Results 151 to 160 of about 102,609 (225)

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2289-2308, October 2026.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Erratum in: IMI Pathologic Myopia

Investigative Opthalmology & Visual Science, 2021
openaire   +2 more sources

Cancer Risk in Marfan Syndrome: A Swedish Population‐Based Cohort Study

International Journal of Cancer, Volume 159, Issue 7, Page 1707-1714, 1 October 2026.
The cancer risk in Marfan syndrome, an autosomal dominant connective tissue disorder, largely remains to be explored. In this population‐based matched cohort study of 1544 Swedish patients, the overall cancer risk in adults with Marfan syndrome showed no significant increase, except for the risk of endocrine tumours with a nearly threefold increase ...
Ida Nordgren, Anna Skarin Nordenvall, Alexandra Wachtmeister, Fulya Taylan, Yunxia Lu, Christina Norrby, Anna Lindstrand, Giedre Grigelioniene, Giorgio Tettamanti   +8 more
wiley   +1 more source

Pathological Myopia [PDF]

, 2020
openaire   +1 more source

Delivery Timing, Out‐Of‐Pocket Maternity Costs, and Postpartum Care Utilization: An Instrumental Variable Analysis Among Commercially Insured Women

Health Services Research, Volume 61, Issue 5, October 2026.
ABSTRACT Objective To examine whether out‐of‐pocket costs during pregnancy and delivery affect use of postpartum care. Study Setting and Design Because health insurance deductibles and limits reset annually, the timing of childbirth within that year quasi‐randomly assigns people to different levels of cost‐sharing during pregnancy+delivery versus ...
Rebecca A. Gourevitch, Jessica L. Cohen, Tara Shakley, Sung Min Park, Mary Beth Landrum, Meredith B. Rosenthal, Mark W. Friedberg, Anna D. Sinaiko   +7 more
wiley   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2099-2105, September 2026.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +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

Myopia onset and role of peripheral refraction

, 2017
Maurilia Rotolo,1,2 Giancarlo Montani,2 Raul Martin1,3 1Optometry Research Group, IOBA Eye Institute, School of Optometry, Universidad de Valladolid, Valladolid, Spain; 2Optics and Optometry, Corso di Ottica e Optometria, Universita del Salento, Lecce ...
Montani G, Rotolo M, Martin R
core  

Low‐Dose Atropine for Myopia Control in Children: A Comprehensive Review With Indian Evidence

Eye &ENT Research, Volume 3, Issue 3, Page 118-124, September 2026.
ABSTRACT Myopia is an increasingly prevalent public health concern in India, particularly among school‐aged children in urban and academically demanding environments. Early‐onset myopia is associated with rapid progression and an increased lifetime risk of vision‐threatening complications such as retinal detachment, myopic maculopathy, glaucoma, and ...
Ragni Kumari
wiley   +1 more source

A Review of Artificial Intelligence in Ophthalmology: Key Aspects, Challenges, and Future Directions

Eye &ENT Research, Volume 3, Issue 3, Page 125-154, September 2026.
ABSTRACT Artificial intelligence (AI) is increasingly reshaping ophthalmology because the specialty depends heavily on structured imaging, quantitative measurements, and repeatable diagnostic workflows. This review provides a clinically grounded and translationally oriented synthesis of AI in ophthalmology, covering methodological foundations ...
Partha Pratim Ray
wiley   +1 more source