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Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant

Known as: PDP, AUTOSOMAL DOMINANT, Autosomal Dominant Pachydermoperiostoses, Pachydermoperiostosis, Autosomal Dominant 
National Institutes of Health

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Osteoarthropathy, Primary Hypertrophic

Papers overview

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Review
2019
Review
2019
Form fruste pachydermoperiostosis associated with ptosis and floppy eyelid syndrome
Pachydermoperiostosis (PDP), also known as idiopathic or primary hypertrophic osteoarthropathy or Touraine-Solente-Gole Syndrome… 
2019
2019
SCN1A mutations in focal epilepsy with auditory features: widening the spectrum of GEFS plus.
Epilepsy with auditory features (EAF) is a focal epilepsy syndrome characterized by prominent auditory ictal manifestations. Two… 
2019
2019
A novel elastin gene frameshift mutation in a Russian family with cutis laxa: a case report
BackgroundCutis laxa (CL) is a rare connective tissue disorder characterized by loose, redundant, inelastic and wrinkled skin… 
Highly Cited
2014
Highly Cited
2014
A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia
Background Spinocerebellar ataxias (SCAs) are a group of clinically and genetically diverse and autosomal-dominant disorders… 
2004
2004
Design and validation of therapeutic hammerhead ribozymes for autosomal dominant diseases.
Hammerhead ribozymes are small, catalytic RNAs that can be designed to effectively inhibit gene expression in an allele-specific… 
2003
2003
Melorheostosis in a family with autosomal dominant osteopoikilosis: Report of a third family
We describe a three‐generation family with clinical and radiological findings of osteopoikilosis in five and melorheostosis in… 
1999
1999
Autosomal dominant onychodystrophy and congenital sensorineural deafness
AbstractThe disease “deafness and onychodystrophy” (DOD) is characterized by congenital hearing impairment and dystrophic or… 
1995
1995
Frequencies of polymorphisms in the rhodopsin gene of Japanese retinitis pigmentosa and normal individuals
Frequencies of polymorphisms in the rhodopsin gene of Japanese retinitis pigmentosa and normal individuals 
Review
1989
Review
1989
Emery-Dreifuss muscular dystrophy and other related disorders.
There are some 30 or so different forms of muscular dystrophy which are conveniently classified according to the mode of… 
1967
1967
[Incomplete form of Toraine, Solente, Gole pachydermoperiostosis associated with articular hyperlaxity in a 7-year-old girl].
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