kamsteeg, Erik Jan;
Schoots, Jeroen;
Tiebosch, Anton Tom;
Speel, Ernst Jan;
Roemen, Guido M.;
Peutz-Koostra, Carine J.;
Stumpel, Constance T.R.M.

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

By:

Hillen, Lisa Maria;
Kamsteeg, Erik Jan;
Schoots, Jeroen;
Tiebosch, Anton Tom;
Speel, Ernst Jan;
Roemen, Guido M.;
Peutz-Koostra, Carine J.;
Stumpel, Constance T.R.M.

Publication type:

Article

Denys-Drash syndrome, septated vagina and low level of anti-Mullerian hormone in male neonate.

Published in:

2014

By:

Hong Jun Lee;
Jung-Sook Yeom;
Ji Sook Park;
Eun Sil Park;
Ji-Hyun Seo;
Jae Young Lim;
Chan-Hoo Park;
Hyang-Ok Woo;
Hee-Shang Youn

Publication type:

Case Study

<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

By:

Mazen, Inas;
Hassan, Heba;
Kamel, Alaa;
Mekkawy, Mona;
McElreavey, Ken;
Essawi, Mona

Publication type:

Article

Unusual Presentation of Denys-Drash Syndrome in a Girl with Undisclosed Consumption of Biotin.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2021, v. 13, n. 3, p. 347, doi. 10.4274/jcrpe.galenos.2020.2020.0064

By:

Bizzarri, Carla;
Giannone, Germana Antonella;
Gervasoni, Jacopo;
Benedetti, Sabina;
Albanese, Federica;
Strologo, Luca Dello;
Guzzo, Isabella;
Mucciolo, Mafalda;
Camassei, Francesca Diomedi;
Emma, Francesco;
Cappa, Marco;
Porzio, Ottavia

Publication type:

Article

Discordant phenotypes in monozygotic twins with identical de novo WT1 mutation.

Published in:

Nephrology Dialysis Transplantation, 2012, v. 5, n. 3, p. 221

By:

Yu, Zihua;
Yang, Yonghui;
Feng, Dongning

Publication type:

Article

WT1-related disorders: more than Denys-Drash syndrome.

Published in:

Pediatric Nephrology, 2024, v. 39, n. 9, p. 2601, doi. 10.1007/s00467-024-06302-y

By:

Lopez-Gonzalez, Mercedes;
Ariceta, Gema

Publication type:

Article

Prophylactic bilateral nephrectomy and preemptive kidney transplantation for Denys–Drash syndrome prior to development of kidney failure.

Published in:

Pediatric Nephrology, 2024, v. 39, n. 3, p. 905, doi. 10.1007/s00467-023-06113-7

By:

Hosokawa, Chika;
Hotta, Kiyohiko;
Okamoto, Takayuki;
Cho, Yuko;
Hirose, Takayuki;
Iwahara, Naoya;
Manabe, Atsushi;
Shinohara, Nobuo

Publication type:

Article

Atypical severe early-onset nephrotic syndrome: Answers.

Published in:

2022

By:

Berthaud, Romain;
Heidet, Laurence;
Oualha, Mehdi;
Brat, Roselyne;
Talmud, Déborah;
Garaix, Florentine;
Rabant, Marion;
Frémeaux-Bacchi, Véronique;
Antignac, Corinne;
Boyer, Olivia;
Dorval, Guillaume

Publication type:

Question & Answer

Atypical severe early-onset nephrotic syndrome: Questions.

Published in:

2022

By:

Berthaud, Romain;
Heidet, Laurence;
Oualha, Mehdi;
Brat, Roselyne;
Talmud, Déborah;
Garaix, Florentine;
Rabant, Marion;
Frémeaux-Bacchi, Véronique;
Antignac, Corinne;
Boyer, Olivia;
Dorval, Guillaume

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

By:

Falcone, Maria Pia;
Pritchard-Jones, Kathryn;
Brok, Jesper;
Mifsud, William;
Williams, Richard D.;
Nakata, Kayo;
Tugnait, Suzanne;
Al-Saadi, Reem;
Side, Lucy;
Anderson, John;
Duncan, Catriona;
Marks, Stephen D.;
Bockenhauer, Detlef;
Chowdhury, Tanzina

Publication type:

Article

Risk factors for post-nephrectomy hypotension in pediatric patients.

Published in:

Pediatric Nephrology, 2021, v. 36, n. 11, p. 3699, doi. 10.1007/s00467-021-05115-7

By:

Nishi, Kentaro;
Kamei, Koichi;
Ogura, Masao;
Sato, Mai;
Ishiwa, Sho;
Shioda, Yoko;
Kiyotani, Chikako;
Matsumoto, Kimikazu;
Nozu, Kandai;
Ishikura, Kenji;
Ito, Shuichi

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

By:

Carter, Sean;
Dixit, Abhijit;
Lunn, Andrew;
Deorukhkar, Anjum;
Christian, Martin

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:

Thomas, R. L.;
Foster, B. J.;
Torronen, S.

Publication type:

Case Study

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

By:

da Silva, Thatiana;
Nishi, Mirian;
Costa, Elaine;
Martin, Regina;
Carvalho, Filomena;
Mendonca, Berenice;
Domenice, Sorahia

Publication type:

Report

Synchronous bilateral wilms tumor: Five-year single-center experience with assessment of quality of life.

Published in:: 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:

Modi, Jayesh;
Modi, Pranjal;
Pal, Bipinchandra;
Kumar, Suresh

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

By:

Agarwala, Sandeep;
Mittal, Deepak;
Bhatnagar, Veereshwar;
Srinivas, M.;
Bakhshi, Sameer;
Bajpai, Minu;
Gupta, Devendra Kumar;
Iyer, V. K.;
Mohanti, Bidyut K.;
Thulkar, Sanjay

Publication type:

Article

Renal Failure and Atypical Genital Appearance in a Critically Ill Infant.

Published in:

2024

By:

Chainani, Sanjay;
Sabnani, Reshma;
Horgan, Megan;
Gupta, Neena

Publication type:

Case Study

WT1 Deletion Leading to Severe 46,XY Gonadal Dysgenesis, Wilms Tumor and Gonadoblastoma: Case Report.

Published in:

Hormone Research in Paediatrics, 2015, v. 83, n. 3, p. 211, doi. 10.1159/000368964

By:

Finken, Martijn J.J.;
Hendriks, Yvonne M.C.;
van der Voorn, J. Patrick;
Veening, Margreet a.;
Lombardi, M. Paola;
Rotteveel, Joost

Publication type:

Article

Denys-Drash Syndrome.

Published in:

Applied Radiology, 2021, v. 50, n. 5, p. 61, doi. 10.37549/ar2762

By:

Grewal, Shivraj S.;
Towbin, Richard B.;
Yinan Li;
Geller, James I.;
Towbin, Alexander J.

Publication type:

Article

Management of bilateral Wilms tumours.

Published in:

2017

By:

Millar, Alastair;
Cox, Sharon;
Davidson, Alan;
Millar, Alastair J W

Publication type:

journal article

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

Published in:

2017

By:

Alge, Joseph L.;
Wenderfer, Scott E.;
Hicks, John;
Bekheirnia, Mir Reza;
Schady, Deborah A.;
Kain, Jamey S.;
Braun, Michael C.

Publication type:

journal article