Results 81 to 90 of about 75,672 (332)

Compound Heterozygosity in PGAP3 Causing Mabry Syndrome in a South African Patient

American Journal of Medical Genetics Part A, EarlyView.
Carli Loubser, Shahida Moosa
wiley   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Visual pathway function and structure in Wolfram syndrome: Patient age, variation and progression [PDF]

, 2018
Background/aimsTo report alterations in visual acuity and visual pathway structure over an interval of 1–3 years in a cohort of children, adolescents and young adults who have Wolfram syndrome (WFS) and to describe the range of disease severity evident ...
Al-Lozi, Amal, Hershey, Tamara, Hoekel, James, Lugar, Heather, Narayanan, Anagha, Rutlin, Jerrel, Tychsen, Lawrence   +6 more
core   +2 more sources

Diagnostic Value of Exome Sequencing in Isolated Polyhydramnios

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield of exome sequencing (ES) in isolated polyhydramnios. Methods This retrospective study included 40 cases of isolated polyhydramnios. All patients underwent screening for gestational diabetes mellitus (GDM) and chromosomal microarray analysis (CMA).
Vered Offen Glassner, Adi Botvinik, Adi Mory, Adi Reches, Karina Krajden Haratz, Britannia Morgan Fleming, Hagit Baris Feldman, Lena Sagi‐Dain, Mordechai Shohat, Rayna Joy Goldstein, Yuval Yaron, Michal Levy   +11 more
wiley   +1 more source

The consequences of strabismus and the benefits of adult strabismus surgery [PDF]

, 2016
Strabismus has a negative impact on patients’ lives regardless of their age. Factors such as self-esteem, relationships with others, education and the ability to find employment may all be negatively affected by strabismus.
Astle, Andrew T., Foulsham, Thomas, McGraw, Paul V.   +2 more
core  

Anesthesia in the surgery of strabismus: role of anesthetic agents in the ocular deviation and surgical outcome [PDF]

, 2015
Purpose: To determine whether the changes in the ocular alignment following general anesthesia, maintained with two different inhalational anesthetic agents, sevoflurane and desflurane, can be used as a predictor for surgical outcomes in children with ...
Arrico, Loredana, Cannata, Riccardo, Collini, Saul, Malagola, Romualdo, Migliorini, Raffaele, Servidio, Annalisa   +5 more
core   +1 more source

Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective We aimed to characterize the fetal features across gestation and describe genotype‐phenotype correlations for pregnancies with fetal RASopathies that were more severely affected as they presented with at least one abnormal fluid collection.
Natalie B. Gulrajani, John Boscardin, Billie R. Lianoglou, Katie Tick, Carmen M. A. Santoli, Kristen A. Miller, Angie C. Jelin, Lorraine Dugoff, Rose Giardine, Cori Feist, Rachel Pilliod, Stephanie Dukhovny, Kelly Gilmore, Neeta L. Vora, Aisling Murphy, Peter N. Robinson, Mary E. Norton, Teresa N. Sparks   +17 more
wiley   +1 more source

Management of stretched scar– induced secondary strabismus [PDF]

, 2020
Mohamed F. Farid, Mohamed R. Mahmoud, Mohamed Awwad   +2 more
openalex   +1 more source

Stepped strabismus surgery

Journal of American Association for Pediatric Ophthalmology and Strabismus, 2019
To present stepped strabismus surgery as a novel technique in cases of small to moderate angle strabismus.Retrospective chart review of cases of stepped strabismus surgery from 2010 untill 2018. In stepped surgery, the first muscle is operated on under rapid induction-recovery IV propofol infusion. Patient is assessed in the OR.
Amr Elkamshoushy, Ahmed Kassem
openaire   +5 more sources

CRPPA exon 6–9 deletion as a founder mutation in Chinese patients with dystroglycanopathy

Pediatric Investigation, EarlyView.
Analysis of sixteen Chinese dystroglycanopathy patients reveals a founder mutation (CRPPA exon 6–9 deletion) in 25% of cases and expands the phenotypic spectrum from severe muscle‐eye‐brain disease to limb‐girdle muscular dystrophy. ABSTRACT Importance Dystroglycanopathies (DGPs) are a group of muscular dystrophies with abnormal glycosylation of ...
Jihang Luo, Yidan Liu, Danyu Song, Shiqi Yang, Xiaona Fu, Lin Ge, Cuijie Wei, Liya Cui, Yanbin Fan, Huaxia Luo, Yanwei He, Jin Xu, Qiang Shen, Yuxuan Guo, Motoi Kanagawa, Tatsushi Toda, Jingmin Wang, Hong Zhang, Hui Xiong   +18 more
wiley   +1 more source