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About 399 results

ALLMedicine™ Smith-Magenis Syndrome Center

Research & Reviews  199 results

Smith-Magenis syndrome: Report of morphological and new functional cardiac findings wit...
https://doi.org/10.1002/ajmg.a.62196
American Journal of Medical Genetics. Part A; Onesimo R, Versacci P et. al.

Apr 3rd, 2021 - Smith-Magenis syndrome (SMS) is a genetic disorder characterized by multiple congenital anomalies, sleep disturbance, behavioral impairment, and intellectual disability. Its genetic cause has been defined as an alteration in the Retinoic Acid-Indu...

Autistic traits and mental health in women with the fragile-X premutation: maternal sta...
https://doi.org/10.1192/bjp.2020.231
The British Journal of Psychiatry : the Journal of Mental... White SJ, Gerber D et. al.

Feb 5th, 2021 - Research on women with the fragile-X premutation (FX-p) has been underrepresented within the field of behavioural phenotypes. To understand whether the FX-p confers risk for autistic traits, depression and anxiety, independent of maternal status. ...

Smith-Magenis syndrome: Clinical and behavioral characteristics in a large retrospectiv...
https://doi.org/10.1111/cge.13906
Clinical Genetics; Rive Le Gouard N, Jacquinet A et. al.

Dec 28th, 2020 - Smith-Magenis syndrome (SMS), characterized by dysmorphic features, neurodevelopmental disorder, and sleep disturbance, is due to an interstitial deletion of chromosome 17p11.2 (90%) or to point mutations in the RAI1 gene. In this retrospective co...

Composite Sleep Problems Observed Across Smith-Magenis Syndrome, MBD5-Associated Neurod...
https://doi.org/10.1007/s10803-020-04666-2
Journal of Autism and Developmental Disorders; Gandhi A, Zhou D et. al.

Aug 25th, 2020 - Caregivers of preschool and elementary school age children with Smith-Magenis syndrome (SMS), MBD5-associated neurodevelopmental disorder (MAND), and Pitt-Hopkins syndrome (PTHS) were surveyed to assess sleep disturbance and to identify disorder-s...

C9orf72-associated SMCR8 protein binds in the ubiquitin pathway and with proteins linke...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7364817
Acta Neuropathologica Communications; Goodier JL, Soares AO et. al.

Jul 17th, 2020 - A pathogenic GGGCCC hexanucleotide expansion in the first intron/promoter region of the C9orf72 gene is the most common mutation associated with amyotrophic lateral sclerosis (ALS). The C9orf72 gene product forms a complex with SMCR8 (Smith-Mageni...

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Clinicaltrials.gov  199 results

Smith-Magenis syndrome: Report of morphological and new functional cardiac findings wit...
https://doi.org/10.1002/ajmg.a.62196
American Journal of Medical Genetics. Part A; Onesimo R, Versacci P et. al.

Apr 3rd, 2021 - Smith-Magenis syndrome (SMS) is a genetic disorder characterized by multiple congenital anomalies, sleep disturbance, behavioral impairment, and intellectual disability. Its genetic cause has been defined as an alteration in the Retinoic Acid-Indu...

Autistic traits and mental health in women with the fragile-X premutation: maternal sta...
https://doi.org/10.1192/bjp.2020.231
The British Journal of Psychiatry : the Journal of Mental... White SJ, Gerber D et. al.

Feb 5th, 2021 - Research on women with the fragile-X premutation (FX-p) has been underrepresented within the field of behavioural phenotypes. To understand whether the FX-p confers risk for autistic traits, depression and anxiety, independent of maternal status. ...

Smith-Magenis syndrome: Clinical and behavioral characteristics in a large retrospectiv...
https://doi.org/10.1111/cge.13906
Clinical Genetics; Rive Le Gouard N, Jacquinet A et. al.

Dec 28th, 2020 - Smith-Magenis syndrome (SMS), characterized by dysmorphic features, neurodevelopmental disorder, and sleep disturbance, is due to an interstitial deletion of chromosome 17p11.2 (90%) or to point mutations in the RAI1 gene. In this retrospective co...

Composite Sleep Problems Observed Across Smith-Magenis Syndrome, MBD5-Associated Neurod...
https://doi.org/10.1007/s10803-020-04666-2
Journal of Autism and Developmental Disorders; Gandhi A, Zhou D et. al.

Aug 25th, 2020 - Caregivers of preschool and elementary school age children with Smith-Magenis syndrome (SMS), MBD5-associated neurodevelopmental disorder (MAND), and Pitt-Hopkins syndrome (PTHS) were surveyed to assess sleep disturbance and to identify disorder-s...

C9orf72-associated SMCR8 protein binds in the ubiquitin pathway and with proteins linke...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7364817
Acta Neuropathologica Communications; Goodier JL, Soares AO et. al.

Jul 17th, 2020 - A pathogenic GGGCCC hexanucleotide expansion in the first intron/promoter region of the C9orf72 gene is the most common mutation associated with amyotrophic lateral sclerosis (ALS). The C9orf72 gene product forms a complex with SMCR8 (Smith-Mageni...

see more →

News  1 results

Smith-Magenis Syndrome (SMS) Research Symposium to Take Place February 4-5
https://www.mdedge.com/pediatrics/article/105117/rare-diseases/smith-magenis-syndrome-sms-research-symposium-take-place

Dec 11th, 2015 - PRISMS (Parents and Researchers Interested in Smith-Magenis Syndrome) is accepting abstracts and registration for its 8th SMS Research Symposium to take place in Houston on Feb. 4-5, 2016.

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