ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED

Known as: Alpha-thalassemia X-linked mental retardation syndrome, Alpha-Thalassemia-Mental Retardation Syndrome, Nondeletion Type, X-Linked, Alpha thalassemia mental retardation syndrome, non deletion type, X-linked 
A rare, X-linked recessive inherited syndrome caused by mutations in the ATRX gene. It is characterized by intellectual disability, developmental… (More)
National Institutes of Health

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2012
2012
We investigated oxidative stress response and histopathological changes in the brain and kidney of the common carp after a 40-d… (More)
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Highly Cited
2009
Highly Cited
2009
Although autosomal forms of nonsyndromic mental retardation account for the majority of cases of mental retardation, the genes… (More)
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Highly Cited
2006
Highly Cited
2006
In higher eukaryotic organisms, the checkpoint kinase 1 (Chk1) contributes essential functions to both cell cycle and checkpoint… (More)
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Review
2006
Review
2006
X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial… (More)
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Highly Cited
2005
Highly Cited
2005
In families with nonsyndromic X-linked mental retardation (NS-XLMR), >30% of mutations seem to cluster on proximal Xp and in the… (More)
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Highly Cited
2005
Highly Cited
2005
ATR associates with the regulatory protein ATRIP that has been proposed to localize ATR to sites of DNA damage through an… (More)
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Highly Cited
2004
Highly Cited
2004
A novel X-linked mental retardation (XLMR) syndrome was recently identified, resulting from creatine deficiency in the brain… (More)
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1999
1999
Ataxia telangiectasia mutated (ATM)- and Rad3-related protein (ATR) is a phosphatidylinositol-kinase (PIK)-related kinase that… (More)
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Highly Cited
1996
Highly Cited
1996
It was shown recently that mutations of the ATRX gene give rise to a severe, X-linked form of syndromal mental retardation… (More)
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Highly Cited
1995
Highly Cited
1995
The ATR-X syndrome is an X-linked disorder comprising severe psychomotor retardation, characteristic facial features, genital… (More)
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