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

Application of the New IMWG/IMS High-Risk Classification for Multiple Myeloma: Analysis of a Large Real-World Romanian Cohort.

Journal: International journal of molecular sciences

Published: April 10, 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.

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

A Clinical Practice Example of Smith-Magenis Syndrome in the Neuropediatric Clinic: Etiology, Clinical Presentation, Diagnostics and Therapeutic Approaches-A Case Report.

Journal: Children (Basel, Switzerland)

Published: December 03, 2025

Sleep disorders in children with Smith-Magenis Syndrome - a neurodevelopmental disorder with sleep-wake-rhythm-dysfunction - recommendations for pediatricians.

Journal: Sleep & breathing = Schlaf & Atmung

Published: November 25, 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.

Application of the New IMWG/IMS High-Risk Classification for Multiple Myeloma: Analysis of a Large Real-World Romanian Cohort.

Application of the New IMWG/IMS High-Risk Classification for Multiple Myeloma: Analysis of a Large Real-World Romanian Cohort.

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.

Bilateral Rhegmatogenous Retinal Detachments in An Adolescent with Smith-Magenis Syndrome.

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.

A Clinical Practice Example of Smith-Magenis Syndrome in the Neuropediatric Clinic: Etiology, Clinical Presentation, Diagnostics and Therapeutic Approaches-A Case Report.

A Clinical Practice Example of Smith-Magenis Syndrome in the Neuropediatric Clinic: Etiology, Clinical Presentation, Diagnostics and Therapeutic Approaches-A Case Report.

Sleep disorders in children with Smith-Magenis Syndrome - a neurodevelopmental disorder with sleep-wake-rhythm-dysfunction - recommendations for pediatricians.

Sleep disorders in children with Smith-Magenis Syndrome - a neurodevelopmental disorder with sleep-wake-rhythm-dysfunction - recommendations for pediatricians.