Results 61 to 70 of about 1,796,179 (342)

Case Report With Biallelic Variants in GCNT2 Implicates Exon 1B in Congenital Cataracts

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT GCNT2‐related cataracts is a disorder characterized by bilateral congenital cataracts (CC) of various types (with or without the adult i blood phenotype) and is caused by biallelic variants in GCNT2, which has 3 major isoforms, differentiated by alternative splicing of the first exon (known as exon 1A, B, and C).
Audrey O'Neill, Cindy Bayer, Emily McQuillen, Erica D. Smith, Meghan Towne, Dallas Reed   +5 more
wiley   +1 more source

N-acetylhistidine, a novel osmolyte in the lens of Atlantic salmon (Salmo salar L.) [PDF]

, 2010
Volume homeostasis is essential for the preservation of lens transparency and this is of particular significance to anadromous fish species where migration from freshwater to seawater presents severe osmotic challenges. In Atlantic salmon (Salmo salar L.)
Bjerkas, Ellen, Breck, Olav, Rhodes, Jeremy D., Sanderson, Julie, Waagbo, Rune   +4 more
core   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Results of Cataract Extraction in Patients with Corneal Opacity

Oftalʹmologiâ, 2019
Purpose. To evaluate the effectiveness of cataract extraction in patients with varying degrees of corneal opacity.Patients and methods. We performed cataract extraction with implantation of the intraocular lenses of 14 eyes (9 patients) with varying ...
E. A. Ivachev, E. V. Anisimova, I. P. Denisova   +2 more
doaj   +1 more source

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

Aniridia Associated with Lens Coloboma and Secondary Glaucoma Treated with Transcorneal Argon Laser Ciliary Body Photocoagulation: A Case Report

Case Reports in Ophthalmology, 2013
Purpose: The aim of this study is to describe the management of cataract and refractory glaucoma in a case of congenital aniridia (AN)-1. Methods: In an 18-year-old female patient affected by congenital AN, bilateral coloboma of the zonula and lens ...
Sandro Sbordone, Vito Romano, Alfonso Savastano, Valerio Piccirillo, Maria Cristina Savastano, Mario Bifani   +5 more
doaj   +1 more source

A COMPARATIVE STUDY OF PRE AND POST-OPERATIVE REFRACTIVE ERRORS IN CATARACT SURGERY – PHACO & SICS.

Student's Journal of Health Research Africa, 2023
Background:  The method of phacoemulsification for cataract surgery is preferred by surgeons, but it is not an affordable method. On the other hand, small-incision cataract surgery performed manually is economically affordable.
Dr. Santosh Kumar Singh , Dr. MD. Tabrez Alam   +1 more
doaj   +1 more source

Optic nerve head segmentation [PDF]

, 2004
Reliable and efficient optic disk localization and segmentation are important tasks in automated retinal screening. General-purpose edge detection algorithms often fail to segment the optic disk due to fuzzy boundaries, inconsistent image contrast or ...
Basu, A., Fletcher, E., Hunter, Andrew, Kennedy, L., Lowell, J., Ryder, R., Steel, D.   +6 more
core   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

A Multicenter, Prospective, Randomized, Contralateral Study of Tissue Liquefaction Liposuction vs Suction-Assisted Liposuction [PDF]

, 2018
Tissue liquefaction liposuction (TLL) deploys a novel energy source utilizing a stream of warmed, low-pressurized, and pulsed saline to extract fat tissue.
Andrew, Mark S., Bharti, Gaurav, Crantford, John C., Daniels, Mark A., Godek, Christopher P., Hunstad, Joseph P., Kortesis, Bill G., Van Natta, Bruce W.   +7 more
core   +2 more sources