Works matching DE "WAGR syndrome"

Results: 33

Nephroblastoma-specific dysregulated gene SNHG15 with prognostic significance: scRNA-Seq with bulk RNA-Seq data and experimental validation.

Published in:

Discover Oncology, 2024, v. 15, n. 1, p. 1, doi. 10.1007/s12672-024-00946-w

By:

Chang, Mengmeng;
Li, Ding;
Su, Li;
Ding, Chen;
Lu, Zhiyi;
Gao, Hongjie;
Sun, Fengyin

Publication type:

Article

Dysgerminoma developing from an ectopic ovary in a patient with WAGR syndrome: A case report.

Published in:

2016

By:

RIE MIURA;
YOSHIHITO YOKOYAMA;
TATSUHIKO SHIGETO;
MASAYUKI FUTAGAMI;
HIDEKI MIZUNUMA;
AKIRA KUROSE;
KAZUSHI TSURUGA;
SHINYA SASAKI;
KIMINORI TERUI;
ETSURO ITO

Publication type:

Case Study

Epidemiology of PAX6 Gene Pathogenic Variants and Expected Prevalence of PAX6 -Associated Congenital Aniridia across the Russian Federation: A Nationwide Study.

Published in:

Genes, 2023, v. 14, n. 11, p. 2041, doi. 10.3390/genes14112041

By:

Vasilyeva, Tatyana A.;
Marakhonov, Andrey V.;
Voskresenskaya, Anna A.;
Kadyshev, Vitaly V.;
Sukhanova, Natella V.;
Minzhenkova, Marina E.;
Shilova, Nadezhda V.;
Latyshova, Alla A.;
Ginter, Evgeny K.;
Kutsev, Sergey I.;
Zinchenko, Rena A.

Publication type:

Article

Conventional and molecular cytogenetic characterization of a Moroccan patient with WAGR syndrome.

Published in:

Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00514-5

By:

Chbel, Faiza;
Hamdaoui, Hasna;
Mossafa, Houssein;
Ouldim, Karim;
Benrahma, Houda

Publication type:

Article

Bilateral Peters' anomaly, aniridia and Wilms tumour (WAGR syndrome) in monozygotic twins.

Published in:

Acta Paediatrica, 2024, v. 113, n. 6, p. 1420, doi. 10.1111/apa.17160

By:

Cronemberger, Sebastião;
Albuquerque, Anna L. B.;
Simões e. Silva, Ana Cristina;
Soares Santos Zanini, Jovita Lane;
Gonçalves da Silva, Alexandre Higino;
Barbosa, Luciana F.;
Rubião, Francine da Cunha;
de Lima, Felipe L.;
Fonseca Casimiro, Rossana;
Placedino Martins, Márcio;
Diniz-Filho, Alberto;
Bastos Rodrigues, Luciana;
Friedman, Eitan;
De Marco, Luiz

Publication type:

Article

Anaesthetic management for a patient with WAGR syndrome.

Published in:

Anaesthesia, 2001, v. 56, n. 12, p. 1203, doi. 10.1046/j.1365-2044.2001.02369-24.x

By:

Yanagidate, F.;
Dohi, S.;
Iizawa, A.

Publication type:

Article

Characterization of 11p14-p12 deletion in WAGR syndrome by array CGH for identifying genes contributing to mental retardation and autism.

Published in:

Cytogenetic & Genome Research, 2008, v. 122, n. 2, p. 181, doi. 10.1159/000172086

By:

Xu, S.;
Han, J. C.;
Morales, A.;
Menzie, C. M.;
Williams, K.;
Fan, Y-S.

Publication type:

Article

Congenital Bilateral Aniridia with Ectopia Lentis: A Case Report.

Published in:

Journal of Clinical & Diagnostic Research, 2024, v. 18, n. 3, p. 1, doi. 10.7860/JCDR/2024/66990.19177

By:

MALLAREDDY, VIJAYA;
DAIGAVANE, SACHIN;
SHINDE, PRANAY KUMAR

Publication type:

Article

Potocki‐Shaffer syndrome revealed in a WAGR syndrome case with multiple exostoses.

Published in:

2023

By:

Yaga, Takeshi;
Iguchi, Akihiro;
Nakayama, Robert;
Kosaki, Rika;
Ishiguro, Akira

Publication type:

Case Study

Comprehensive Analysis of Congenital Aniridia and Differential Diagnoses: Genetic Insights and Clinical Manifestations.

