Results 91 to 100 of about 182,361 (307)

High‐Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient‐Reported Data

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT WAGR spectrum disorder (WAGRSD) is an ultra‐rare congenital disorder caused by heterozygous deletion of chromosome 11p13. While classically associated with Wilms tumor, Aniridia, Genitourinary anomalies, and a Range of developmental delays, accurate delineation of the deletion is critical for prognosis because the phenotypic spectrum extends ...
Andrew M. George, Bamelak T. Duki, Zoe S. Katz, Aravind Viswanathan, Suzanne P. MacFarland, Evan R. Hathaway, Caitlin Monahan, John Morris, Kelly L. Trout, Shari M. Krantz, Arupa Ganguly, Jennifer M. Kalish   +11 more
wiley   +1 more source

Ocular and Systemic Findings in COL2A1 and COL11A1 Stickler Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Stickler syndrome is most commonly caused by variants in COL2A1 and COL11A1 genes. The purpose of this study was to describe genetic variants and phenotypes in COL2A1 and COL11A1 Stickler syndrome. We performed a retrospective genotype–phenotype evaluation of COL2A1 and COL11A1 Stickler syndrome subjects. Thirty‐two subjects with COL2A1 and 13
Aileen G. MacLachlan, Jessica A. Kraker, Denise J. Morgan, Lisa A. Schimmenti, M. Elizabeth Hartnett, Eileen S. Hwang   +5 more
wiley   +1 more source

Peripapillary Vessel Density Reversal after Trabeculectomy in Glaucoma

Journal of Ophthalmology, 2018
Purpose. To evaluate the microvascular changes at the peripapillary area and optic disc in glaucomatous eyes after IOP lowering by trabeculectomy using OCT angiography. Methods.
Jung Hee In, So Yeon Lee, Seok Ho Cho, Young Jae Hong   +3 more
doaj   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Potential benefits of vitamin A and its derivatives in glaucoma

European Journal of Medical Research
Vitamin A (VA), which plays a vital role in maintaining normal eye functions, has shown potential benefits in glaucoma based on accumulating evidence. The purpose of this review is to comprehensively summarize the possible role of VA and VA derivatives ...
Xinyue Zhang, Honghao Yang, Xiaoyu Zhou, Jiahao Xu, Jiawei Chen, Li Liao, Ping Wu, Xuanchu Duan   +7 more
doaj   +1 more source

Advances in Glaucoma Treatment [PDF]

Glaucoma is an optic neuropathy that is characterized by the death of retinal ganglion cells and leads to the progressive loss of vision. This Reprint presents the new frontiers in "Glaucoma Treatment".

core   +1 more source

Developing the clinical components of a complex intervention for a glaucoma screening trial : a mixed methods study [PDF]

, 2011
Peer ...
Vale, Luke D, Burr, JM, Campbell, MK, Francis, JJ, McCann, Sharon K., Azuara-Blanco, Augusto; id_orcid, Campbell, S. E., Hopkins, D, Greene, A, Hernández, Rodolfo, McCann, SK, Francis, Jillian J., Glaucoma Screening Platform Study, Hopkins, Debra, Campbell, SE, Campbell, Marion K, Francis, Jillian J, Vale, LD, Campbell, Marion K., McCann, Sharon K, Hernández, R, Francis, J., McCann, S. K., Glaucoma screening Platform Study group, Hernandez, R. A., Vale, Luke D., Burr, J. M., Hopkins, D., Campbell, Susan E, Campbell, M. K., Burr, Jennifer M., null null, Greene, Alexandra, Burr, Jennifer M, Campbell, Susan E., Greene, A., Vale, L. D.   +36 more
core   +1 more source

Cost–benefit analysis of screening programme for diabetic retinopathy in Bulgaria

British Journal of Clinical Pharmacology, EarlyView.
Aims Late‐diagnosed diabetic retinopathy (DR) is difficult and expensive to treat. Screening programmes can identify the disease early and reduce the costs of its future treatment. This study aims to analyse the cost–benefit of screening programmes for DR.
Iva Nenkova, Yoana Lilova, Alexander Oscar, Alina Levi, Maria Kamusheva, Guenka Petrova   +5 more
wiley   +1 more source

Comparing structural and vascular parameters between healthy eyes and eyes with primary angle-closure disease

BMC Ophthalmology
Background To compare structural and vascular parameters between healthy control eyes and eyes with primary angle-closure suspect (PACS), Primary angle-closure (PAC), and primary angle-closure glaucoma (PACG). Methods Thirty control, 30 PACS, 31 PAC, and
Reza Zarei, Mahdi Soleymanzadeh, Seyed Mehdi Tabatabaei, Mona Safizadeh, Zakieh Vahedian, Samin Ghasemi, Alireza Beikmarzehei   +6 more
doaj   +1 more source

Identification of major congenital malformations based on healthcare databases in France: A proof‐of‐concept study using the epi‐meres nationwide mother–child register

British Journal of Clinical Pharmacology, EarlyView.
Abstract Aim Besides registries, healthcare databases can provide useful information for assessing the frequency of major congenital malformations (MCMs) and investigating their risk factors, particularly medication exposures. This study aimed to assess the validity of MCMs identification based on French national, comprehensive healthcare databases ...
Tom Duchemin, Lise Marty, Jérôme Drouin, Sara Miranda, Jérémie Botton, Valérie Olié, Alain Weill, Rosemary Dray‐Spira   +7 more
wiley   +1 more source