Results 41 to 50 of about 163,801 (186)

Definición de Subtipos del Síndrome de Usher en Población Colombiana

Medicina, 2010
<h3>Resumen</h3><p><strong>Introducción.</strong> El Síndrome de Usher (USH), de herencia autosómica recesiva, se caracteriza por sordera congénita sensorial, Retinitis Pigmentosa y disfunción vestibular.
Greizy López Leal, Nancy Gelvez Moyano, Marta L. Tamayo   +2 more
doaj  

A SWOT Analysis of Three Programmes for Persons With Intellectual Disabilities in Higher Education Settings in Chile, Ireland and Australia

British Journal of Learning Disabilities, EarlyView.
ABSTRACT Background Educational access is key in empowering persons living with intellectual disabilities. Nevertheless, internationally, Persons with Intellectual Disabilities continue to experience marginalization and discrimination in accessing higher education.
Denise De Souza, Zelinna Pablo, Debashis Sarker, Maria Theresa von Fürstenberg, Alejandra Rios Urzua, Des Aston, Jennifer Banks, Donatella Camedda, Michael Shevlin   +8 more
wiley   +1 more source

Estudo clínico e padrão de herança em pacientes com retinose pigmentar Clinical study and pattern of inheritance in patients with retinitis pigmentosa

Revista Brasileira de Oftalmologia, 2013
OBJETIVO: Realizar análise epidemiológica de pacientes com retinose pigmentar (RP), caracterizando aspectos clínicos da doença e o padrão de herança encontrado em nosso meio, de acordo com a presença ou não de síndrome de Usher.
Ana Cristina Cotta de Queiroz, Maria Frasson, Carlos Eduardo dos Reis Veloso, Rodrigo Rezende Arantes, Márcio Bittar Nehemy   +4 more
doaj  

Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas–Mexico Border

Clinical Genetics, EarlyView.
Project GIVE provided evaluations and genome sequencing to 23 children with hearing loss along the Texas–Mexico border. Seventy percent received a molecular diagnosis and 56% of those diagnosed had changes to medical management. In this region, underdiagnosis of genetic hearing loss is due to care barriers rather than lower genetic burden.
Desiree Lanehart, Michelle Gray, Roberta Sierra, Camille Maldonado, Daniel Brooks, Hongzheng Dai, Aaly Rahimtoola, Sandy Magallan, Sarah Rodriguez, Jose Gamez, Pattie Rosenlund, Surya N. Mulukutla, Alberto Allegre, Lori Berry, Brendan Lee, Daryl A. Scott, Blake Vuocolo, Seema R. Lalani   +17 more
wiley   +1 more source

Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/DFNB‐Related Genes: An Impossible Challenge?

Clinical Genetics, EarlyView.
As our results show that very few published variants could currently be considered causative of DFNB due to lack of precise clinical studies, strict and uniform criteria should be applied by authors publishing on USH/DFNB genes.
Ralyath Balogoun, Margaux Serey‐Gaut, Laurence Jonard, Sandrine Marlin   +3 more
wiley   +1 more source

Algunos aspectos epidemiológicos de la baja visión en pacientes con retinosis pigmentaria en Santiago de Cuba Some epidemiological aspects of low vision in patients with retinitis pigmentosa in Santiago de Cuba

Medisan, 2011
Se realizó un estudio descriptivo, longitudinal y retrospectivo para determinar algunos aspectos epidemiológicos de la baja visión por retinosis pigmentaria en 239 pacientes atendidos por esa causa en el Centro Provincial de Retinosis Pigmentaria de ...
Idalmis García Mayet, Rásife Freyre Luque, Sarah María García Espinosa, Eudosia Roncourt Colás, Yanet Grenot Mustelier   +4 more
doaj  

Dermatologic Toxicities Associated With Novel Pan‐RAS/RAF Inhibitors

Journal of Cutaneous Pathology, EarlyView.
ABSTRACT Background The mitogen‐activated protein kinase (MAPK) pathway plays a key role in cell‐cycle regulation and tumor progression in cancer. Dermatologic toxicities (DTs) to newer pan‐RAS (RMC‐6236) and pan‐RAF (LXH254/naporafenib) inhibitors are emerging.
Lin J. He, Shaymaa Hegazy, Phyu P. Aung, Priyadharsini Nagarajan, Fiorinda Muhaj, Adrienne N. Choksi, Ana M. Ciurea, Kelly C. Nelson, Doina Ivan, Carlos A. Torres‐ Cabala, Victor G. Prieto, Jonathan L. Curry   +11 more
wiley   +1 more source

Perceived Vertical and Lateropulsion: Clinical Syndromes, Localization, and Prognosis [PDF]

, 2000
We present a clinical classification of central vestibular syndromes according to the three major planes of action of the vestibulo-ocular reflex: yaw, roll, and pitch.
Dieterich, Marianne, Brandt, Thomas
core   +1 more source

Telegram from Usher Burdick to Governor Langer, 1933 [PDF]

, 1933
Usher Burdick, President of the Farmers\u27 Holiday Association, sent this telegram to Governor William Langer in October 1933 regarding the loss of a farm owned by Mary Patterson of Westhope, North Dakota.
Burdick, Usher L
core   +1 more source

The Oral‐Gut Axis: Bidirectional Interactions Between Microbiome and Diseases

Journal of Periodontal Research, EarlyView.
This study aims to summarize the mechanisms underlying ectopic colonization of the gut by oral pathobionts and the microbial and host factors that regulate this process. ABSTRACT Increased colonization of typically oral microorganisms is frequently observed in the gut mucosa or lumen of individuals with gastrointestinal disorders, including patients ...
Shinya Ebihara, Nobuhiko Kamada
wiley   +1 more source