Published in:

Ophthalmology & Therapy, 2025, v. 14, n. 5, p. 835, doi. 10.1007/s40123-025-01122-1

By:

Hall, Jonathan;
Corton, Marta;
Fries, Fabian Norbert;
Obst, Jessica;
Grünauer-Kloevekorn, Clara;
Seitz, Berthold;
Waizel, Maria della Volpe;
Jávorszky, Eszter;
Tory, Kálmán;
Maka, Erika;
Amini, Maryam;
Suiwal, Shweta;
Stachon, Tanja;
Szentmáry, Nóra

Publication type:

Article

Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH.

Published in:

PLoS ONE, 2017, v. 12, n. 2, p. 1, doi. 10.1371/journal.pone.0172363

By:

Blanco-Kelly, Fiona;
Palomares, María;
Vallespín, Elena;
Villaverde, Cristina;
Martín-Arenas, Rubén;
Vélez-Monsalve, Camilo;
Lorda-Sánchez, Isabel;
Nevado, Julián;
Trujillo-Tiebas, María José;
Lapunzina, Pablo;
Ayuso, Carmen;
Corton, Marta

Publication type:

Article

Lipid Metabolic Reprogramming in Embryonal Neoplasms with MYCN Amplification.

Published in:

Cancers, 2023, v. 15, n. 7, p. 2144, doi. 10.3390/cancers15072144

By:

Talapatra, Jyotirmayee;
Reddy, Mamatha M.

Publication type:

Article

A case of WAGR syndrome in association with developmental glaucoma requiring bilateral Baerveldt glaucoma implants and subsequent tube repositioning.

Published in:

Clinical Ophthalmology, 2015, v. 9, p. 1081, doi. 10.2147/OPTH.S80444

By:

Tadamichi Akagi;
Munemitsu Yoshikawa;
Hideo Nakanishi;
Nagahisa Yoshimura

Publication type:

Article

Seminoma in 46, XY Gonadal Dysgenesis: Rare Presentation and Review of the Literature.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2024, v. 16, n. 4, p. 495, doi. 10.4274/jcrpe.galenos.2023.2023-12-11

By:

Adra, Maamoun;
Hayato Nakanishi;
Papachristodoulou, Eleni;
Karaoli, Evangelia;
Gerasimou, Petroula;
Miltiadous, Antri;
Nicolaou, Katerina;
Loizou, Loizos;
Skordis, Nicos

Publication type:

Article

Clinical utility gene card for: WAGR syndrome.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 4, p. 1, doi. 10.1038/ejhg.2010.220

By:

Clericuzio, Carol;
Hingorani, Melanie;
Crolla, John A.;
van Heyningen, Veronica;
Verloes, Alain

Publication type:

Article

A Rare Case With Aniridic Fibrosis Syndrome After Iris Diaphragm Intraocular Lens and Ahmed Valve Implantation in a Patient With WAGR Syndrome.

Published in:

2017

By:

EKŞİOĞLU, Ümit;
YAKIN, Mehmet;
ACAR, Mehmet;
DUMAN, Melih;
ÖRNEK, Firdevs

Publication type:

Case Study

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

Correction to: Risk factors for post-nephrectomy hypotension in pediatric patients.

Published in:

2021

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:

Correction Notice

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

Correction: The WAGR syndrome gene PRRG4 is a functional homologue of the commissureless axon guidance gene.

Published in:

2017

By:

Justice, Elizabeth D.;
Barnum, Sarah J.;
Kidd, Thomas

Publication type:

Correction Notice

The WAGR syndrome gene PRRG4 is a functional homologue of the commissureless axon guidance gene.

Published in:

PLoS Genetics, 2017, v. 13, n. 8, p. 1, doi. 10.1371/journal.pgen.1006865

By:

Justice, Elizabeth D.;
Barnum, Sarah J.;
Kidd, Thomas

Publication type:

Article

Rare case of stromal predominant Wilm's tumour with rhabdomyoblastic differentiation in FNAC smears.

Published in:

2025

By:

Gupta, Anjali;
Srinivasan, Radhika;
Rohilla, Manish;
Kakkar, Nandita;
Peters, Nitin J.

Publication type:

Case Study

WAGR syndrome in a Nepalese male child.

