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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… 
National Institutes of Health

Related topics

Related topics

28 relations
Abnormal behaviorAbnormal renal morphologyAutosomal dominant inheritanceBrachycephaly

Broader (3)

Congenital chromosomal diseaseMental RetardationSyndrome

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2004
2004
Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith-Magenis syndrome.
Smith-Magenis syndrome (SMS) is a multiple congenital anomaly/mental retardation syndrome associated with del(17)(p11.2p11.2… 
1997
1997
Definition of the critical interval for Smith-Magenis syndrome.
Smith-Magenis syndrome (SMS) comprises a complex physical and behavioral phenotype that is associated with an interstitial… 
1996
1996
Mosaicism for del(17)(p11.2p11.2) underlying the Smith-Magenis syndrome.
Smith-Magenis syndrome (SMS) is a multiple congenital anomalies/mental retardation syndrome associated with deletion of band p11… 
1996
1996
Two patients with duplication of 17p11.2: the reciprocal of the Smith-Magenis syndrome deletion?
J.M. and H.G. are two unrelated male patients with developmental delay. Cytogenetic analysis detected a duplication of 17p11.2 in… 
Highly Cited
1995
Highly Cited
1995
The human homologue of the Drosophila melanogaster flightless-I gene (flil) maps within the Smith-Magenis microdeletion critical region in 17p11.2.
The Smith-Magenis syndrome (SMS) appears to be a contiguous-gene-deletion syndrome associated with a proximal deletion of the… 
1995
1995
Haploinsufficiency of cytosolic serine hydroxymethyltransferase in the Smith-Magenis syndrome.
Folate-dependent one-carbon metabolism is critical for the synthesis of numerous cellular constituents required for cell growth… 
Highly Cited
1993
Highly Cited
1993
Eye abnormalities in the Smith-Magenis contiguous gene deletion syndrome.
We present the results of ophthalmologic assessment in 10 patients with interstitial chromosome deletions of 17p11.2, otherwise… 
1993
1993
Relationship between Charcot-Marie-Tooth 1A and Smith-Magenis regions. snU3 may be a candidate gene for the Smith-Magenis syndrome.
The juxtacentromeric region of the human chromosome 17 short arm (17p11.2-p12) contains genes involved in the Charcot-Marie-Tooth… 
Review
1993
Review
1993
Constitutional Interstitial Deletion of 17(p11.2) (Smith-Magenis Syndrome): A Clinically Recognizable Microdeletion Syndrome
We present two patients, a 12 year old Turkish and a 7 year old Italian girl, with severe mental retardation, multiple congenital… 
1991
1991
Diagnostic hand anomalies in Smith-Magenis syndrome: four new patients with del (17)(p11.2p11.2)
We report clinical and cytogenetic findings of 4 children (2 boys and 2 girls) with the Smith-Magenis syndrome. All 4 patients… 
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