Trichorhinophalangeal dysplasia type I

Known as: TRPS1, Trichorhinophalangeal Syndrome, Type I, Trichorhinophalangeal (TRP) syndrome 1 
A rare autosomal dominant syndrome caused by mutations in the TRPS1 gene. It is characterized by distinctive facial appearance (sparse hair, pear… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1974-2017
0102019742017

Papers overview

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Highly Cited
2013
Highly Cited
2013
Atypical chronic myeloid leukemia (aCML) shares clinical and laboratory features with CML, but it lacks the BCR-ABL1 fusion. We… (More)
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Highly Cited
2013
Highly Cited
2013
Here we report whole-exome sequencing of individuals with various myeloid malignancies and identify recurrent somatic mutations… (More)
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2013
2013
cells. Blood 2004; 103: 3535–3543. 6 Goux D, Coudert JD, Maurice D, Scarpellino L, Jeannet G, Piccolo S et al. Cooperating pre-T… (More)
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Highly Cited
2012
Highly Cited
2012
Endometrial cancer is the most common gynecological malignancy, with more than 280,000 cases occurring annually worldwide… (More)
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Highly Cited
2011
Highly Cited
2011
The basal-like subtype of breast cancer has an aggressive clinical behavior compared to that of the luminal subtype. We… (More)
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Highly Cited
2010
Highly Cited
2010
Schinzel-Giedion syndrome is characterized by severe mental retardation, distinctive facial features and multiple congenital… (More)
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Highly Cited
2010
Highly Cited
2010
Around 20% of breast cancers (BC) show ERBB2 gene amplification and overexpression of the ERBB2 tyrosine kinase receptor. They… (More)
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Highly Cited
2001
Highly Cited
2001
Tricho-rhino-phalangeal syndrome (TRPS) is characterized by craniofacial and skeletal abnormalities. Three subtypes have been… (More)
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Highly Cited
2000
Highly Cited
2000
Tricho-rhino-phalangeal syndrome type I (TRPS I, MIM 190350) is a malformation syndrome characterized by craniofacial and… (More)
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Highly Cited
1995
Highly Cited
1995
Hereditary multiple exostoses is an autosomal dominant disorder that is characterized by short stature and multiple, benign bone… (More)
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