Works matching Denys-Drash syndrome

Results: 142

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

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

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

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

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

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

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

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

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

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

Clinical Pictures and Novel Mutations of WT1-Associated Denys-Drash Syndrome in Two Chinese Children.

Published in:

Renal Failure, 2011, v. 33, n. 9, p. 910, doi. 10.3109/0886022X.2011.605528

By:

Yue, Zhihui;
Pei, Yuanyuan;
Sun, Liangzhong;
Huang, Weijun;
Huang, Han;
Hu, Bin;
Yang, Juan;
Jiang, Xiaoyun;
Mo, Ying;
Chen, Shumei;
Lai, Kar Neng;
Wang, Yiming

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

Outcome of renal transplantation for Wilms’ tumor and Denys–Drash syndrome: A report of the North American Pediatric Renal Transplant Cooperative Study.

Published in:

Pediatric Transplantation, 2005, v. 9, n. 3, p. 305, doi. 10.1111/j.1399-3046.2005.00311.x

By:

Kist-van Holthe, Joana E.;
Ho, Ping L.;
Stablein, Donald;
Harmon, William E.;
Baum, Michelle A.

Publication type:

Article

Hydrothorax in a patient with Denys-Drash syndrome associated with a diaphragmatic defect.

Published in:

Pediatric Nephrology, 2006, v. 21, n. 12, p. 1909, doi. 10.1007/s00467-006-0273-5

By:

Hee Yeon Cho;
Byong Sop Lee;
Chang Hyun Kang;
Woong-Han Kim;
Il Soo Ha;
Hae Il Cheong;
Young Choi

Publication type:

Article

Refractory Hypertension in Infantile-Onset Denys-Drash Syndrome.

Published in:

Tohoku Journal of Experimental Medicine, 2020, v. 252, n. 1, p. 45, doi. 10.1620/tjem.252.45

By:

Kentaro Nishi;
Koichi Kamei;
Masao Ogura;
Mai Sato;
Miki Murakoshi;
Chikako Kamae;
Ryutaro Suzuki;
Toru Kanamori;
China Nagano;
Kandai Nozu;
Kenji Ishikura;
Shuichi Ito

Publication type:

Article

Regulation of renal EGF receptor expression is normal in Denys-Drash syndrome.

Published in:

Kidney International, 1997, v. 52, n. 3, p. 614, doi. 10.1038/ki.1997.374

By:

Vicanek, Caroline;
Ferretti, Emanuela;
Goodyer, Cynthia;
Torban, Elena;
Moffett, Peter;
Pelletier, Jerry;
Goodyer, Paul

Publication type:

Article

Denys-Drash Syndrome with Neonatal Renal Failure in Monozygotic Twins Due to C.1097G>A Mutation in the WT1 Gene.

Published in:

Fetal & Pediatric Pathology, 2011, v. 30, n. 4, p. 266, doi. 10.3109/15513815.2011.555814

By:

Furtado, Larissa V.;
Pysher, Theodore;
Opitz, John;
Lamb, Randy;
Comstock, Jessica;
Batish, Sat;
Mauch, Teri;
Nelson, Raoul;
Zhou, Holly

Publication type:

Article

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

Published in:

Sexual Development, 2017, v. 11, n. 1, p. 34, doi. 10.1159/000454821

By:

Guaragna, Mara S.;
Ribeiro de andrade, Juliana G.;
de Freitas Carli, Bárbara;
Belangero, Vera M.S.;
Maciel-Guerra, andréa T.;
Guerra-Júnior, Gil;
de Mello, Maricilda P.

Publication type:

Article

Case Report: Denys -- Drash Syndrome.

Published in:

2007

By:

Ammari, A. B.;
Fung, D. E.

Publication type:

Case Study

Clinical course of congenital nephrotic syndrome and Denys-Drash syndrome in Japan.

