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MASA SYNDROME (disorder)

Known as: ADDUCTED THUMB WITH MENTAL RETARDATION, Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs (MASA), X-Linked Hydrocephalus with Stenosis of the Aqueduct of Sylvius (Hsas) 
National Institutes of Health

Related topics

Related topics

14 relations
Agenesis of corpus callosumAphasiaCongenital clubfootHydrocephalus

Broader (3)

Genetic Diseases, X-LinkedIntellectual DisabilitySpastic Paraplegia, Hereditary

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2010
2010
Antagonistic Roles of PP2A-Pab1 and Etd1 in the Control of Cytokinesis in Fission Yeast
In Schizosaccharomyces pombe, Etd1 is a positive regulator of the septation initiation network (SIN), a conserved GTPase… 
2002
2002
Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease?
Congenital hydrocephalus associated with aqueductal stenosis and/or agenesis of the corpus callosum has been described in newborn… 
Highly Cited
2001
Highly Cited
2001
Detection and quantification of depurinated benzo[a]pyrene-adducted DNA bases in the urine of cigarette smokers and women exposed to household coal smoke.
Polycyclic aromatic hydrocarbons (PAH) are metabolized to electrophiles that can bind to DNA bases and destabilize the N-glycosyl… 
Highly Cited
2000
Highly Cited
2000
Masa y poder
2000
2000
Mutagenic potential of guanine N2 adducts of butadiene mono- and diolepoxide.
To explore the role of guanine N(2) adducts of stereoisomeric butadiene metabolites in butadiene-induced mutagenesis, 11-mer… 
1999
1999
Regions of Byr4, a Regulator of Septation in Fission Yeast, That Bind Spg1 or Cdc16 and Form a Two-component GTPase-activating Protein with Cdc16*
In the fission yeast Schizosaccharomyces pombe, septation and constriction of the actomyosin ring for cell division are… 
Review
1998
Review
1998
A silent mutation, C924T (G308G), in the L1CAM gene results in X linked hydrocephalus (HSAS).
The L1 cell adhesion molecule (L1CAM) is a neuronal gene involved in the development of the nervous system. Mutations in L1CAM… 
1996
1996
High temperature resins based on allylamine/bismaleimides
Review
1996
Review
1996
Response to cardiac arrests in a hospital setting: delays in ventilation.
1994
1994
Site-specific mutagenesis by a propanodeoxyguanosine adduct carried on an M13 genome.
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