Oto-Palato-digital syndrome type 1

Known as: Otopalatodigital syndrome, type 1, syndrome taybi, OPD I SYNDROME 
A rare, X-linked dominant inherited syndrome caused by mutations in the FLNA gene. It is characterized by hearing loss caused by malformations in the… (More)
National Institutes of Health

Papers overview

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Highly Cited
2014
Highly Cited
2014
PURPOSE To analyze the durability and toxicity of radiotherapeutic local ablative therapy (LAT) applied to extra-central nervous… (More)
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Highly Cited
2009
Highly Cited
2009
Phase imaging with a high-resolution wavefront sensor is considered. This is based on a quadriwave lateral shearing… (More)
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2007
2007
AbstractWe report the case of a 12 year-old boy with oto-palato-digital syndrome type II (OPD II). He had various anomalies at… (More)
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2007
2007
The Rubinstein–Taybi syndrome (RSTS, MIM 180849), a dominant Mendelian disorder with typical face, short stature, skeletal… (More)
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Highly Cited
2005
Highly Cited
2005
CREB-binding protein and p300 function as transcriptional coactivators in the regulation of gene expression through various… (More)
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2005
2005
Rubinstein–Taybi syndrome (RSTS) is a distinct dominant disorder characterized by short stature, typical face, broad angulated… (More)
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Highly Cited
2002
Highly Cited
2002
The set of person and number features necessary to characterize the pronominal paradigms of the world’s languages is highly… (More)
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2000
2000
Rubinstein-Taybi syndrome (RTS) is a malformation syndrome characterised by facial abnormalities, broad thumbs, broad big toes… (More)
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Highly Cited
1998
Highly Cited
1998
Isothiocyanates and their naturally occurring glucosinolate precursors are widely consumed as part of a diet rich in cruciferous… (More)
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1977
1977
The first two cases, reported in Australia of Ot-Palao-Digitalsyyndrome, in two half brothers are described. They show the most… (More)
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