Published in:

Pediatrics International, 2005, v. 47, n. 6, p. 607, doi. 10.1111/j.1442-200x.2005.02139.x

By:

Motoyama, Osamu;
Arai, Kenji;
Kawamura, Takeshi;
Aikawa, Atsushi;
Ohara, Takehiro;
Iitaka, Kikuo;
Hasegawa, Akira

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

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

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

Bilateral Wilms' tumor in a child with Denys-Drash syndrome: novel frameshift variant disrupts the WT1 nuclear location signaling region.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2022, v. 35, n. 6, p. 837, doi. 10.1515/jpem-2021-0673

By:

Guaragna, Mara Sanches;
Ledesma, Felipe Lourenço;
Manzano, Victoria Zavanelli;
Maciel-Guerra, Andréa Trevas;
Guerra-Júnior, Gil;
Silva, Marcelo Milone;
Luiz de Brito, Pedro;
Palandi de Mello, Maricilda

Publication type:

Article

Early presentation of bilateral gonadoblastomas in a Denys-Drash syndrome patient: a cautionary tale for prophylactic gonadectomy.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2013, v. 26, n. 9/10, p. 971, doi. 10.1515/jpem-2012-0409

By:

Patel, Payal R.;
Pappas, John;
Arva, Nicoleta C.;
Franklin, Bonita;
Brar, Preneet Cheema

Publication type:

Article

Association of Partial Gonadal Dysgenesis, Nephropathy and WT1 Gene Mutation Without Wilms' Tumor: Incomplete Denys-Drash Syndrome.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2001, v. 14, n. 5, p. 561, doi. 10.1515/jpem.2001.14.5.561

By:

Çetinkaya, Ergun;
Öcal, Gönül;
Berberoglu, Merih;
Adiyaman, Pelin;
Ekim, Mesiha;
Yaçinkaya, Fatoş;
Örün, Emel

Publication type:

Article

Single-cell transcriptomes of kidneys in a 6-month-old boy with Denys-Drash syndrome reveal stromal cell heterogeneity in the tumor microenvironment.

Published in:

Clinical Kidney Journal, 2024, v. 17, n. 1, p. 1, doi. 10.1093/ckj/sfad277

By:

Li, Tao;
Zhou, Jiangfeng;
Wu, Haiyan;
Gao, Xiucheng;
Shen, Qiyang;
Cheng, Rui;
Zhang, Mingshun

Publication type:

Article

Focal Segmental Membranoproliferative Glomerulonephritis: A Histological Variant of Denys-Drash Syndrome.

Published in:

Fetal & Pediatric Pathology, 2021, v. 40, n. 2, p. 113, doi. 10.1080/15513815.2019.1686788

By:

Karmila, A. B.;
Yap, Y. C.;
Appadurai, M.;
Oh, L.;
Fazarina, M.;
Abd Ghani, F.;
Ariffin, H.

Publication type:

Article

Aberrant proteoglycan composition of the glomerular basement membrane in a patient with Denys-Drash syndrome.

Published in:

Nephrology Dialysis Transplantation, 1995, v. 10, n. 12, p. 2205

By:

van den Heuvel, L. P. W. J.;
Westenend, P. J.;
van den Born, J.;
Assmann, K. J. M.;
Knoers, N.;
Monnens, L. A. H.

Publication type:

Article

A novel mutation ofWT1exon 9 in a patient with Denys-Drash syndrome and pyloric stenosis.

Published in:

Pediatric Nephrology, 2004, v. 19, n. 10, p. 1160, doi. 10.1007/s00467-004-1564-3

By:

Hu, Min;
Craig, Jonathon;
Howard, Neville;
Kan, Alex;
Chaitow, Jeffrey;
Little, Dianne;
Alexander, Stephen I.

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

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

Frasier syndrome, part of the Denys Drash continuum or simply a WT1 gene associated disorder of intersex and nephropathy?

Published in:

Clinical Endocrinology, 2000, v. 52, n. 4, p. 519, doi. 10.1046/j.1365-2265.2000.00980.x

By:

Koziell;
Charmandari;
Hindmarsh;
Rees;
Scambler;
Brook;
Charmandari, Evangelia

Publication type:

Article

Hemolytic uremic syndrome associated with Denys-Drash syndrome.

Published in:

Pediatric Nephrology, 2000, v. 14, n. 12, p. 1092, doi. 10.1007/s004670000389

By:

Sherbotie, J. R.;
van Heyningen, V.;
Axton, R.;
Williamson, K.;
Finn, L. S.;
Kaplan, B. S.

