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Smith-Magenis syndrome

Known as: Smith-Magenis Syndrome [Disease/Finding], Smith Magenis Syndrome, CHROMOSOME 17p11.2 DELETION SYNDROME 
Complex neurobehavioral disorder characterized by distinctive facial features (FACIES), developmental delay and INTELLECTUAL DISABILITY. Behavioral… Expand
National Institutes of Health

Related topics

Related topics

28 relations
Abnormal behaviorAbnormal renal morphologyAutosomal dominant inheritanceBrachycephaly
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Broader (3)

Congenital chromosomal diseaseMental RetardationSyndrome

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2006
Highly Cited
2006
Genotype–phenotype correlation in Smith-Magenis syndrome: Evidence that multiple genes in 17p11.2 contribute to the clinical spectrum
Purpose: Smith-Magenis syndrome (SMS) is a complex disorder that includes mental retardation, craniofacial and skeletal anomalies… Expand
Highly Cited
2001
Highly Cited
2001
Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome.
OBJECTIVE The objective was to determine the circadian rhythm of melatonin in the Smith-Magenis syndrome (SMS), which causes… Expand
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Highly Cited
2001
Highly Cited
2001
Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome
Abstract. Mutations in myosin XVA are responsible for the shaker 2 (sh2) phenotype in mice and nonsyndromic autosomal recessive… Expand
  • table 1
Highly Cited
2000
Highly Cited
2000
Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome
BACKGROUND Smith-Magenis syndrome (SMS) is a multiple congenital anomalies/mental retardation syndrome associated with a… Expand
Highly Cited
1998
Highly Cited
1998
Sleep disturbance in Smith-Magenis syndrome (del 17 p11.2).
Smith-Magenis syndrome (SMS) is a clinically recognizable multiple congenital anomaly and mental retardation syndrome caused by… Expand
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Highly Cited
1998
Highly Cited
1998
Distinctiveness and correlates of maladaptive behaviour in children and adolescents with Smith-Magenis syndrome.
  • E. Dykens, A. Smith
  • Journal of intellectual disability research…
  • 1998
    • Corpus ID: 38105992
This two-part study examines the distinctiveness and correlates of maladaptive behaviour in 35 children and adolescents with… Expand
Highly Cited
1997
Highly Cited
1997
[Smith-Magenis syndrome].
Smith-Magenis syndrome is caused by a 17p11.2 deletion. It associates mental retardation, facial dysmorphism and brachydactyly… Expand
Highly Cited
1996
Highly Cited
1996
Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)
Smith-Magenis syndrome (SMS) is a multiple congenital anomaly, mental retardation (MCA/MR) syndrome associated with deletion of… Expand
Highly Cited
1996
Highly Cited
1996
Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients.
Smith-Magenis syndrome (SMS) is a clinically recognizable, multiple congenital anomalies/mental retardation syndrome caused by an… Expand
Highly Cited
1994
Highly Cited
1994
The Spasmodic Upper‐body Squeeze: a Chalacteristic Behavior in Smith‐Magenis Syndrome
The authors have observed a hand‐ and arm‐squeezing behavior that seems to be highly characteristic of Smith‐Magenis syndrome… Expand
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