Spondyloepiphyseal dysplasia, Omani type

Known as: SED, Omani Type, SED with Luxations, CHST3 Type, Humero-Spinal Dysostosis 
 
National Institutes of Health

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22 relations
Acquired cubitus valgusAutosomal recessive inheritanceBrachydactylyByzanthine arch palate
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Broader (1)

Osteochondrodysplasias

Papers overview

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Highly Cited
2006
Highly Cited
2006
Characterization of brain neurons that express enzymes mediating neurosteroid biosynthesis.
Allopregnanolone (ALLO) and tetrahydrodeoxycorticosterone (THDOC) are potent positive allosteric modulators of GABA action at… (More)
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Review
2005
Review
2005
Molecular biology of the 3beta-hydroxysteroid dehydrogenase/delta5-delta4 isomerase gene family.
The 3beta-hydroxysteroid dehydrogenase/Delta(5)-Delta(4) isomerase (3beta-HSD) isoenzymes are responsible for the oxidation and… (More)
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Highly Cited
2005
Highly Cited
2005
Microtensile bond strength of different components of core veneered all-ceramic restorations.
OBJECTIVES The present study aims to evaluate the core-veneer bond strength and the cohesive strength of the components of three… (More)
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Highly Cited
2004
Highly Cited
2004
Prophylaxis of early adrenal insufficiency to prevent bronchopulmonary dysplasia: a multicenter trial.
BACKGROUND Infants developing bronchopulmonary dysplasia (BPD) show decreased cortisol response to adrenocorticotropic hormone. A… (More)
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Highly Cited
2002
Highly Cited
2002
Tissue-specific changes in peripheral cortisol metabolism in obese women: increased adipose 11beta-hydroxysteroid dehydrogenase type 1 activity.
Cushing's syndrome and the metabolic syndrome share clinical similarities. Reports of alterations in the hypothalamic-pituitary… (More)
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Highly Cited
1999
Highly Cited
1999
Selective serotonin reuptake inhibitors directly alter activity of neurosteroidogenic enzymes.
The neurosteroid 3alpha-hydroxysteroid-5alpha-pregnan-20-one (allopregnanolone) acts as a positive allosteric modulator of gamma… (More)
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Review
1997
Review
1997
Developmental and functional biology of the primate fetal adrenal cortex.
The unique characteristics of the primate (particularly human) fetal adrenal were first realized in the early 1900s when its… (More)
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Highly Cited
1997
Highly Cited
1997
Placental 11 beta-hydroxysteroid dehydrogenase: a key regulator of fetal glucocorticoid exposure.
OBJECTIVE Placental 11 beta-hydroxysteroid dehydrogenase (11 beta-HSD), which converts active cortisol to inactive cortisone, has… (More)
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Highly Cited
1996
Highly Cited
1996
Inhibition of 11-beta-hydroxysteroid dehydrogenase in pregnant rats and the programming of blood pressure in the offspring.
Recent epidemiological studies have linked low birth weight with the later occurrence of cardiovascular and metabolic disorders… (More)
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Highly Cited
1991
Highly Cited
1991
Prehospital hypertonic saline/dextran infusion for post-traumatic hypotension. The U.S.A. Multicenter Trial.
The safety and efficacy of 7.5% sodium chloride in 6% dextran 70 (HSD) in posttraumatic hypotension was evaluated in Houston… (More)
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