Results 61 to 70 of about 22,474 (255)

Congenital aniridia- there's more than meets the eye

TNOA Journal of Ophthalmic Science and Research, 2021
Congenital aniridia is a rare panocular disorder, leading to significant visual impairment which may present as an isolated ocular phenotype or in association with a systemic syndrome.
G N Subathra, Indira Durai, Sahithya Bhaskaran   +2 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

Sindrom WAGR - prikaz slučaja [PDF]

, 2009
Congenital anomaly syndrome consisting of Wilms tumor, aniridia, genitourinary malformations and mental retardation (WAGR) is a rare, sporadic genetic disorder characterized by a de novo deletion in the distal band of llp13 chromosome.
Marina Mataija, Mirta Starčević
core   +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

Detection of a novel PAX6 variant in a Chinese family with multiple ocular abnormalities

BMC Ophthalmology, 2022
Background Aniridia is a congenital, panocular disease that can affect the cornea, anterior chamber angle, iris, lens, retina and optic nerve. PAX6 loss-of-function variants are the most common cause of aniridia, and variants throughout the gene have ...
Junyi Ouyang, Ziyan Cai, Yinjie Guo, Fen Nie, Mengdan Cao, Xuanchu Duan   +5 more
doaj   +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

Contact-mediated control of radial migration of corneal epithelial cells [PDF]

, 2016
We thank Darrin Sheppard and other staff at the University of Aberdeen Medical Research Facility for specialist technical assistance. We thank Patsy D. Goast for overnight microscope monitoring.
Collinson, J Martin, Rajnicek, Ann M, Walczysko, Petr   +2 more
core   +1 more source

A novel microdeletion of 517 kb downstream of the PAX6 gene in a Chinese family with congenital aniridia

BMC Ophthalmology, 2023
Background To identify the disease-causing gene in a Chinese family affected with congenital aniridia. Methods Patients underwent systematic ophthalmic examinations such as anterior segment photography, fundus photography, optical coherence tomography ...
Yinwen Li, Jieqiong Chen, Ying Zheng, Zhixuan Chen, Tao Wang, Qian Sun, Xiaoling Wan, Haiyun Liu, Xiaodong Sun   +8 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

Germ cell and other tumors in individuals with differences in sex development

CA: A Cancer Journal for Clinicians, Volume 75, Issue 6, Page 587-601, November/December 2025.
Abstract Approximately one in 3500 to one in 5100 live‐born infants have atypical external genital development, known as differences in sex development (DSD). In 2005, an expert consensus conference thoroughly reviewed aspects of health care for individuals with DSD.
Selma Feldman Witchel, Miguel Reyes‐Múgica   +1 more
wiley   +1 more source