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Mental Retardation
Known as:
PSYKISK UTVIKLINGSHEMMET - f70 - f71 - f72 - f73 - f78 - f79
, ATZERAPEN MENTALA
, RETARDATION MENTAL
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A developmental disorder characterized by less than average intelligence and significant limitations in adaptive behavior with onset before the age…
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National Institutes of Health
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Related topics
Related topics
50 relations
3-methylcrotonyl CoA carboxylase 1 deficiency
BARDET-BIEDL SYNDROME 13
BARDET-BIEDL SYNDROME 16
Bardet-Biedl syndrome 1 (disorder)
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Narrower (5)
Fragile X Syndrome
Gaucher Disease
Neuronal Ceroid-Lipofuscinoses
Oculocerebrorenal Syndrome
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2009
Highly Cited
2009
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
P. Tarpey
,
Raffaella Smith
,
+77 authors
M. Stratton
Nature Genetics
2009
Corpus ID: 13940546
Large-scale systematic resequencing has been proposed as the key future strategy for the discovery of rare, disease-causing…
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Highly Cited
2009
Highly Cited
2009
Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10
U. Scholl
,
Murim Choi
,
+7 authors
R. Lifton
Proceedings of the National Academy of Sciences…
2009
Corpus ID: 97925
We describe members of 4 kindreds with a previously unrecognized syndrome characterized by seizures, sensorineural deafness…
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Highly Cited
2008
Highly Cited
2008
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures
A. Sharp
,
H. Mefford
,
+31 authors
E. Eichler
Nature Genetics
2008
Corpus ID: 2309063
We report a recurrent microdeletion syndrome causing mental retardation, epilepsy and variable facial and digital dysmorphisms…
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Highly Cited
2005
Highly Cited
2005
Diagnostic genome profiling in mental retardation.
B. D. de Vries
,
R. Pfundt
,
+15 authors
J. Veltman
American Journal of Human Genetics
2005
Corpus ID: 24048810
Mental retardation (MR) occurs in 2%-3% of the general population. Conventional karyotyping has a resolution of 5-10 million…
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Review
2001
Review
2001
Methodological issues in interviewing and using self-report questionnaires with people with mental retardation.
W. Finlay
,
E. Lyons
Psychological Assessment
2001
Corpus ID: 28524024
In this article the authors review methodological issues that arise when interviews and self-report questionnaires are used with…
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Highly Cited
2000
Highly Cited
2000
Varieties of Repetitive Behavior in Autism: Comparisons to Mental Retardation
J. Bodfish
,
F. Symons
,
D. E. Parker
,
M. Lewis
Journal of Autism and Developmental Disorders
2000
Corpus ID: 16706630
Systematic study of abnormal repetitive behaviors in autism has been lacking despite the diagnostic significance of such behavior…
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Highly Cited
1998
Highly Cited
1998
PAK3 mutation in nonsyndromic X-linked mental retardation
K. Allen
,
J. Gleeson
,
+5 authors
C. Walsh
Nature Genetics
1998
Corpus ID: 16041444
Nonsyndromic X-linked mental retardation (MRX) syndromes are clinically homogeneous but genetically heterogeneous disorders…
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Review
1997
Review
1997
Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics.
C. Curry
,
R. Stevenson
,
+12 authors
John M. Opitz
American journal of medical genetics
1997
Corpus ID: 39666698
A Consensus Conference utilizing available literature and expert opinion sponsored by the American College of Medical Genetics in…
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Highly Cited
1995
Highly Cited
1995
The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation
J. Flint
,
A. Wilkie
,
V. Buckle
,
R. Winter
,
A. Holland
,
H. McDermid
Nature Genetics
1995
Corpus ID: 21526028
A major challenge for human genetics is to identify new causes of mental retardation, which, although present in about 3% of…
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Highly Cited
1993
Highly Cited
1993
A point mutation in the FMR-1 gene associated with fragile X mental retardation
K. Boulle
,
A. Verkerk
,
+7 authors
P. Willems
Nature Genetics
1993
Corpus ID: 26331190
The vast majority of patients with fragile X syndrome show a folate–sensitive fragile site at Xq27.3 (FRAXA) at the cytogenetic…
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