Smith-Magenis Syndrome Latest Advances

RAI1 safeguards fidelity and tempo of human neurodevelopmental gene expression.

Journal: bioRxiv : the preprint server for biology

Published: June 22, 2026

Potential Contributions of Sleep and Circadian Rhythms to Behavioral Difficulties in Children with Smith-Magenis Syndrome in Real Life: An Actigraphy-Based Study.

Journal: Children (Basel, Switzerland)

Published: June 16, 2026

Weight Loss Following Liraglutide Therapy in a Patient With Smith-Magenis Syndrome: A Case Report.

Journal: Cureus

Published: May 31, 2026

From Behavioral and Sleep Disturbances to Genetic Diagnosis: Smith-Magenis Syndrome and the Importance of the Diagnostic Pathway.

Journal: Developmental neurobiology

Published: April 04, 2026

CRISPR screening identifies TRIM27 as a destabilizer of the Smith-Magenis syndrome protein RAI1.

Journal: Genetics

Published: April 03, 2026

FLCN-Mutated Tumors in Smith-Magenis Syndrome: A Case Report of FLCN-Associated Pathogenesis.

Journal: International journal of surgical pathology

Published: March 13, 2026

A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization.

Journal: Frontiers in endocrinology

Published: February 27, 2026

Beyond "low tone". What do the General Movements Assessment and Motor Optimality Score tell us about infants with developmental central hypotonia? A scoping review.

Journal: Early human development

Published: February 20, 2026

Tirzepatide for weight and behavior management in a patient with Smith-Magenis syndrome.

Journal: JCEM case reports

Published: January 23, 2026

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith-Magenis Syndrome.

Journal: American journal of medical genetics. Part A

Published: January 02, 2026

Bilateral Rhegmatogenous Retinal Detachments in an Adolescent with Smith-Magenis Syndrome: A Case Report.

Journal: Korean journal of ophthalmology : KJO

Published: December 22, 2025

Sexual Health and Transition Needs in an Adolescent Girl With Attention-deficit Hyperactivity Disorder and Smith-magenis Syndrome.

Journal: Journal of developmental and behavioral pediatrics : JDBP

Published: December 15, 2025

Smith-Magenis Syndrome Latest Advances

Find the Latest Research About Smith-Magenis Syndrome

RAI1 safeguards fidelity and tempo of human neurodevelopmental gene expression.

RAI1 safeguards fidelity and tempo of human neurodevelopmental gene expression.

Potential Contributions of Sleep and Circadian Rhythms to Behavioral Difficulties in Children with Smith-Magenis Syndrome in Real Life: An Actigraphy-Based Study.

Potential Contributions of Sleep and Circadian Rhythms to Behavioral Difficulties in Children with Smith-Magenis Syndrome in Real Life: An Actigraphy-Based Study.

Weight Loss Following Liraglutide Therapy in a Patient With Smith-Magenis Syndrome: A Case Report.

Weight Loss Following Liraglutide Therapy in a Patient With Smith-Magenis Syndrome: A Case Report.

From Behavioral and Sleep Disturbances to Genetic Diagnosis: Smith-Magenis Syndrome and the Importance of the Diagnostic Pathway.

From Behavioral and Sleep Disturbances to Genetic Diagnosis: Smith-Magenis Syndrome and the Importance of the Diagnostic Pathway.

CRISPR screening identifies TRIM27 as a destabilizer of the Smith-Magenis syndrome protein RAI1.

CRISPR screening identifies TRIM27 as a destabilizer of the Smith-Magenis syndrome protein RAI1.

FLCN-Mutated Tumors in Smith-Magenis Syndrome: A Case Report of FLCN-Associated Pathogenesis.

FLCN-Mutated Tumors in Smith-Magenis Syndrome: A Case Report of FLCN-Associated Pathogenesis.

A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization.

A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization.

Beyond "low tone". What do the General Movements Assessment and Motor Optimality Score tell us about infants with developmental central hypotonia? A scoping review.

Beyond "low tone". What do the General Movements Assessment and Motor Optimality Score tell us about infants with developmental central hypotonia? A scoping review.

Tirzepatide for weight and behavior management in a patient with Smith-Magenis syndrome.

Tirzepatide for weight and behavior management in a patient with Smith-Magenis syndrome.

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith-Magenis Syndrome.

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith-Magenis Syndrome.

Bilateral Rhegmatogenous Retinal Detachments in an Adolescent with Smith-Magenis Syndrome: A Case Report.

Bilateral Rhegmatogenous Retinal Detachments in an Adolescent with Smith-Magenis Syndrome: A Case Report.

Sexual Health and Transition Needs in an Adolescent Girl With Attention-deficit Hyperactivity Disorder and Smith-magenis Syndrome.

Sexual Health and Transition Needs in an Adolescent Girl With Attention-deficit Hyperactivity Disorder and Smith-magenis Syndrome.