Mandibuloacral dysostosis

Known as: Craniomandibular Dermatodysostosis, Mandibuloacral Dysplasia with Type A Lipodystrophy, Atypical, Lipodystrophy, type A, associated with mandibuloacral dysplasia 
A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1967-2018
05101519672018

Papers overview

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2017
2017
The R-package mada is a tool for the meta-analysis of diagnostic accuracy. In contrast to univariate meta-analysis, diagnostic… (More)
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2014
2014
The Multidimensional Work Motivation Scale: Validation evidence in seven languages and nine countries Marylène Gagné, Jacques… (More)
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2011
2011
Progeria syndromes are rare disorders that involve premature aging. Mutations in BANF1 have been recently reported to cause a new… (More)
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2010
Highly Cited
2010
The Asian monsoon system affects more than half of humanity worldwide, yet the dynamical processes that govern its complex… (More)
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2009
Highly Cited
2009
We describe the MADA+TOKAN toolkit, a versatile and freely available system that can derive extensive morphological and… (More)
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2007
2007
CONTEXT Mandibuloacral dysplasia type A (MADA; OMIM 248370) is a rare progeroid syndrome characterized by dysmorphic craniofacial… (More)
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2005
2005
Autosomal recessive mandibuloacral dysplasia [mandibuloacral dysplasia type A (MADA); Online Mendelian Inheritance in Man (OMIM… (More)
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2004
2004
This paper exploits relative price shocks induced by the Indonesian …nancial crisis to demonstrate a causal relationship between… (More)
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2003
2003
Myophosphorylase deficiency is characterized by exercise intolerance, muscle cramps, and recurrent myoglobinuria. Some patients… (More)
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1995
Highly Cited
1995
To determine which features of retroviral vector design most critically affect gene expression in hematopoietic cells in vivo, we… (More)
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