Results 91 to 100 of about 125,088 (254)

Towards Kinase Inhibitor Therapies for Fragile X Syndrome: Tweaking Twists in the Autism Spectrum Kinase Signaling Network [PDF]

, 2022
Claudio Peter D’Incal, Jitse Broos, Thierry Torfs, R. Frank Kooy, Wim Vanden Berghe   +4 more
openalex   +1 more source

Controlled trial of lovastatin combined with an open-label treatment of a parent-implemented language intervention in youth with fragile X syndrome. [PDF]

, 2020
BackgroundThe purpose of this study was to conduct a 20-week controlled trial of lovastatin (10 to 40 mg/day) in youth with fragile X syndrome (FXS) ages 10 to 17 years, combined with an open-label treatment of a parent-implemented language intervention (
Abbeduto, Leonard, Banasik, Amy, Bullard, Lauren, Hagerman, Randi, Kim, Kyoungmi, McDuffie, Andrea, Nguyen, Vivian, Potter, Laura A, Potter, Sarah Nelson, Tassone, Flora, Thurman, Angela John   +10 more
core  

Vitreoretinal complications and surgical outcomes in patients with X‐linked retinoschisis

Acta Ophthalmologica, EarlyView.
Abstract Purpose X‐linked retinoschisis (XLRS) is an inherited vitreoretinal disorder characterized by macular retinoschisis. In a subgroup of patients, peripheral retinoschisis can occur, potentially leading to complications such as vitreous haemorrhage (VH) and retinal detachment (RD).
Jonathan Hensman, Leo C. Hahn, Mary J. van Schooneveld, Roselie M. H. Diederen, Filip van den Broeck, Jacoline B. Ten Brink, Alberta A. Thiadens, Maria M. van Genderen, L. Ingeborgh van den Born, Bart P. Leroy, Carel B. Hoyng, Camiel J. F. Boon   +11 more
wiley   +1 more source

5-HT5A Receptor Antagonist ASP5736 Ameliorates Several Abnormal Behaviors in an Fmr1-Targeted Transgenic Male Rat Model of Fragile X Syndrome [PDF]

, 2022
Mayako Yamazaki, Takatomo Arai, Junko Yarimizu, Mitsuyuki Matsumoto   +3 more
openalex   +1 more source

Bleeding Disorders in Children With Genetic Diseases: A Narrative Review

Acta Paediatrica, EarlyView.
ABSTRACT Aim The lack of data on bleeding risk assessment in children with genetic diseases is concerning given their increased care needs and risk of haemorrhagic complications compared to the general population. Identification of haemostatic disorders is crucial for implementing preventive measures and mitigating bleeding risk.
Raphaelle Cagol, Mariam Sbeity Barakat, Marjolaine Willems, Tasnime Akbaraly, Biron‐Andreani Christine, Isabelle Diaz, Alexandre Theron   +6 more
wiley   +1 more source

A Case of Generalized Chorea Presenting as an Early Feature of Fragile‐X Associated Tremor/Ataxia Syndrome

, 2020
Fariha Islam, Will Lee
openalex   +2 more sources

Transforming life. Fragile X syndrome between molecular diagnosis and biosociality [PDF]

, 2006
This paper addresses issues of molecular diagnosis as a pivotal life reconfiguration factor, defined both as life forms ("naked life") and as forms of life (Wittgenstein).
Pidoux, Vincent
core  

The Recruitment and Retention of Individuals With Intellectual Disability in Randomized Controlled Trials: A Scoping Review

British Journal of Learning Disabilities, EarlyView.
ABSTRACT Background People with intellectual disabilities face significant health disparities and often encounter barriers in accessing healthcare services. Although research supports the need for reasonable adjustments to improve healthcare access for this population, implementation in acute healthcare settings remains limited.
Owen Doody, Louise Murphy, Ruth Ryan, Rosemary Lyons, Wenyi Tang, Lorna Bourke   +5 more
wiley   +1 more source

Motor Influences on Communication: Comparisons Between Down Syndrome and Fragile X Syndrome

, 2021
Elizabeth Will, Jane E. Roberts
openalex   +2 more sources

A Rare Case of Hao-Fountain Syndrome Mimicking Fragile X Syndrome [PDF]

, 2023
Khaled N Itani, Salma Elfaki
openalex   +1 more source