Publication type:

Article

In utero nephropathy, Denys-Drash syndrome and Potter phenotype.

Published in:

Pediatric Nephrology, 1998, v. 12, n. 6, p. 449, doi. 10.1007/s004670050485

By:

Maalouf, E. F.;
Ferguson, J.;
van Heyningen, V.;
Modi, N.

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

<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

WT1 GENE MUTATIONS IN DENYS-DRASH AND FRASIER SYNDROME.

Published in:

Nephrology, 2000, v. 5, n. 3, p. A110, doi. 10.1046/j.1440-1797.2000.abs176.x

By:

Sj, McTaggart;
E, Algar;
Cw, Chow;
Hr, Powell;
CL., Jones

Publication type:

Article

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

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

Testicular Preservation in 46 XY Denys-Drash Syndrome: A Report of Two Cases.

Published in:

Urologia Internationalis, 2019, v. 102, n. 3, p. 367, doi. 10.1159/000490552

By:

Hodhod, Amr;
Noureldin, Yasser A.;
El-Sherbiny, Mohamed

Publication type:

Article

Renal transplantation in the management of bilateral Wilms' tumour (BWT) and of Denys-Drash syndrome (DDS).

Published in:

Nephrology Dialysis Transplantation, 1998, v. 13, n. 6, p. 1506, doi. 10.1093/ndt/13.6.1506

By:

Rudin, C;
Pritchard, J;
Fernando, ON;
Duffy, PG;
Trompeter, RS

Publication type:

Article

Murine Denys–Drash syndrome: evidence of podocyte de-differentiation and systemic mediation of glomerulosclerosis.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 18, p. 2379, doi. 10.1093/hmg/ddg240

By:

Patek, Charles E.;
Fleming, Stewart;
Miles, Colin G.;
Bellamy, Christopher O.;
Ladomery, Michael;
Spraggon, Lee;
Mullins, John;
Hastie, Nicholas D.;
Hooper, Martin L.

Publication type:

Article

DNA binding capacity of the WT1 protein is abolished by Denys—Drash syndrome WT1 point mutations.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 3, p. 351

By:

Little, Melissa;
Holmes, Gregory;
Bickmore, Wendy;
van Heyningen, Veronica;
Hastie, Nicholas;
Wainwright, Brandon

Publication type:

Article

Detailed clinical manifestations at onset and prognosis of neonatal-onset Denys–Drash syndrome and congenital nephrotic syndrome of the Finnish type.

Published in:

Clinical & Experimental Nephrology, 2019, v. 23, n. 8, p. 1058, doi. 10.1007/s10157-019-01732-7

By:

Nishi, Kentaro;
Inoguchi, Tomohiro;
Kamei, Koichi;
Hamada, Riku;
Hataya, Hiroshi;
Ogura, Masao;
Sato, Mai;
Yoshioka, Takako;
Ogata, Kentaro;
Ito, Shuichi;
Nakanishi, Koichi;
Nozu, Kandai;
Hamasaki, Yuko;
Ishikura, Kenji

Publication type:

Article

Denys–Drash syndrome (DDS): answer.

Published in:

Pediatric Nephrology, 2006, v. 21, n. 9, p. 1239, doi. 10.1007/s00467-006-0183-6

By:

Alomari, Ahmad;
Tham, Jacques

Publication type:

Article

AWT1exon 1 mutation in a child diagnosed with Denys-Drash syndrome.

Published in:

Pediatric Nephrology, 2005, v. 20, n. 1, p. 81, doi. 10.1007/s00467-004-1649-z

By:

Little, Suzanne;
Hanks, Sandra;
King-Underwood, Linda;
Picton, Sue;
Cullinane, Catherine;
Rapley, Elizabeth;
Rahman, Nazneen;
Pritchard-Jones, Kathy

Publication type:

Article

Novel WT1 mutation (C388Y) in a female child with Denys-Drash syndrome.

Published in:

Pediatric Nephrology, 2001, v. 16, n. 8, p. 627, doi. 10.1007/s004670100626

By:

Swiatecka-Urban, Agnieszka;
Mokrzycki, Michele H.;
Kaskel, Frederick;
Da Silva, Francis;
Denamur, E.

Publication type:

Article