Results 131 to 140 of about 596,683 (351)

Ophthalmology Annual: Nineteen eighty-six [PDF]

, 1986
D J Spalton
openalex   +1 more source

Syndrome of the Month: An Update on Smith‐Kingsmore Syndrome: Characterization of Developmental Milestones and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith‐Kingsmore syndrome (SKS) is a rare autosomal dominant condition characterized by neurodevelopmental differences, macrocephaly/megalencephaly, describable facial features, sleep–wake abnormalities, hyperphagia, and overgrowth. SKS is caused by pathogenic gain‐of‐function variants in MTOR which lead to hyperactivation of the mTOR pathway ...
Carolyn R. Raski, Carlos E. Prada
wiley   +1 more source

Aspects of Biological Age Assessment and Its Significance in Ophthalmology

Oftalʹmologiâ
This article explores the key aspects of biological age assessment and the potential of studying this parameter in ophthalmology. Biological age, as an indicator of the state of the organism, differs from chronological age and allows for a more accurate ...
Yu. N. Yusef, Yu. A. Guseynov, M. H. Durzhinskaya   +2 more
doaj   +1 more source

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat, Marjolaine Champagne, Mathieu Bergeron, Philippe Dodin, Nadia Roumeliotis   +4 more
wiley   +1 more source

New Comprehensive Clinical Classification of the Dry Eye Syndrome Severity 2024. Part 2. Treatment Algorithm — the Opinion of Ophthalmologists

Oftalʹmologiâ
The first part of the article presented the developed clinical classification of the severity of dry eye syndrome 2024, which takes into account not only objective indicators of the state of tear production and the degree of inflammation of the tissues ...
А. V. Trubilin, V. N. Trubilin, E. G. Poluninа, E. A. Kasparova, D. V. Andzhelova, K. A. Mirzabekova, Yu. V. Evstigneeva, K. V. Chinenova, I. A. Leshenko   +8 more
doaj   +1 more source

Application of amniotic membrane in ophthalmology [PDF]

, 2012
G. Drozhzhina, T. Gaidamaka, E. Vansovich   +2 more
openalex   +1 more source

Association Between Parental Leave and Ophthalmology Resident Physician Performance

, 2022
Dana D. Huh, Jiangxia Wang, Michael J. Fliotsos, Casey J. Beal, Charline S. Boente, C. Ellis Wisely, Lindsay M. De Andrade, Anja Lorch, Saras Ramanathan, Maria A. Reinoso, Ramya Swamy, Evan L. Waxman, Fasika A. Woreta, Divya Srikumaran   +13 more
openalex   +2 more sources

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle, Sara M. Sarasua, Tracy Lowe, Christopher L. Farrell, Luigi Boccuto, Charles Schwartz, Anthony E. Pegg, Angela Peron, Victor Faundes, Mythily Ganapathi, Wendy K. Chung, Alban Ziegler, Floris Hofstede, Clément Prouteau, Katharina Steindl, Colleen Olson, Orrin Devinsky, Teresa L. Mastracci, Robert A. Casero Jr., Tracy Murray Stewart, Susan Gilmour, Teri Koerner, Mary Jo Kutler, Surender Rajasekaran, Julianne Michael, André S. Bachmann, Caleb P. Bupp   +26 more
wiley   +1 more source

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, EarlyView.
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

Ways to improve the assessment of the "quality of life" in ophthalmology patients — world trends and own experience

, 2022
I. G. Ovechkin, N. I. Ovechkin, D. F. Pokrovsky, А. I. Pavlov, Alexander V. Shakula   +4 more
openalex   +2 more sources