FMR1 triplet arrays: paying the price for perfection

Impaired long-term potentiation in the prefrontal cortex of Huntington's disease mouse models: rescue by D1 dopamine receptor activation.

Neuro-degenerative diseases·2011

Instability of a (CGG)98 repeat in the Fmr1 promoter.

Human molecular genetics·2001

Stability of the human fragile X (CGG)(n) triplet repeat array in Saccharomyces cerevisiae deficient in aspects of DNA metabolism.

Molecular and cellular biology·1999

Cloned human FMR1 trinucleotide repeats exhibit a length- and orientation-dependent instability suggestive of in vivo lagging strand secondary structure.

Nucleic acids research·1998

Sequence analysis of long FMR1 arrays in the Japanese population: insights into the generation of long (CGG)n tracts.

Human genetics·1997

Nucleosome assembly on methylated CGG triplet repeats in the fragile X mental retardation gene 1 promoter.

The Journal of biological chemistry·1996

Exploring the clinical and mutational spectrum of MORC2-associated disorders.

Journal of medical genetics·2026

Founder variant in OTOG causing non-syndromic sensorineural hearing loss in Irish traveller population.

Journal of medical genetics·2026

Risk of breast cancer after ovarian cancer in germline BRCA1/2 heterozygotes.

Journal of medical genetics·2026

Rapid minigene workflow for functional reclassification of splicing variants in hereditary cancer diagnostics.

Journal of medical genetics·2026

Childhood-onset neurodegeneration and brain atrophy: defining UBTF-related developmental regression and progressive ataxia.

Journal of medical genetics·2026

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

Journal of medical genetics·2026

Optimization of Magnetic Abrasive Finishing Parameters for Co-Cr Alloy Vascular Stent Tubing Using PSO-SVM.

Micromachines·2026

AI Applied to Formulation Design, Process Optimization, and Quality Control in 3D Printed Drug Products: Protocol for a Scoping Review.

JMIR research protocols·2026

Design space optimization of roller compaction incorporating mill type and process parameters to mitigate loss of tabletability using a Box-Behnken experimental design.

Drug development and industrial pharmacy·2026

Metrological Evaluation of Dimensional and Surface Roughness of Thermoplastic PLA Parts in High-Speed MEX 3D Printing Using a Dodecahedron Benchmark Geometry.

Materials (Basel, Switzerland)·2026

Correction: Automated robotic arm system for real-time multi-parameter quality assessment of raw milk in cheese manufacturing.

PloS one·2026

Applying the design-build-test-learn framework to precision fermentation for sustainable food ingredients.

Food science and biotechnology·2026

Related Experiment Videos

FMR1 triplet arrays: paying the price for perfection

Related Concept Videos

Impaired long-term potentiation in the prefrontal cortex of Huntington's disease mouse models: rescue by D1 dopamine receptor activation.

Instability of a (CGG)98 repeat in the Fmr1 promoter.

Stability of the human fragile X (CGG)(n) triplet repeat array in Saccharomyces cerevisiae deficient in aspects of DNA metabolism.

Cloned human FMR1 trinucleotide repeats exhibit a length- and orientation-dependent instability suggestive of in vivo lagging strand secondary structure.

Sequence analysis of long FMR1 arrays in the Japanese population: insights into the generation of long (CGG)n tracts.

Nucleosome assembly on methylated CGG triplet repeats in the fragile X mental retardation gene 1 promoter.

Exploring the clinical and mutational spectrum of MORC2-associated disorders.

Founder variant in OTOG causing non-syndromic sensorineural hearing loss in Irish traveller population.

Risk of breast cancer after ovarian cancer in germline BRCA1/2 heterozygotes.

Rapid minigene workflow for functional reclassification of splicing variants in hereditary cancer diagnostics.

Childhood-onset neurodegeneration and brain atrophy: defining UBTF-related developmental regression and progressive ataxia.

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

Optimization of Magnetic Abrasive Finishing Parameters for Co-Cr Alloy Vascular Stent Tubing Using PSO-SVM.

AI Applied to Formulation Design, Process Optimization, and Quality Control in 3D Printed Drug Products: Protocol for a Scoping Review.

Design space optimization of roller compaction incorporating mill type and process parameters to mitigate loss of tabletability using a Box-Behnken experimental design.

Metrological Evaluation of Dimensional and Surface Roughness of Thermoplastic PLA Parts in High-Speed MEX 3D Printing Using a Dodecahedron Benchmark Geometry.

Correction: Automated robotic arm system for real-time multi-parameter quality assessment of raw milk in cheese manufacturing.

Applying the design-build-test-learn framework to precision fermentation for sustainable food ingredients.

Related Experiment Videos

FMR1 triplet arrays: paying the price for perfection

Related Concept Videos

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