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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

Papers overview

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Highly Cited
2006
Highly Cited
2006
Purpose: Smith-Magenis syndrome (SMS) is a complex disorder that includes mental retardation, craniofacial and skeletal anomalies… Expand
Highly Cited
2001
Highly Cited
2001
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
Abstract. Mutations in myosin XVA are responsible for the shaker 2 (sh2) phenotype in mice and nonsyndromic autosomal recessive… Expand
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Highly Cited
2000
Highly Cited
2000
BACKGROUND Smith-Magenis syndrome (SMS) is a multiple congenital anomalies/mental retardation syndrome associated with a… Expand
Highly Cited
1998
Highly Cited
1998
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
  • 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 is caused by a 17p11.2 deletion. It associates mental retardation, facial dysmorphism and brachydactyly… Expand
Highly Cited
1996
Highly Cited
1996
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
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 authors have observed a hand‐ and arm‐squeezing behavior that seems to be highly characteristic of Smith‐Magenis syndrome… Expand