Results 161 to 170 of about 214,123 (285)

High‐Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient‐Reported Data

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 1989-1999, September 2026.
ABSTRACT WAGR spectrum disorder (WAGRSD) is an ultra‐rare congenital disorder caused by heterozygous deletion of chromosome 11p13. While classically associated with Wilms tumor, Aniridia, Genitourinary anomalies, and a Range of developmental delays, accurate delineation of the deletion is critical for prognosis because the phenotypic spectrum extends ...
Andrew M. George, Bamelak T. Duki, Zoe S. Katz, Aravind Viswanathan, Suzanne P. MacFarland, Evan R. Hathaway, Caitlin Monahan, John Morris, Kelly L. Trout, Shari M. Krantz, Arupa Ganguly, Jennifer M. Kalish   +11 more
wiley   +1 more source

Facial Dysmorphism and Severe Vascular Phenotype in TRNT1 Deficiency with Concomitant Antithrombin III Deficiency. [PDF]

J Clin Immunol
Matea DM, Arghirescu ST, Chirita-Emandi A, Urtila P, Bataneant M.   +4 more
europepmc   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2067-2079, September 2026.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

From Confusion to Clarity: A Multi‐Stage Process Framework for Understanding Consumer Confusion

Journal of Consumer Behaviour, Volume 25, Issue 5, Page 2720-2746, September 2026.
ABSTRACT This paper reconceptualizes consumer confusion as a multi‐stage temporal process rather than a static outcome, addressing theoretical fragmentation in existing antecedent‐consequence models. By integrating cognitive appraisal, contextual amplification, and adaptive coping within a unified framework, we explain how confusion unfolds rather than
Fatih Celik, Erdogan Koc
wiley   +1 more source

A Forensic Medical Evaluation of Cases Developing Permanent Sequelae Following Traffic Accident-Related Ocular Injuries. [PDF]

Diagnostics (Basel)
Turan Ö, Altin İ, Esen F.
europepmc   +1 more source

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

Comparison of the Effect of Pyridostigmine and Sugammadex on Emergence Delirium in Pediatric Patients Undergoing Strabismus Surgery: A Randomized Controlled Trial. [PDF]

J Clin Med
Oh CS, Shin HJ, Park SJ, Lee YJ.
europepmc   +1 more source

Suprasellar Desmoplastic Infantile Ganglioglioma in a 7‐Month‐Old Infant: A Rare Diagnostic Consideration in Infant Suprasellar Masses

Clinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT Desmoplastic infantile ganglioglioma should be considered when an infant presents with a suprasellar mass, nystagmus, and developmental delay. Deep midline location limits resection, so BRAF V600E testing matters: it can open a targeted treatment option when surgery cannot control the disease.
Tawfiq Zuhair Abdullah Allaylah
wiley   +1 more source

Two Cases of Adult-Onset Esotropia With a History of Medial Rectus Muscle Recession Treated With Botulinum Toxin Type A. [PDF]

Cureus
Iimori H, Okujima N, Shiraishi A.
europepmc   +1 more source

Comparison of Cox Proportional Hazards Regression and Multiple Logistic Regression Models for Identifying Factors Associated With Mortality Among Children With Retinoblastoma in Malaysia: A Retrospective Cohort Study

Health Science Reports, Volume 9, Issue 9, September 2026.
ABSTRACT Background and Aims Retinoblastoma is the most common intraocular rare disease in children arising in the retinal cells. This study aimed to evaluate the consistency of the findings of factors associated with mortality in retinoblastoma children between the Cox Proportional Hazards Regression Model (Cox PHR) and the Multiple Logistic ...
Zulkifli Nor‐Aizura, Nadiah Wan‐Arfah, Nyi Nyi Naing, Syaratul Emma Hashim, Ismail Shatriah, Ahmad Sukari Ain‐Nasyrah, Norhafizah Hamzah, Jamalia Rahmat, Mohamad Aziz Salowi   +8 more
wiley   +1 more source