Results 111 to 120 of about 225,713 (333)

Negative effect of treatment with mGluR5 negative allosteric modulator AFQ056 on blood biomarkers in young individuals with Fragile X syndrome

SAGE Open Medicine
Background: Fragile X syndrome, with an approximate incidence rate of 1 in 4000 males to 1 in 8000 females, is the most prevalent genetic cause of heritable intellectual disability and the most common monogenic cause of autism spectrum disorder. The full
Dragana Protic, Elizabeth Breeze, Guadalupe Mendoza, Marwa Zafarullah, Leonard Abbeduto, Randi Hagerman, Christopher Coffey, Merit Cudkowicz, Blythe Durbin-Johnson, Paul Ashwood, Elizabeth Berry-Kravis, Craig A Erickson, Robin Filipink, Andrea Gropman, Lenora Lehwald, Angela Maxwell-Horn, Stephanie Morris, Amanda Palladino Bennett, Lisa Prock, Amy Talboy, Nicole Tartaglia, Jeremy Veenstra-VanderWeele, Flora Tassone   +22 more
doaj   +1 more source

Dilemmas in counselling females with the fragile X syndrome [PDF]

, 1999
The dilemmas in counselling a mildly retarded female with the fragile X syndrome and her retarded partner are presented. The fragile X syndrome is an X linked mental retardation disorder that affects males and, often less ...
Boer-van den Berg, H.M. van den, Niermeijer, M.F. (Martinus), Tibben, A. (Arend), Vries, B.B.A. (Bert) de   +3 more
core  

Plasma Biomarkers for Monitoring Brain Pathophysiology in FMR1 Premutation Carriers. [PDF]

, 2016
Premutation carriers have a 55-200 CGG expansion in the fragile X mental retardation 1 (FMR1) gene. Currently, 1.5 million individuals are affected in the United States, and carriers are at risk of developing the late-onset neurodegenerative disorder ...
Giulivi, Cecilia, Hagerman, Randi, Halmai, Julian, Napoli, Eleonora, Tassone, Flora   +4 more
core   +2 more sources

Dietary and biomarker‐guided strategies as supportive measures in the fragile X syndrome

Food Biomacromolecules, EarlyView.
Abstract The fragile X syndrome (FXS) is an inherited neurodevelopmental disorder that primarily affects males, often resulting in an IQ below 55, while about two‐thirds of females also experience intellectual disability. Physical features may include an elongated face, prominent ears, finger joint laxity, and enlarged testes in males.
Jailan E. El Halawani, Reem R. AlOlaby
wiley   +1 more source

Arbaclofen in fragile X syndrome: results of phase 3 trials

Journal of Neurodevelopmental Disorders, 2017
BackgroundArbaclofen improved multiple abnormal phenotypes in animal models of fragile X syndrome (FXS) and showed promising results in a phase 2 clinical study.
E. Berry-Kravis, R. Hagerman, J. Visootsak, D. Budimirovic, W. Kaufmann, Maryann Cherubini, P. Zarevics, K. Walton-Bowen, Paul P. Wang, M. Bear, Randall L. Carpenter   +10 more
semanticscholar   +1 more source

Vascular Calcification: Mechanisms, Models, and Therapies

iNew Medicine, EarlyView.
ABSTRACT Vascular calcification represents an active multifactorial process that mirrors several key features of skeletal bone mineralization. Clinically, it is characterized by diminished arterial compliance and increased arterial wall stiffness, both of which serve as independent predictors of significant adverse cardiovascular events.
Wenya Zhu, Shu Yang, Ziyi Chen, Xiaoxiao Yang, Zhen Liang, Yuanli Chen   +5 more
wiley   +1 more source

FRA2A is a CGG repeat expansion associated with silencing of AFF3 [PDF]

, 2014
Folate-sensitive fragile sites (FSFS) are a rare cytogenetically visible subset of dynamic mutations. Of the eight molecularly characterized FSFS, four are associated with intellectual disability (ID).
A Ruiz-Herrera, A Ruiz-Herrera, A Tukun, AJMH Verkerk, AR La Spada, B Winnepenninckx, C Jones, C Ma, C McMurray, CE Pearson, CE Pearson, Chandra Sekhar Reddy Chilamakuri, Christopher E. Pearson, D Kumari, David I. Wilson, David R. FitzPatrick, DD Licatalosi, DD Rudnicki, DS Murthy, E de Graaff, E Steichen-Gersdorf, Edwin Reyniers, Eric Haan, Evelyn Douglas, G Annerén, Geert Vandeweyer, Geoffrey Thompson, Harris Morrison, Hemant Bengani, J Benítez, J Gécz, J Rainger, J Tost, Jacqueline Rainger, JE Parrish, JK Nancarrow, Jozef Gecz, K Debacker, K Debacker, K Gronskov, K Mondal, KE Davies, L Chakrabarti, Liesbeth Rooms, M Kato, M Melko, M Pieretti, M Pieretti, M Wojciechowska, MA Costa Lima, MA Lancaster, Martin S. Taylor, MM Axford, O Britanova, R Illingworth, R Kodzius, R O'Rahilly, R Willemsen, R. Frank Kooy, RI Richards, RI Richards, SJL Knight, SL Nolin, Sofie Metsu, SS Chong, T Sarafidou, T Taki, T Zu, X Liao, Y Gu, Y Trottier, YaW Lin   +71 more
core   +4 more sources

Fragile X syndrome: a review of clinical and molecular diagnoses

Italian Journal of Pediatrics, 2017
BackgroundFragile X Syndrome (FXS) is the second cause of intellectual disability after Down syndrome and the most prevalent cause of intellectual disability in males, affecting 1:5000–7000 men and 1:4000–6000 women.
C. Ciaccio, L. Fontana, D. Milani, S. Tabano, M. Miozzo, S. Esposito   +5 more
semanticscholar   +1 more source

Tactile hypo‐responsivity in autism: Examining potential for diagnostic relevance

JCPP Advances, EarlyView.
The study reported in this paper examined the utility of a brief tactile reactivity assessment in differentiating autistic children from those with other neurodevelopmental concerns and the association between tactile responsivity, autism symptomatology, developmental level, and adaptive skills.
Girija Kadlaskar, Rebecca McNally Keehn, Riley Rozniarek, Nina Pan Fujii, Brandon Keehn   +4 more
wiley   +1 more source

Stress and self-concept in parents of children with fragile X-syndrome / Estresse e autoconceito em pais e mães de crianças com a síndrome do X-frágil

Psicologia: Reflexão e Crítica, 2008
The Fragile X Syndrome is the major inherited intellectual disability, superseded only by Down Syndrome, and it is transmitted mostly by females. Patients with Fragile X Syndrome show a set of physical, clinical, behavioral and cognitive features that ...
Zuleika Ana Cherubini, Cleonice Alves Bosa, Denise Ruschel Bandeira   +2 more
doaj