Langer Mesomelic Dysplasia Syndrome

Known as: Langer mesomelic dyspalsia, LMD, Mesomelic dwarfism Langer type 
An autosomal recessive condition caused by mutation (s) in the SHOX gene, encoding short stature homeobox protein. The condition is characterized by… (More)

Topic mentions per year

Topic mentions per year

1976-2017
0102019762017

Papers overview

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2015
2015
Mammographic density (MD), after adjustment for a women’s age and body mass index, is a strong and independent risk factor for… (More)
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2009
2009
The present paper describes matrix-free laser desorption/ionisation mass spectrometric imaging (LDI-MSI) of highly localized UV… (More)
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Highly Cited
2008
Highly Cited
2008
BACKGROUND There is increasing evidence for a link between cerebrovascular disease and depression in the elderly but the… (More)
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2008
2008
OBJECT The authors tested the hypothesis that patients with metastatic posterior fossa lesions (MPFLs) treated with resection… (More)
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2007
2007
Although several lipid-modifying drug (LMD) treatments and strategies are available to successfully manage patients at risk for… (More)
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2007
2007
AIMS Recently, we observed in a hypothesis-generating exploratory search on the heritability of coronary morphology that left… (More)
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Highly Cited
2006
Highly Cited
2006
Deficiencies or mutations in the human pseudoautosomal SHOX gene are associated with a series of short-stature conditions… (More)
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2005
2005
Leri-Weill dyschondrosteosis (LWD) is a pseudoautosomal dominant disorder characterized by disproportionate short stature and a… (More)
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2002
2002
The SHOX (short-stature homeobox-containing) gene encodes isoforms of a homeodomain transcription factor important in human limb… (More)
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1987
1987
The mesomelic dysplasias are a heterogeneous group of genetic disorders with predominant skeletal manifestations in the forearms… (More)
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