Results 61 to 70 of about 90,115 (261)

O21: Medical problems in fragile X syndrome: FORWARD results from over 1400 participants age 0-21 with an FMR-1 full mutation*

open access: yesGenetics in Medicine Open, 2023
Nicole Tartaglia   +2 more
doaj   +1 more source

Fragile X Females and Psychiatric Disorders

open access: yesPediatric Neurology Briefs, 1993
Psychiatric and developmental difficulties in 17 young females with the fragile X mutation were compared with a non-fragile X female group in a controlled study reported from the Department of Psychiatry, Division of Child and Adolescent Psychiatry, The ...
J Gordon Millichap
doaj   +1 more source

Respiratory Organ‐on‐a‐Chip for Disease Modeling: From Architecture to Functional Integration

open access: yesAdvanced Healthcare Materials, EarlyView.
Respiratory organ‐on‐a‐chip (ROC) models capture key mechanical and cellular cues of the human respiratory system, enabling quantitative dissection of disease mechanisms. This review links ROC architectures to disease modeling, functional integration, and commercialization, and proposes a decision framework that aligns model complexity with mechanistic
Jinzhuo Hu   +4 more
wiley   +1 more source

In Situ Amine Formation to Modulate MOF‐Derived PdIn N‐Doped Carbon Catalysts

open access: yesAdvanced Materials, EarlyView.
An amine‐assisted approach converts PdIn‐MOF into PdIn intermetallic nanoparticles embedded in N‐doped carbon. In situ‐generated amines trigger early Pd nucleation, producing smaller PdIn domains than direct pyrolysis. Amine sterics and basicity tune composition and particle size, while solvent and amine co‐determine textural features.
Gonzalo Egea   +9 more
wiley   +1 more source

Early Diagnosis of Fragile X Syndrome

open access: yesPediatric Neurology Briefs, 2003
Surveys from 274 families with at least one child with fragile X syndrome (FXS) were used to determine factors associated with the discovery of the diagnosis in a study at the University of North Carolina, Chapel Hill, NC.
J Gordon Millichap
doaj   +1 more source

THE FRAGILE X SYNDROME

open access: yesInternational Journal of Clinical Practice, 1994
SUMMARYThe contributions of fragile X syndrome to mental retardation have been underestimated. It is the most common form of familial mental retardation and one of the most common genetic diseases. Its long‐term burden upon families and services is considerable.
openaire   +2 more sources

Eutectozymes as Soft Hybrid Materials for Advanced Biocatalysis

open access: yesAdvanced Materials, EarlyView.
Eutectozymes are sustainable hybrid materials that embed a GOx–HRP cascade within hydrophobic eutectogels featuring a dual supramolecular–covalent network. This architecture preserves native enzyme structure and stability, enables efficient heterogeneous biocatalysis in aqueous media, and positions eutectogels as robust platforms for next‐generation ...
Manuel Eduardo Martinez Cartagena   +10 more
wiley   +1 more source

Auditory Processing in Fragile X Syndrome

open access: yesFrontiers in Cellular Neuroscience, 2014
Fragile X syndrome (FXS) is an inherited form of intellectual disability and autism. Among other symptoms, FXS patients demonstrate abnormalities in sensory processing and communication.
Sarah E Rotschafer, Khaleel A Razak
doaj   +1 more source

2D MOF with Intrinsic Porosity for Colorimetric Volatile Organic Compounds (VOCs) Detection

open access: yesAdvanced Materials, EarlyView.
An uncommon 2D MOF with intrinsic in‐plane porosity that can be mechanically exfoliated undergoes a distinct and reversible colour change upon exposure to various volatile organic compounds. ABSTRACT In this work, we report an uncommon 2D metal–organic framework (MOF) with intrinsic in‐plane porosity that undergoes a distinct and reversible colour ...
Sergio R. Gamarra   +4 more
wiley   +1 more source

Fragile X founder effect and distribution of CGG repeats among the mentally retarded population of Andalusia, South Spain

open access: yesGenetics and Molecular Biology, 2002
Fragile X syndrome is the most common inherited form of mental retardation. We investigated the prevalence of the Fragile X syndrome in the population with mental retardation of unknown etiology in Andalusia, South Spain.
Yolanda de Diego   +5 more
doaj   +1 more source

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