Results 61 to 70 of about 5,544 (177)

Survival for Children Diagnosed With Wilms Tumour (2012–2022) Registered in the UK and Ireland Improving Population Outcomes for Renal Tumours of Childhood (IMPORT) Study

Pediatric Blood &Cancer, Volume 73, Issue 3, March 2026.
ABSTRACT Background The Improving Population Outcomes for Renal Tumours of childhood (IMPORT) is a prospective clinical observational study capturing detailed demographic and outcome data on children and young people diagnosed with renal tumours in the United Kingdom and the Republic of Ireland.
Naomi Ssenyonga, Angela Lopez‐Cortes, Reem Al‐Saadi, Suzanne Tugnait, Kristina Dzhuma, Catriona Duncan, Gordan Vujanic, Tanzina Chowdhury, Claudia Allemani, Michel P. Coleman, Kathy Pritchard‐Jones, the Children's Cancer and Leukaemia Group (CCLG) Renal Tumour Special Interest Group, Hugh Bishop, Anthony McCarthy, Pamela Kearns, Helen Rees, Amos Burke, Meriel Jenney, Jane Pears, Hamish Wallace, Milind Ronghe, Tanzina Chowdhury, Susan Picton, Emma Ross, Lisa Howell, Bernadette Brennan, Gail Halliday, Richard Grundy, Shaun Wilson, Sucheta Vaidya, Daniel Yeomanson, Jessica Bate, Vesna Pavasovic, Jessica Bate, Sabine Irtan, Jesper Brok, Minou Oostveen, Kristina Dzhuma, Mark Weeks, Richard Williams, Mark Powis, Max Pachl, Bruce Okoye, Naima Smeulders, Gordan Vujanic, Oystein Olsen, Tom Watson, Susan Shelmerdine, Dan Saunders, Angela Lopez-Cortes, Taryn Treger, Tom Jackson, Suzanne Tugnait, Lisa Howell, Tanzina Chowdhury, Sam Behjati, Angela Polanco   +56 more
wiley   +1 more source

An ITPR1 Variant in the IP3‐ITPR1 Binding Pocket Associated With a Clinical Phenotype of Athetoid Cerebral Palsy

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 459-467, February 2026.
ABSTRACT A de novo, missense variant in ITPR1‐inositol 1,4,5‐trisphosphate receptor type 1 (ITPR1), p.(Tyr567Cys), was identified by trio whole‐genome sequencing in an individual diagnosed with Spinocerebellar ataxia 29 (SCA29) who was affected by cerebral palsy and global developmental delay.
Thania Ordaz, Jagadish Chandrabose Sundaramurthi, Adam S. Arterbery, Anita M. Bagley, Michael A Gargano, Jeremy P Bauer, Daniel Danis, Philip Giampietro, Ellen Raney, Lauren Rekerle, Mallory Shingle, Jon R. Davids, Peter N. Robinson   +12 more
wiley   +1 more source

Genetic analysis using next-generation sequencing and multiplex ligation probe amplification in Chinese aniridia patients

Orphanet Journal of Rare Diseases
Background Congenital aniridia is a rare pan-ocular disease characterized by complete irideremia, partial iridocoloboma. The progressive nature of aniridia is frequently accompanied by secondary ocular complications such as glaucoma and aniridia ...
Li Wang, Qingdan Xu, Wentao Wang, Xinghuai Sun, Yuhong Chen   +4 more
doaj   +1 more source

Restoration of functional PAX6 in aniridia patient iPSC-derived ocular tissue models using repurposed nonsense suppression drugs

Molecular Therapy: Nucleic Acids, 2023
Congenital aniridia is a rare, pan-ocular disease causing severe sight loss, with only symptomatic intervention offered to patients. Approximately 40% of aniridia patients present with heterozygous nonsense variants in PAX6, resulting in ...
Dulce Lima Cunha, Hajrah Sarkar, Jonathan Eintracht, Philippa Harding, Jo Huiqing Zhou, Mariya Moosajee   +5 more
doaj   +1 more source

Nephrotic–Nephritic Syndrome Following Unilateral Nephrectomy in Wilms Tumour in a Child

Case Reports in Nephrology, Volume 2026, Issue 1, 2026.
Background Wilms tumour (WT) represents the most frequent kidney malignant tumour in the paediatric population and is occasionally linked to specific congenital syndromes. Treatment typically includes multimodal therapy consisting of chemotherapy, surgery and/or radiotherapy (RT), with a success rate of approximately 90%.
Rawshan Zuhair Jaber, Poorani Gurumallesh Prabu   +1 more
wiley   +1 more source

Effects of High Salt-Exposure on the Development of Retina and Lens in 5.5-Day Chick Embryo [PDF]

, 2014
Background/Aims: Excess maternal salt intake during pregnancy may alter fetal development. However, our knowledge on how an increased salt intake during pregnancy influences fetal eye development is limited.
Xiao-yu Wang, Manli Chuai, Guang Wang, Ma, Zheng-lai, Hocher, Berthold (Prof.), Karoline von Websky, Xuesong Yang, Chen, Yao, Wang, Guang, von Websky, Karoline, Yang, Xuesong, You-peng Chen, Chuai, Manli, Hocher, Berthold, Yao Chen, Berthold Hocher, Chen, You-peng, Wang, Xiao-yu, Zheng-lai Ma   +18 more
core   +1 more source

A novel PAX6 nonsense mutation identified in an Iranian family with various eye anomalies

Journal of Current Ophthalmology, 2018
Purpose: The aim of this study was to detect the genetic defects in a large pedigree of affected individuals with various phenotypes of ocular anomalies including partial aniridia, congenital cataract, and nystagmus.
Ali Torkashvand, Masoomeh Mohebbi, Hassan Hashemi   +2 more
doaj   +1 more source

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

PLoS ONE, 2017
Chromosomal deletions at 11p13 are a frequent cause of congenital Aniridia, a rare pan-ocular genetic disease, and of WAGR syndrome, accounting up to 30% of cases.
Fiona Blanco-Kelly, María Palomares, Elena Vallespín, Cristina Villaverde, Rubén Martín-Arenas, Camilo Vélez-Monsalve, Isabel Lorda-Sánchez, Julián Nevado, María José Trujillo-Tiebas, Pablo Lapunzina, Carmen Ayuso, Marta Corton   +11 more
doaj   +1 more source

Management of Mixed Mechanism Glaucoma Secondary to NewColorIris Implant Using an Ab Externo Xen Gel Stent

Case Reports in Ophthalmological Medicine, Volume 2026, Issue 1, 2026.
Background and Aims We present a case of mixed mechanism glaucoma following NewColorIris implant that was successfully treated using an off‐label use of Xen Gel Stent. Methods A retrospective review of the patient′s medical records was conducted following the acquisition of informed consent.
Roshun Sangani, Param Shukla, Miriam M. Habiel, Karuna Sharma   +3 more
wiley   +1 more source

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

Egyptian Journal of Medical Human Genetics
Background WAGR syndrome is a rare genetic disorder characterized by a de novo deletion of 11p13 and is usually clinically associated with Wilms’ tumor, aniridia, genitourinary anomalies, and mental retardation (W-A-G-R).
Faiza Chbel, Hasna Hamdaoui, Houssein Mossafa, Karim Ouldim, Houda Benrahma   +4 more
doaj   +1 more source