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… (More)
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

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Review
2013
Review
2013
Smith-Magenis syndrome.
Smith-Magenis syndrome (SMS) is a mental retardation syndrome with distinctive behavioral characteristics, dysmorphic features… (More)
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2010
2010
Autism spectrum features in Smith-Magenis syndrome.
Smith-Magenis syndrome (SMS; OMIM 182290) is a neurodevelopmental disorder characterized by a well-defined pattern of anomalies… (More)
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2009
2009
A functional network module for Smith-Magenis syndrome.
Disorders with overlapping diagnostic features are grouped into a network module. Based on phenotypic similarities or… (More)
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2005
2005
RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions.
BACKGROUND Smith-Magenis syndrome (SMS) (OMIM No 182290) is a mental retardation syndrome characterised by behavioural… (More)
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2001
2001
Abilities and attainment in Smith-Magenis syndrome.
This study reports on cognitive abilities and attainment in 29 children and 21 adults with Smith-Magenis syndrome. There were 13… (More)
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2001
2001
Otorhinolaringologic manifestation of Smith-Magenis syndrome.
Smith-Magenis syndrome (SMS) is a multiple congenital anomaly/mental retardation (MCA/MR) syndrome link to a contiguous-gene… (More)
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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… (More)
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1998
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… (More)
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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… (More)
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1996
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… (More)
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