FAQ

CHROMOSOME Xq26.3 DUPLICATION SYNDROME

Known as: CHROMOSOME Xq26 MICRODUPLICATION SYNDROME, X-LINKED ACROGIGANTISM, XLAG 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1989-2017
01219892017

Related topics

Related topics

6 relations
Acanthosis NigricansAcromegalyPituitary AdenomaSleep Apnea Syndromes
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Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
CHROMOSOME Xq26.3 DUPLICATION SYNDROME
Sleep Apnea Syndromes
Pituitary Adenoma
Acromegaly
Snoring
Acanthosis Nigricans

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2017
Review
2017
A unique case of lissencephaly with Crouzon syndrome heterozygous for FGFR2 mutation
Dear Editor, We are pleased to report a unique case of posterior predominant lissencephaly in a child with Crouzon syndrome… (More)
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2014
2014
Postnatally diagnosed agenesis of corpus callosum in fetuses.
OBJECTIVES To examine and characterize the agenesis of the corpus calosum (ACC) in an epidemiological study of fetal autopsies… (More)
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2013
2013
Arx Polyalanine Expansion in Mice Leads to Reduced Pancreatic α-Cell Specification and Increased α-Cell Death
ARX/Arx is a homeodomain-containing transcription factor necessary for the specification and early maintenance of pancreatic… (More)
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2011
2011
Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX.
We report on a patient with agenesis of the corpus callosum (ACC), severe mental retardation, infantile spasms and subsequent… (More)
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2010
2010
Quantum wavepacket ab initio molecular dynamics: generalizations using an extended Lagrangian treatment of diabatic states coupled through multireference electronic structure.
We present a generalization to our previously developed quantum wavepacket ab initio molecular dynamics (QWAIMD) method by using… (More)
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Review
2008
Review
2008
[ARX--one gene--many phenotypes].
Mental retardation is a serious social problem. It affects 2-3% of the population. It is estimated that mutations in the ARX gene… (More)
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2007
2007
[Severe diarrhea associated with X-linked lissencephaly with absent corpus callosum and abnormal genitalia: a case report of successful treatment with the somatostatin analogue octreotide].
We report the clinical course of a case of X-linked lissencephaly with absent corpus callosum and abnormal genitalia (XLAG… (More)
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2007
2007
X-Linked Lissencephaly With Absent Corpus Callosum and Abnormal Genitalia
X-linked lissencephaly with absent corpus callosum and abnormal genitalia (XLAG) is caused by a mutation in the ARX gene. We… (More)
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1989
1989
A TaqI RFLP in Xq26----qter detected by pX301b [DXS311].
 
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