Evaluation of anterior segment foreign bodies with ultrasound biomicroscopy [PDF]
, 2012 INTRODUCTION: Ocular trauma is considered a health care problem because is an important cause for visual impairment. Intraocular foreign bodies are related to activities involving usage of metallic objects, but other materials can be present in the eye ...
Allemann, Norma +3 more
core +3 more sources
Congenital aniridia: clinical profile of children seen at the University College Hospital, Ibadan, South-West Nigeria [PDF]
, 2021 Mary Ogbenyi Ugalahi +3 more
openalex +1 more source
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 +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 +1 more
wiley +1 more source
Comparative Study of Xenobiotic-Free Media for the Cultivation of Human Limbal Epithelial Stem/Progenitor Cells. [PDF]
, 2017 The culture of human limbal epithelial stem/progenitor cells (LSCs) in the presence of animal components poses the risk of cross-species contamination in clinical applications.
Chen, Luxia +2 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 +2 more
wiley +1 more source
Absence of mutations in four genes encoding for congenital cataract and expressed in the human brain in Tunisian families with cataract and mental retardation [PDF]
, 2011 Background To identify the genetic defect associated with autosomal recessive congenital cataract (ARCC), mental retardation (MR) and ARCC, MR and microcephaly present in most patients in four Tunisian consanguineous families.
Manèl Chograni +5 more
core +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 +5 more
wiley +1 more source
Structural brain abnormalities in 12 persons with aniridia [version 2; referees: 2 approved]
F1000Research, 2017 Background: Aniridia is a disorder predominately caused by heterozygous loss-of-function mutations of the PAX6 gene, which is a transcriptional regulator necessary for normal eye and brain development. The ocular abnormalities of aniridia have been well
Madison K. Grant +4 more
doaj +1 more source
A WAGR region gene between PAX-6 and FSHB expressed in fetal brain [PDF]
, 1994 Developmental delay or mental retardation is a frequent component of multi-system anomaly syndromes associated with chromosomal deletions. Isolation of genes involved in the mental dysfunction in these disorders should define loci important in brain ...
Bruns, Gail +4 more
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