Cutis laxa, x-linked

Known as: EHLERS-DANLOS SYNDROME, OCCIPITAL HORN TYPE, FORMERLY, Ehlers-Danlos syndrome, occipital horn type (formerly), Cutis laxa X-linked 
 
National Institutes of Health

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Highly Cited
2011
Highly Cited
2011
BACKGROUND The objective direct and indirect costs of sleep-disordered breathing (snoring, sleep apnoea (SA) and obesity… (More)
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2008
2008
The benefits of using occupational health and safety management systems (OHS MS) have been typically restricted to large scale… (More)
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2007
2007
BACKGROUND Polysomnography findings between matched groups with obstructive sleep apnea (OSA) and OSA plus obesity… (More)
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Highly Cited
2003
Highly Cited
2003
STUDY OBJECTIVES To describe a 7-year follow-up (1992 to 2000) of patients who were treated by home nasal positive-pressure… (More)
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2002
2002
Menkes disease and occipital horn syndrome (OHS) are allelic neurogenetic disorders of copper transport associated with mutations… (More)
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2001
2001
Obstructive nonapneic respiratory events (ONAREs, i.e., obstructive hypopneas [OHs] and respiratory effort related arousals… (More)
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2001
2001
Genomic DNA of 17 unrelated Japanese males with Menkes disease and 2 Japanese males with occipital horn syndrome were studied for… (More)
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2000
2000
More than 150 point mutations have now been identified in the ATP7A gene. Most of these mutations lead to the classic form of… (More)
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1999
1999
Menkes disease is an X-linked copper deficiency disorder that results from mutations in the ATP7A ( MNK ) gene. A wide range of… (More)
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Review
1998
Review
1998
Menkes syndrome is an X-linked genetic copper deficiency that is usually fatal in early childhood. Milder variants exist… (More)
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