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Smith-Magenis syndrome
Known as:
Smith-Magenis Syndrome [Disease/Finding]
, Smith Magenis Syndrome
, CHROMOSOME 17p11.2 DELETION SYNDROME
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Complex neurobehavioral disorder characterized by distinctive facial features (FACIES), developmental delay and INTELLECTUAL DISABILITY. Behavioral…
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National Institutes of Health
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Related topics
Related topics
28 relations
Abnormal behavior
Abnormal renal morphology
Autosomal dominant inheritance
Brachycephaly
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Broader (3)
Congenital chromosomal disease
Mental Retardation
Syndrome
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
S. Girirajan
,
C. Vlangos
,
+6 authors
S. Elsea
Genetics in Medicine
2006
Corpus ID: 43748193
Purpose: Smith-Magenis syndrome (SMS) is a complex disorder that includes mental retardation, craniofacial and skeletal anomalies…
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Highly Cited
2001
Highly Cited
2001
Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome.
H. de Leersnyder
,
M. D. de Blois
,
+8 authors
A. Munnich
The Journal of pediatrics
2001
Corpus ID: 13863898
OBJECTIVE The objective was to determine the circadian rhythm of melatonin in the Smith-Magenis syndrome (SMS), which causes…
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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
N. Liburd
,
M. Ghosh
,
+13 authors
T. Friedman
Human Genetics
2001
Corpus ID: 20812371
Abstract. Mutations in myosin XVA are responsible for the shaker 2 (sh2) phenotype in mice and nonsyndromic autosomal recessive…
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Highly Cited
2000
Highly Cited
2000
Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome
L. Potocki
,
D. Glaze
,
+5 authors
J. Lupski
Journal of medical genetics
2000
Corpus ID: 14914694
BACKGROUND Smith-Magenis syndrome (SMS) is a multiple congenital anomalies/mental retardation syndrome associated with a…
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Highly Cited
1998
Highly Cited
1998
Sleep disturbance in Smith-Magenis syndrome (del 17 p11.2).
A. Smith
,
E. Dykens
,
F. Greenberg
American journal of medical genetics
1998
Corpus ID: 5661505
Smith-Magenis syndrome (SMS) is a clinically recognizable multiple congenital anomaly and mental retardation syndrome caused by…
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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…
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Highly Cited
1997
Highly Cited
1997
[Smith-Magenis syndrome].
M. O. Livet
,
A. Moncla
,
B. Delobel
,
M. Croquette
,
N. Philip
,
L. Vallée
Archives de pediatrie : organe officiel de la…
1997
Corpus ID: 6947578
Smith-Magenis syndrome is caused by a 17p11.2 deletion. It associates mental retardation, facial dysmorphism and brachydactyly…
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Highly Cited
1996
Highly Cited
1996
Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)
F. Greenberg
,
R. Lewis
,
+11 authors
J. Lupski
American journal of medical genetics
1996
Corpus ID: 7387860
Smith-Magenis syndrome (SMS) is a multiple congenital anomaly, mental retardation (MCA/MR) syndrome associated with deletion of…
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Highly Cited
1996
Highly Cited
1996
Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients.
R. Juyal
,
L. Figuera
,
+5 authors
P. Patel
American journal of human genetics
1996
Corpus ID: 8417110
Smith-Magenis syndrome (SMS) is a clinically recognizable, multiple congenital anomalies/mental retardation syndrome caused by an…
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Highly Cited
1994
Highly Cited
1994
The Spasmodic Upper‐body Squeeze: a Chalacteristic Behavior in Smith‐Magenis Syndrome
B. Finucane
,
Deborah Konar
,
Barbara Haas‐ Givler
,
Michael B. Kurtt
,
Charles I. Scott
Developmental medicine and child neurology
1994
Corpus ID: 12538894
The authors have observed a hand‐ and arm‐squeezing behavior that seems to be highly characteristic of Smith‐Magenis syndrome…
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