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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)
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National Institutes of Health
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Related topics
Related topics
14 relations
Agenesis of corpus callosum
Aphasia
Congenital clubfoot
Hydrocephalus
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Broader (3)
Genetic Diseases, X-Linked
Intellectual Disability
Spastic 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
A. Lahoz
,
M. Alcaide-Gavilán
,
R. Daga
,
J. Jiménez
Genetics
2010
Corpus ID: 15890040
In Schizosaccharomyces pombe, Etd1 is a positive regulator of the septation initiation network (SIN), a conserved GTPase…
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2002
2002
Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease?
M. Parisi
,
R. Kapur
,
+4 authors
K. Leppig
American journal of medical genetics
2002
Corpus ID: 2421405
Congenital hydrocephalus associated with aqueductal stenosis and/or agenesis of the corpus callosum has been described in newborn…
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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.
G. Casale
,
Maria Singhal
,
+11 authors
Meilan Shen
Chemical Research in Toxicology
2001
Corpus ID: 8131487
Polycyclic aromatic hydrocarbons (PAH) are metabolized to electrophiles that can bind to DNA bases and destabilize the N-glycosyl…
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Highly Cited
2000
Highly Cited
2000
Masa y poder
Elías Canetti
2000
Corpus ID: 142843507
2000
2000
Mutagenic potential of guanine N2 adducts of butadiene mono- and diolepoxide.
J. R. Carmical
,
Mingzhu Zhang
,
L. Nechev
,
C. Harris
,
Thomas M Harris
,
R. S. Lloyd
Chemical Research in Toxicology
2000
Corpus ID: 29042761
To explore the role of guanine N(2) adducts of stereoisomeric butadiene metabolites in butadiene-induced mutagenesis, 11-mer…
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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*
K. Furge
,
Q. Cheng
,
Mira Jwa
,
Sejeong Shin
,
K. Song
,
C. Albright
Journal of Biological Chemistry
1999
Corpus ID: 2780001
In the fission yeast Schizosaccharomyces pombe, septation and constriction of the actomyosin ring for cell division are…
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Review
1998
Review
1998
A silent mutation, C924T (G308G), in the L1CAM gene results in X linked hydrocephalus (HSAS).
Y. Du
,
C. Dickerson
,
A. Aylsworth
,
C. Schwartz
Journal of Medical Genetics
1998
Corpus ID: 42356631
The L1 cell adhesion molecule (L1CAM) is a neuronal gene involved in the development of the nervous system. Mutations in L1CAM…
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1996
1996
High temperature resins based on allylamine/bismaleimides
King-Fu Lin
,
Jin-Sing Lin
,
Chen-Hwa Cheng
1996
Corpus ID: 53378787
Review
1996
Review
1996
Response to cardiac arrests in a hospital setting: delays in ventilation.
B. Brenner
,
J. Kauffmann
Resuscitation
1996
Corpus ID: 8697778
1994
1994
Site-specific mutagenesis by a propanodeoxyguanosine adduct carried on an M13 genome.
P. Burcham
,
L. Marnett
Journal of Biological Chemistry
1994
Corpus ID: 12199593
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