FAQ

Osteopoikilosis (disorder)

Known as: Osteopoikiloses, Osteopoikilosis, Osteopoikilosis [Disease/Finding] 
An asymptomatic, autosomal dominant trait in which pea-sized sclerotic spots, prominent in the metaphyseal area, are accompanied by unique cutaneous… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1941-2018
05101519412017

Related topics

Related topics

10 relations

Broader (1)

Congenital osteodystrophy

Narrower (1)

Dermatofibrosis lenticularis disseminata
Epiphysis of boneIn BloodMicrobiologicalSkeletal bone
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Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
Osteopoikilosis (disorder)
Skeletal bone
radiotherapeutic
prevention & control
Microbiological
Epiphysis of bone

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2007
2007
Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14.
This report presents the detection of a heterozygous deletion at chromosome 12q14 in three unrelated patients with a similar… (More)
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2007
2007
Deactivating germline mutations in LEMD3 cause osteopoikilosis and Buschke-Ollendorff syndrome, but not sporadic melorheostosis.
UNLABELLED Autosomal dominant OPK and BOS feature widespread foci of osteosclerotic trabeculae without or with skin lesions… (More)
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Highly Cited
2005
Highly Cited
2005
MAN1, an integral protein of the inner nuclear membrane, binds Smad2 and Smad3 and antagonizes transforming growth factor-beta signaling.
MAN1 (also known as LEMD3) is an integral protein of the inner nuclear membrane. Recently, mutations in MAN1 have been shown to… (More)
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Highly Cited
2004
Highly Cited
2004
Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis
Osteopoikilosis, Buschke-Ollendorff syndrome (BOS) and melorheostosis are disorders characterized by increased bone density. The… (More)
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2004
2004
Clinical features of ten cases of osteopoikilosis
A retrospective study was carried out of the ten cases of osteopoikilosis seen at this Orthopedic Unit over a 15-year period in… (More)
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2003
2003
Disorders associated with osteopoikilosis: 5 different lesions in a family.
Although osteopoikilosis is generally considered an accidental finding, several developmental dysplasias coexisting with this… (More)
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1997
1997
Melorheostosis in a patient with familial osteopoikilosis.
We report on a 40-year-old woman with melorheostosis who also had radiographic findings of generalized osteopoikilosis. Three of… (More)
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1992
1992
Epidemiological, clinical and radiological aspects of osteopoikilosis.
Osteopoikilosis is a rare condition showing characteristic sclerotic lesions on radiographic examination, which are diagnostic… (More)
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1984
1984
Osteopoikilosis: A radiological and pathological study
Anatomico-pathological and radiological studies of osteopoikilosis were performed in two cases, one involving a femoral head… (More)
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1978
1978
Osteosarcoma associated with osteopoikilosis.
 
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