Results 41 to 50 of about 91,816 (261)

Diagnosis of Fragile X Syndrome

Pediatric Neurology Briefs, 1991
Direct diagnosis by DNA analysis of the fragile X syndrome was studied in 511 persons from 63 families with the syndrome at the Institute National de la Sante et de la Recherce Medicale (INSERM), Unite 184, Faculte de Medecine, Strasbourg, France and ...
J Gordon Millichap
doaj   +1 more source

Mechanical Programming of PEGDA‐β‐CD Polyrotaxane‐Based Hydrogels via Host–Guest Molecular Recognition

Advanced Functional Materials, EarlyView.
A mechanically programmable hydrogel for tissue engineering is developed by modulating the molecular threading density of poly(ethylene glycol) diacrylate‐β‐cyclodextrin (PEGDA‐β‐CD) polyrotaxane and combining it with β‐CD‐modified gelatin. The polyrotaxane‐guided transition from disordered pores to laminar microstructures enables precise tuning ...
Shiyi Chen, Xudan Xing, Haopu Su, Dominik Voll, Xiaohe Xu, Jiafeng Wan, Tongtong Cui, Christian W. Schmitt, Stefan Bräse, Peng Li, Patrick Théato   +10 more
wiley   +1 more source

Epilepsy and Fragile X Syndrome

Pediatric Neurology Briefs, 2003
The seizure history of 136 patients with fragile X syndrome (FXS), (age range 2 to 51 years; 113 males and 23 females), were reviewed at RUSH-Presbyterian-St Luke’s Medical Center, Chicago, IL.
J Gordon Millichap
doaj   +1 more source

Microfluidic Nano‐Assembly of Red‐Blood‐Cell (RBC) Lipids and Components for Engineering Extracellular Vesicles

Advanced Healthcare Materials, EarlyView.
Engineered red blood cell‐derived extracellular vesicles (eRBCEVs) are synthesized via controlled microfluidic assembly from native RBC lipids, enabling tunable encapsulation of proteins, nucleic acids, nanoparticles, and viral vectors. The platform demonstrates reproducible nanoscale architecture, preserved membrane composition, and functional cargo ...
Chiranth K. Nagaraj, Xilal Y. Rima, Kim T. Nguyen, Courtney Culkins, Nana Boateng, Jacob Doon‐Ralls, Alejandro Bresolin, Xin Huang, Hong Li, Vahedi Amid, Ajeet Pal Singh, Dharti Shantaram, Anastasiia Amari, Mangesh D. Hade, Nicholas R. Merriam, Zachary D. Schultz, Scott Q. Harper, Nizar Y. Saad, Setty M. Magaña, Willa A. Hsueh, Rachel E. Kopec, Blaise R. Kimmel, Andre F. Palmer, Eduardo Reátegui   +23 more
wiley   +1 more source

Multicomponent Peptide‐MXene‐Hyaluronic Acid Hydrogel as a Conductive Scaffold for Enhanced Fibroblast Proliferation and Migration Under Electrical Stimulation

Advanced Healthcare Materials, EarlyView.
An electrically conductive FmocFF/MXene/hyaluronic acid hydrogel combines extracellular matrix‐like architecture, self‐healing behavior, oxidation‐resistant conductivity, and biochemical cues in a single scaffold. By enabling physiologically relevant electrical stimulation, the platform enhances fibroblast attachment, proliferation, and migration ...
Offir Loboda, Dana Cohen‐Gerassi, Dor Aaron Goldstein, Or Messer, Bar Favelukis, Ehud Gazit, Maxim Sokol, Lihi Adler‐Abramovich   +7 more
wiley   +1 more source

Screening for fragile X syndrome.

Health Technology Assessment, 1997
: BACKGROUND AND AIM OF REVIEW. In 1991, the gene responsible for fragile X syndrome, a common cause of learning disability, was discovered. As a result, diagnosis of the disorder has improved and its molecular genetics are now understood.
Murray, Cuckle, Taylor, Hewison
doaj   +1 more source

Epigenetics of fragile X syndrome and fragile X‐related disorders [PDF]

Developmental Medicine & Child Neurology, 2018
The fragile X mental retardation 1 gene (FMR1)‐related disorder fragile X syndrome (FXS) is the most common heritable form of cognitive impairment and the second most common cause of comorbid autism.FXSusually results when a premutation trinucleotideCGGrepeat in the 5′ untranslated region of theFMR1gene (CGG55–200) expands over generations to a full ...
Claudine M Kraan, David E Godler, David J Amor   +2 more
openaire   +3 more sources

From Cell‐Derived Vesicles to Hybrid Nanovectors: Biological Membranes as Functional Blueprints for Gene Delivery

Advanced Healthcare Materials, EarlyView.
Biologically derived and hybrid nonviral nanovectors are examined as distinct but convergent design approaches. Integrating synthetic components with biologically functionalized membranes allows efficient interactions with complex cellular environments.
Clara Baldari, Claudia Leone, Gabriella Leccese, Claudia De Stradis, Alessandra Invidia, Concetta Quintarelli, Biagio De Angelis, Franco Locatelli, Giuseppe Gigli, Gabriele Maiorano, Ilaria Elena Palamà   +10 more
wiley   +1 more source

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

Advanced 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, Jordan Santiago Martinez, M. Asunción Molina, Jaime Mazarío, Lucy Costley‐Wood, Christian Cerezo‐Navarrete, Carlo Marini, Eduardo Villalobos‐Portillo, Andrew M. Beale, Pascual Oña‐Burgos   +9 more
wiley   +1 more source

Genetic/Environmental Influences in Fragile X Disease

Pediatric Neurology Briefs, 2002
The genetic and environmental factors influencing cognitive outcomes in 120 children (80 boys and 40 girls) with the fragile X full mutation and their unaffected siblings were determined by in-home evaluations and reported from the Departments of ...
J Gordon Millichap
doaj   +1 more source