Results 51 to 60 of about 435 (138)

Sporadic Retinal Astrocytic Hamartoma Mimicking Retinoblastoma in a Child: A Case Report and Literature Review

Clinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT Retinal astrocytichamartoma (RAH) is a rare benign glial neoplasm most commonly associated with tuberous sclerosis complex (TSC). Sporadic cases, occurring in the absence of systemic phakomatosis, are uncommon and may closely mimic retinoblastoma, particularly when presenting with a calcified intraocular mass, creating a diagnostic challenge ...
Mesfin Wubishet Gurmu, Samuel Negash, Aneso Mohammed, Hailu Alemu, Diriba Fufa Hordofa, Melese Abere, Lensa Million, Esubalew Mezgebu   +7 more
wiley   +1 more source

High‐Content CRISPR Screening: Methods and Applications

MedComm, Volume 7, Issue 9, September 2026.
High‐content CRISPR screening represents a paradigm shift in functional genomics, moving beyond traditional survival‐based readouts to enable multidimensional mapping of genotype–phenotype relationships. This review systematically outlines the methodological evolution of this approach, detailing advances in perturbation modalities, delivery systems ...
Yike Zhang, Yimeng Zhang, Xudong Tang, Xinyu Deng, Yitian Zhou, Yanfeng Wu, Jianhua Luo   +6 more
wiley   +1 more source

Mutation Spectrum and Novel Rare Variants in a Han Chinese Hearing Loss Cohort Using a Tiered Sequencing Strategy

Molecular Genetics &Genomic Medicine, Volume 14, Issue 9, September 2026.
In a Han Chinese hearing‐loss cohort from Southwest China, a tiered strategy combining targeted hotspot screening and whole‐exome sequencing established molecular diagnoses in 25 patients, including one involving a CDH23 truncating variant not previously reported in Han Chinese patients with hearing loss, and identified a candidate SLC12A2 variant ...
Yu Zhang, Shimei Yuan, Yafang Wan, Tian Li, Lanlan Xu, Wei Yang, Changchun Niu   +6 more
wiley   +1 more source

A Case Report: Usher Syndrome and Psychosis Comorbidity [PDF]

Düşünen Adam Psikiyatri ve Nörolojik Bilimler Dergisi, 2004
In literature, Usher Syndrome is indicated as the most frequent cause of combined blindness and deafness in adults and it is stated that these patients face psychiatric disorders quite frequently.
Latif Alpkan, Nezih Eradamlar, Neslihan Ergen, Neşe Üstün, Mustafa Karagöz, A. Umut Dalanay   +5 more
doaj  

Compound Heterozygous PCDH15 Variants Associated With Cone‐Rod Dystrophy in a Chinese Pedigree

Molecular Genetics &Genomic Medicine, Volume 14, Issue 9, September 2026.
This study represents the first report suggesting a genotype–phenotype relationship between PCDH15 genetic variants and isolated retinal manifestations absent auditory impairment or syndromic features, thereby providing preliminary evidence that may broaden the mutational spectrum associated with this gene.
Lei Zhang, Qianfeng Wang, Haiyan Wang, Wei Jia, Bowen Zhang, Ru Wang, Wei Qiang, Shuwei Bai   +7 more
wiley   +1 more source

Usher Syndrome

Abstract Usher syndrome (USH) is a disorder causing hearing and vision loss. This group of genetically heterogeneous disorders manifests as sensorineural hearing loss, retinal degeneration, and in some cases vestibular dysfunction. These disorders are described based on genetic locus, age of onset, and severity of symptoms, and represent
Sudan Puri, Wadih M. Zein, Sehar Riaz, Robert B. Hufnagel, Saima Riazuddin, Zubair M. Ahmed   +5 more
  +5 more sources

Prostate Cancer Development, Progression, and Therapy

MedComm – Oncology, Volume 5, Issue 3, September 2026.
This review provides an integrated overview of prostate cancer development, progression, and therapy, spanning historical milestones, molecular mechanisms, advanced research models, and emerging therapeutic strategies. It highlights recent advances in precision diagnosis, lineage plasticity, therapy resistance, and next‐generation treatments for ...
Xin Jin, Zicheng Xiao, Zexian Ding, Wei Li, Ruijiang Zeng, Yujun Shuai, Weimin Ci, Dan Xia, Xu Zhang, Haojie Huang   +9 more
wiley   +1 more source

Usher syndrome associated with Fuchs’ heterochromic uveitis: a case report

Clinical Ophthalmology, 2011
Ece Turan-Vural, Banu Torun-Acar, Nejla Tükenmez, M Şahin Sevim, Bulent Buttanri, Suphi AcarOphthalmology Clinic, Haydarpasa Numune Education and Research Hospital, Istanbul, TurkeyAbstract: We report a case of Usher syndrome in association with
Turan-Vural E, Torun-Acar B, Tükenmez N, Sevim S, Buttanri B, Acar S   +5 more
doaj  

First National Expanded Genomic Newborn Screening Program in Qatar; A Pilot Study, Doha‐Heidelberg Collaboration

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2374-2380, October 2026.
Reem Alsulaiman, Sarah Okashah, Radja Messai Badji, Fatemeh Abbaszadeh, Yaser Alsarraj, Rehab Ali Abdulrahman, Noora Shahbeck, Thalib Moideen, Reema El Hassan, Fatima Al‐Hamaydeh, Einas Alkuwari, Said Ismail, Hilal Al‐ Rifai, Ghassan Abdoh, Christian P. Schaaf, Georg Hoffmann, Saad Al‐Kaabi, Wadha Al‐Muftah, Tawfeg Ben‐Omran   +18 more
wiley   +1 more source

A Review of the Therapeutic Potential of Stem Cell‐Derived Nanocarriers to Treat Neurological Disorders

ChemistryOpen, Volume 15, Issue 9, September 2026.
Neurological disorders (NDs) are characterized by substantial loss of specific neurons, with Alzheimer's and Parkinson's diseases being the most frequent NDs and nearly 99% of all “foreign substances” are prohibited from entering the brain by the blood‐brain barrier (BBB) and the blood‐cerebrospinal fluid barrier (CFB).
Nnamdi Ikemefuna Okafor, Ahmed Abdelgader, Magdi Abobaker, Yahya E. Choonara   +3 more
wiley   +1 more source