Results 61 to 70 of about 19,020 (198)

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

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

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

Congenital aniridia patients experience on their visual impairment in Hungary An ANIRIDIA-NET survey

, 2023
Introduction: Aniridia is a rare congenital panocular disease associated with varying degrees of visual acuity impair-ment. Objective: To assess the experiences of congenital aniridia patients in Hungary, with visual impairment using a ques-tionnaire ...
Kitti, Kormanyos, Annamaria, Naray,, Orsolya, Nemeth,, Annamaria, Naray, Erika, Maka,, Dietmar, Hecker, Christina, Grupcheva, Erika, Maka, Kitti, Kormanyos,, Kalman, Tory,, Nora, Szentmary, Lagali, Neil, Tanja, Stachon, Maria, Csidey,, Dorottya, Szabo,, Zsolt, Nagy Zoltan, Krisztina, Knezy,, Klaudia, Keki-Kovacs,, Zsolt, Nagy Zoltan,, Maria, Csidey, Andrea, Szigeti, Anita, Csorba,, Andrea, Szigeti,, Marta, Corton,, Nora, Szentmary,, Klaudia, Keki-Kovacs, Orsolya, Nemeth, Tanja, Stachon,, Marta, Corton, Kalman, Tory, Krisztina, Knezy, Maria, Bausz, Dietmar, Hecker,, Anita, Csorba, Christina, Grupcheva,, Lagali, Neil,, Dorottya, Szabo, Maria, Bausz,   +37 more
core   +1 more source

Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature

American Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim, Kristen N. Lee, Amanda B. Pritchard   +2 more
wiley   +1 more source

Outcomes of Trabeculectomy and Glaucoma Drainage Device Surgery in Congenital Aniridia-Associated Glaucoma: A Systematic Review and Meta-Analysis

Ophthalmology and Therapy
Introduction This study aimed to compare the surgical outcomes of trabeculectomy and glaucoma drainage device (GDD) implantation in patients with congenital aniridia.
Gábor Tóth, Shanhe Liu, Shuailin Li, Szilárd Váncsa, Mátyás Paczkó, Tamás Kói, Péter Hegyi, Nóra Szentmáry   +7 more
doaj   +1 more source

Protecting Pax6 3′ UTR from MicroRNA-7 Partially Restores PAX6 in Islets from an Aniridia Mouse Model

Molecular Therapy: Nucleic Acids, 2018
Aniridia is a rare congenital syndrome that is associated with reduced visual acuity and progressive loss of vision. Aniridia patients may also develop systemic health issues associated with defects in the pancreas, digestive, and central nervous systems.
Kevin Yongblah, Spencer C. Alford, Bridget C. Ryan, Robert L. Chow, Perry L. Howard   +4 more
doaj   +1 more source

ITPR1 Deletion in a Patient With Sensory Ataxic Neuropathy and Sjögren Syndrome

Journal of the Peripheral Nervous System, Volume 30, Issue 4, December 2025.
ABSTRACT Background Sensory ataxic neuropathies (SAN) are rare large fibre sensory neuropathies characterised by progressive sensory loss and ataxia. They may be inherited or acquired. When inherited they are more commonly seen as part of a broader syndrome involving cerebellar ataxia or mitochondrial dysfunction.
Saif Haddad, Roy Poh, Jason Hehir, James M. Polke, Julian Blake, Mary M. Reilly   +5 more
wiley   +1 more source

The genetic basis of previously unexplained aniridia [PDF]

Classical aniridia [MIM 106210] is a rare, panocular malformation characterised by a spectrum of iris and foveal hypoplasia, later complicated by cataracts, lens subluxation, glaucoma and keratopathy. It is overwhelmingly associated with PAX6 [MIM 607108]
Hall, Hildegard Nikki
core   +1 more source

Coexistence of Congenital Aniridia and Ptosis in a Patient with Neurofibromatosis Type I: A Case Report

Case Reports in Ophthalmology
Introduction: Neurofibromatosis type 1 (NF1) is a genetic disorder caused by mutations in the NF1 gene on chromosome 17q11.2. The main ocular manifestations include Lisch nodules, optic pathway gliomas, and plexiform neurofibromas, all of ...
Maura Mancini, Paola Palino, Alessandro Calderone, Giovanni W. Oliverio, Pasquale Aragona, Alessandro Meduri   +5 more
doaj   +1 more source