Published in:

2016

By:

R. P., Chaudhary;
M., Chaudhary

Publication type:

Case Study

Sustained endocrine profiles of a girl with WAGR syndrome.

Published in:

2017

By:

Yui Takada;
Yasunari Sakai;
Yuki Matsushita;
Kazuhiro Ohkubo;
Yuhki Koga;
Satoshi Akamine;
Michiko Torio;
Yoshito Ishizaki;
Masafumi Sanefuji;
Hiroyuki Torisu;
Shaw, Chad A.;
Masayo Kagami;
Toshiro Hara;
Shouichi Ohga

Publication type:

Case Study

Prenatal Diagnosis of WAGR Syndrome.

Published in:

Case Reports in Obstetrics & Gynecology, 2015, p. 1, doi. 10.1155/2015/928585

By:

Tezcan, Berrin;
Rich, Philip;
Bhide, Amarnath

Publication type:

Article

Giant benign lymphangioendothelioma.

Published in:

Journal of Cutaneous Pathology, 2012, v. 39, n. 10, p. 950, doi. 10.1111/j.1600-0560.2012.01971.x

By:

Revelles, Juan M.;
Díaz, Jose L.;
Angulo, Jorge;
Santonja, Carlos;
Kutzner, Heinz;
Requena, Luis

Publication type:

Article

A submicroscopic deletion of 11p13 associated with the WAGR syndrome.

Published in:

Clinical Genetics, 2003, v. 63, n. 4, p. 319, doi. 10.1034/j.1399-0004.2003.00051.x

By:

Nanclares, Guiomar Pérez de;
Martínez, Francisco;
Bilbao, Jose Ramon;
Navajas, Aurora;
Martínez, Ricardo;
López-Arístegui, M;
Castaño, Luis

Publication type:

Article

Complex Chromosomal Rearrangement Involving Chromosomes 10 and 11, Accompanied by Two Adjacent 11p14.1p13 and 11p13p12 Deletions, Identified in a Patient with WAGR Syndrome.

Published in:

2023

By:

Marakhonov, Andrey V.;
Vasilyeva, Tatyana A.;
Minzhenkova, Marina E.;
Sukhanova, Natella V.;
Sparber, Peter A.;
Andreeva, Natalya A.;
Teleshova, Margarita V.;
Baybagisova, Fatima K.-M.;
Shilova, Nadezhda V.;
Kutsev, Sergey I.;
Zinchenko, Rena A.

Publication type:

Case Study

PRRG4 Brain-Specific Conditional Knockout Mice Display Autism Spectrum Disorder-Like Behaviors.

Published in:

Biological Procedures Online, 2025, v. 27, n. 1, p. 1, doi. 10.1186/s12575-025-00280-7

By:

Shen, Luxi;
Chen, Lan;
Tang, Yuping;
Yan, Yeyao;
Xiong, Ting;
Liu, Yong;
Li, Hongzhi;
Gu, Haihua

Publication type:

Article

Neuronal expression in Drosophila of an evolutionarily conserved metallophosphodiesterase reveals pleiotropic roles in longevity and odorant response.

Published in:

PLoS Genetics, 2023, v. 19, n. 9, p. 1, doi. 10.1371/journal.pgen.1010962

By:

Gupta, Kriti;
Chakrabarti, Sveta;
Janardan, Vishnu;
Gogia, Nishita;
Banerjee, Sanghita;
Srinivas, Swarna;
Mahishi, Deepthi;
Visweswariah, Sandhya S.

Publication type:

Article

Wilms Tümörü: Tek Merkezin 32 Yıllık Deneyimleri ile Güncel Literatürün Gözden Geçirilmesi.

Published in:

Medical Journal of Istanbul Kanuni Sultan Süleyman / İstanbul Kanuni Sultan Süleyman Tıp Dergisi, 2021, v. 13, n. 3, p. 207, doi. 10.4274/iksstd.2021.81557

By:

Özaydın, Seyithan;
Karaaslan, Birgül

Publication type:

Article

Pineal hypoplasia, reduced melatonin and sleep disturbance in patients with PAX6 haploinsufficiency.

Published in:

Journal of Sleep Research, 2016, v. 25, n. 1, p. 16, doi. 10.1111/jsr.12345

By:

Hanish, Alyson E.;
Butman, John A.;
Thomas, Francine;
Yao, Jianhua;
Han, Joan C.

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