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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.
2016
2016
Therapeutic support for a child with Smith-Magenis Syndrome. The paradigm of therapy for children with genetic abnormality
B. Mithieux
2016
Corpus ID: 147840108
In this article the writer describes the stages and evolution of the therapy for a child with Smith-Magenis Syndrome. Children…
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Review
2012
Review
2012
The behavioural and cognitive phenotype of Smith-Magenis syndrome
L. Wilde
2012
Corpus ID: 140391430
Background: Attention-seeking and impulsivity are reported to be problematic in Smith-Magenis syndrome (SMS) and have been linked…
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2009
2009
A Comparative Study of Sensory Processing in Children with Smith-Magenis Syndrome and Children with Autism
2009
Corpus ID: 11093744
S 5 SMS Research Roundtable -Thursday, September 17, 2009 Hyatt Regency Reston, VA SESSION I: LESSONS FROM THE BEDSIDE – CLINICAL…
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2009
2009
"Frog, where are you"? Story performance in two rare genetic conditions: williams syndrome and smith-magenis syndrome
E. Garayzábal
,
Esther Moruno López
2009
Corpus ID: 88273125
2008
2008
Sindrome di Smith Magenis da delezione 17q 11.2: descrizione di un caso ad elevata espressività clinica
M. Piccione
,
V. Consiglio
,
+4 authors
G. Corsello
2008
Corpus ID: 183548529
2008
2008
Interview with R. Ellen Magenis, M.D.
R. Magenis
,
S. Hayflick
2008
Corpus ID: 146156856
2007
2007
Sprachentwicklungsbehinderung beim Smith-Magenis-Syndrom
C. Bergmann
,
S. Morlot
,
M. Ptok
HNO (Berlin. Print)
2007
Corpus ID: 24892260
ZusammenfassungDas Smith-Magenis-Syndrom (SMS) ist durch eine interstitielle Deletion am kurzen Arm des Chromosoms 17 p11.2…
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2006
2006
Smith-Magenis Syndrome in Chinese with Previously Unreported Craniofacial Features and Association with Joubert Phenotype
A. Lam
,
K. Lai
,
Atc Chau
,
LP Cheng
,
Sts Lam
2006
Corpus ID: 5435355
Smith-Magenis syndrome (SMS) is a clinically recognisable multiple congenital anomalies syndrome marked by distinctive…
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1999
1999
Isochromosome 17 q in Blast Crisis of Chronic Myeloid Leukemia and in Other Hematologic Malignancies Is the Result of Clustered Breakpoints in 17 p 11 and Is Not Associated With Coding TP 53…
T. Fioretos
,
B. Strömbeck
,
+8 authors
M. Höglund
1999
Corpus ID: 26231845
An isochromosome of the long arm of chromosome 17, i(17q), is the most frequent genetic abnormality observed during the disease…
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1994
1994
Overlap of clinical features of Smith-Magenis & Down Syndrome in newborns and infants
K. Thomson
,
B. Finucane
,
Bauer
1994
Corpus ID: 80756926
Smith-Magenis Syndrome (SMS) frequently goes unrecognized in newborns and infants as these patients do not yet demonstrate the…
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