Results 201 to 210 of about 21,487 (301)

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 642-652, March 2026.
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää, Chad R. Haldeman‐Englert, Marja Hietala, Melisa S. Tanverdi, Patrick P. Koty, Diana Brightman, Eniolami Dosunmu, Shailja Tibrewal, Savleen Kaur, Anupriya Kaur, Raj Kumar Verma, Alejandra G. de Alba Campomanes, Virginia Utz, Anne M. Slavotinek, Cynthia Curry   +14 more
wiley   +1 more source

Validation of Monocular Pupillometry in Healthy Controls and Patients With Autonomic Dysfunction: Pupillary Biomarkers for Autonomic Failure. [PDF]

Eur J Neurol
Sander L, Oommen G, Brophy C, Bohus-Roper S, Chiaro G, Bremner F, Iodice V.   +6 more
europepmc   +1 more source

The Differential Diagnosis of Coma in the ICU: Hyperacute Postoperative Guillain‐Barré Syndrome—A Case Report

Clinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT Guillain‐Barré syndrome (GBS) is a rare, immune‐mediated neurological disorder that can be challenging to diagnose in postoperative patients due to atypical manifestations and overlapping conditions. This case report highlights the diagnostic and therapeutic challenges of GBS following vascular surgery. We present the case of a 56‐year‐old man
Miron Tiganas, Abdulrahman Ismaiel, Dan Sebastian Dirzu, Iris Aszalos   +3 more
wiley   +1 more source

Neurosyphilis Diagnosed on the Basis of Pupillary Abnormalities: A Case Report. [PDF]

Cureus
Hayashi S, Watanabe A, Iida K, Kuwano K, Nakano T.   +4 more
europepmc   +1 more source

Hereditary Thrombotic Thrombocytopenic Purpura Associated With Recurrent Strokes and Prominent Nervous System Involvement in a Young Chinese Female

Clinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT Hereditary thrombotic thrombocytopenic purpura (TTP) is a rare autosomal recessive inherited disease caused by an ADAMTS1 gene mutation, resulting in absence or severe deficiency of plasma ADAMTS13 activity. The common causes include infection, inflammation, or pregnancy.
Wanying Liu, Jiaying Wu, Xi Ming, Qi Zhang, Delian Zhou, Rubing Zheng, Mi Zhou, Zhen Shang, Liting Chen, Xiaojian Zhu, Yi Xiao   +10 more
wiley   +1 more source

The effectiveness of a pupillary dilation reflex as an analgesia indicator: A protocol for a randomised multicentre trial in critically ill patients. [PDF]

Int J Nurs Stud Adv
López de Audícana Jimenez de Aberasturi Y, Vallejo De la Cueva A, Parraza Diez N.   +2 more
europepmc   +1 more source

Early-onset progressive retinal atrophy associated with an IQCB1 variant in African black-footed cats (Felis nigripes) [PDF]

, 2017
et al,, Montague, Michael J
core   +1 more source

Behavioral Phenotype and Neuropsychological Profile of an Adult With Smith‐Magenis Syndrome due to a Previously Unreported RAI1 Mutation: A Case Report

Clinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT Smith‐Magenis Syndrome (SMS) is an uncommon genetic disorder caused by microdeletions of chromosome 17p11.2 including the RAI1 gene, or loss‐of‐function mutations that directly affect RAI1. Due to the involvement of RAI1 in neurodevelopment, SMS leads to typical pathologic features in the behavioral and physical phenotype that must be ...
Edgar Andrés Chavarría‐Martínez, Julen Arellano‐Sandúa, Ruth Arias‐Hidalgo, Ana Patiño‐García, Adrián Cano‐Prous   +4 more
wiley   +1 more source

Ocular multimodal imaging of a patient with malignant atrophic papulosis (Degos disease). [PDF]

Am J Ophthalmol Case Rep
Barbé A, El Maamar Y, Farhat MM, Launay D, Hachulla É, Ledoult E.   +5 more
europepmc   +1 more source

Peters Anomaly in a Miniature Schnauzer Documented by Spectral‐Domain Optical Coherence Tomography: A Case Report

Clinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT A 10‐month‐old intact male Miniature Schnauzer was presented for evaluation of a unilateral corneal opacity in the right eye. Ophthalmic examination revealed a broad paraxial corneal opacity involving the posterior stroma to the Descemet's membrane, with multiple strands of tissue extending from the iris collarette to the posterior cornea ...
Yukihiro Miwa, Deokho Lee, Yuri Inukai
wiley   +1 more source