Results 41 to 50 of about 1,678 (170)

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1098-1104, May 2026.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

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

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 661-672, March 2026.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Evaluation of Endoscopic Dacryocystorhinostomy Success Rate in Patients with Nasolacrimal Duct Obstruction (2015-18)

مجله دانشگاه علوم پزشکی گرگان, 2022
Background and Objective: Any factor that disrupts the tear duct can cause epiphora, one of the most prevalent causes for patients to go to ophthalmology clinics. Nasolacrimal duct obstruction can be congenital or acquired.
Masoumeh Eslami, Fatemeh Abdi, Marjan Akbari-Kamrani, Arzhang Gordiz, Fatemeh Najafi   +4 more
doaj  

Bilateral congenital lacrimal fistulas in an adult as part of ectrodactyly-ectodermal dysplasia-clefting syndrome: A rare anomaly

Indian Journal of Ophthalmology, 2015
Ectrodactyly-ectodermal dysplasia and clefting syndrome or "Lobster claw" deformity is a rare congenital anomaly that affects tissues of ectodermal and mesodermal origin.
Debangshu Ghosh, Somnath Saha, Sumit Kumar Basu   +2 more
doaj   +1 more source

A rare cause of nasolacrimal duct obstruction: Dentigerous cyst in the maxillary sinus

Indian Journal of Ophthalmology, 2009
The most common abnormality of the lacrimal drainage system is congenital or acquired nasolacrimal duct obstruction. The causes of acquired nasolacrimal duct obstruction may be primary or secondary.
Ray Biswarup, Bandyopadhyay Saumendra, Das Debabrata, Adhikary Bivas   +3 more
doaj  

Pyriform Plasty as an Adjunct to Septoplasty: A Double‐Blind Randomized Trial in Patients With Septal Deviation

Laryngoscope Investigative Otolaryngology, Volume 10, Issue 6, December 2025.
ABSTRACT Introduction The study was designed to compare the final long‐term outcomes of septoplasty with and without unilateral pyriform plasty on the concave side in patients with septal deviation. Materials and Methods A randomized clinical trial was conducted from 2020 to 2023. Patients were randomly divided into two groups of 30.
Matin Ghazizadeh, Behrouz Barati, Mohammad Moini, Homeira Mansurzadeh   +3 more
wiley   +1 more source

Microbiology and Antibiotic Susceptibility Pattern in Congenital Nasolacrimal Duct Obstruction

Delhi Journal of Ophthalmology
Purpose: To analyze the microbiological spectrum and antibiotic sensitivity in children with congenital nasolacrimal duct obstruction (CNLDO) and determine the empirical drug of choice.
Maneksha Velu, K. S. Aparna
doaj   +1 more source

Antimicrobial prescribing guidelines for horses in Australia

Australian Veterinary Journal, Volume 103, Issue 12, Page 781-889, December 2025.
The growing problem of antimicrobial resistance also affects equine veterinarians with increasing frequency. Antimicrobial stewardship and responsible prescribing are essential for a future in which effective antimicrobials are available, as it is unlikely that new antimicrobials will become available for use in horses.
L Hardefeldt, K Thomas, S Page, J Norris, G Browning, C El Hage, A Stewart, J Gilkerson, G Muscatello, D Verwilghen, G van Galen, J Bauquier, R Cuming, B Reynolds, C Whittaker, E Wilkes, J Clulow, C Burden, L Begg   +18 more
wiley   +1 more source

A Novel Synonymous Variant of PAX2 in Monochorionic Diamniotic Twins With Bilateral Renal Agenesis: A Case Report and Literature Review

Molecular Genetics &Genomic Medicine, Volume 13, Issue 6, June 2025.
A novel synonymous variant of PAX2 in monochorionic diamniotic twins with bilateral renal dysplasia was demonstrated to be associated with PAX2‐disorders through the integration of clinical findings and minigene assay results. ABSTRACT Background Paired Box 2 (PAX2, NM_000278.5) encodes paired box gene 2, one of many human homologs of the Drosophila ...
Wencong Yao, Bocheng Xu, Hao Wang, Shanling Liu, He Wang, Jingqun Mai, Xihan Wang, Xin Chen, Zhu Zhang   +8 more
wiley   +1 more source