Results 71 to 80 of about 5,567,486 (203)

Identification of a De Novo MAGEL2 Pathogenic Variant in Schaaf–Yang Syndrome and the Importance of Paternal Allele Confirmation

Journal of Clinical Laboratory Analysis, Volume 40, Issue 3, February 2026.
This study reports a de novo MAGEL2 pathogenic variant in a patient with Schaaf–Yang syndrome, confirmed through methylation‐sensitive analysis. Combining genomic sequencing with methylation assays helps accurately determine the parental origin of MAGEL2 mutations.
Youn‐Ji Hong, Misun Yang, Hyeon Jeong Kwon, Jooyoung Cha, Ja‐Hyun Jang, Sung Eun Wang, Eun Sun Lee, Mi‐Ae Jang   +7 more
wiley   +1 more source

Novel IRF6 mutations in families with Van Der Woude syndrome and popliteal pterygium syndrome from sub-Saharan Africa [PDF]

, 2014
Orofacial clefts (OFC) are complex genetic traits that are often classified as syndromic or nonsyndromic clefts. Currently, there are over 500 types of syndromic clefts in the Online Mendelian Inheritance in Man (OMIM) database, of which Van der Woude ...
Abate, Fikre, Adeyemo, Adebowale A., Adeyemo, Wasiu L., Aregbesola, Babatunde S., Braimah, Ramat O., Butali, Azeez, Deribew, Milliard, Emeka, Christian I., Eshete, Mekonen A., Even, Dee, Gaines, LauRen A., Gesses, Mulualem, Gravem, Paul E., Hailu, Taye, James, Olutayo, Ladeinde, Akinola L., Mohammed, Ibrahim, Mossey, Peter A., Murray, Jeffrey C., Ogunlewe, Mobolanle O., Rigdon, Jennifer V.   +20 more
core   +3 more sources

Progression and topographic subtypes of Terrien marginal degeneration

Acta Ophthalmologica, Volume 104, Issue 1, Page 33-43, February 2026.
Abstract Purpose To report long‐term outcomes and to search for immunological and genetic risk factors in Terrien marginal degeneration (TMD). Methods Retrospective, in part prospective, hospital‐based longitudinal follow‐up study of 32 eyes of 16 Finnish patients from 2012 to 2023. Median follow‐up was 7.3 years (range, 0.3–15.2).
Minna Ruutila, Pauliina Repo, Annamari T. Immonen, Joni A. Turunen, Marja‐Liisa Lokki, A. Inkeri Lokki, Jukka Moilanen, Kari Krootila, Tero T. Kivelä   +8 more
wiley   +1 more source

Results of Limbal Conjunctival Autograft Transplantation in Primary and Recurrent Pterygium Surgery

Türk Oftalmoloji Dergisi, 2014
Objectives: To evaluate the results of limbal conjunctival autograft transplantation in cases with primary and recurrent pterygium. Materials and Methods: A total of 54 eyes of 49 patients who were operated for pterygium with limbal conjunctival ...
Raşit Kılıç, Tülay Karacan Erşekerci, Gökay Göktolga, Sebile Üstün Çomçalı, Alperen Ağadayı   +4 more
doaj   +1 more source

A case-control study of ocular surface squamous neoplasia (OSSN) in Uganda [PDF]

, 2010
HIV increases the risk of OSSN. Here we investigate other factors in a case-control study from Uganda with 318 cases (48 CIN I, 66 CIN II, 81 CIN III and 123 with invasive disease) and 762 controls. Initial analyses were stratified by HIV serostatus (204
Ateenyi-Agaba, Clear, de Koning, Feng, IARC, Lee, Margo, McKelvie, Newton, Newton, Panchapakesan, Sun, Tang, Templeton, Tulvatana, Vajdic, Waddell   +16 more
core   +1 more source

Driving Innovation: The Impact of National Health Policies on Optometry Research in East Asia

The International Journal of Health Planning and Management, Volume 41, Issue 1, Page 37-46, January 2026.
ABSTRACT This study examines the optometric research landscape in three East Asian countries—China, Japan, and Korea—analysing how research trends align with each country's national health strategies. By evaluating published articles and reviews from national journals between 2006 March 2025, we identify key areas of focus, including paediatric ...
Jihye Ahn, Moonsung Choi
wiley   +1 more source

Clinical outcomes of pterygium surgery over a ten-year period: a review of recurrence and complication rates

BMC Ophthalmology
Purpose This study described the clinical profile and post-operative outcomes of patients who underwent pterygium surgery at an ambulatory eye center in the Philippines over a ten-year period.
Sharlene I. Noguera, Katherine S. Aniana Nicanor, Robert Edward T. Ang, Emerson M. Cruz   +3 more
doaj   +1 more source

Evaluation of the Effectiveness of Excision Techniques from Cornea to Limbus and from Limbus to Cornea on Recurrence in Pterygium Surgery

Türk Oftalmoloji Dergisi, 2014
Objectives: To evaluate the recurrence rates of two different pterygium excision procedures, i.e. “excision from the cornea to the limbus” and “excision from the limbus to the cornea”.
Tuba Çelik
doaj   +1 more source

Non Communicable Diseases and Infections Refuse to go away Despite Current Knowledge and Scientific Advances. [PDF]

, 2014
No abstract ...
Tumwine, James K
core   +2 more sources

Vat photopolymerization‐based bioprinting: Shaping next‐generation tissues with light

Interdisciplinary Medicine, Volume 4, Issue 1, January 2026.
Vat photopolymerization‐based bioprinting is revolutionizing biofabrication by enabling high‐precision construction of biological structures. This review systematically examines photopolymerization mechanisms and variants in printing techniques, discusses design principles and composition of bio‐inks, and highlights recent progress toward next ...
Wei Long Ng, Carlos T. B. Paula, Arménio C. Serra, Jorge F. J. Coelho, Paulo Bartolo   +4 more
wiley   +1 more source