OROFACIODIGITAL SYNDROME VI

Known as: Polydactyly, Cleft Lip-Palate or Lingual Lump, and Psychomotor Retardation, OFD6, ORAL-FACIAL-DIGITAL SYNDROME, TYPE VI 
A rare, autosomal recessive syndrome characterized by orofacial anomalies, metacarpal abnormalities with central polydactyly, and cerebellar… (More)
National Institutes of Health

Papers overview

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2011
2011
OBJECTIVE To investigate links between first trimester Down's syndrome screening markers and adverse pregnancy outcomes… (More)
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Highly Cited
2007
Highly Cited
2007
BACKGROUND PAPP-A is a marker used as part of the most effective method of screening for chromosomal anomalies in the first… (More)
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Highly Cited
2006
Highly Cited
2006
OBJECTIVE To describe the association between pregnancy associated plasma protein A (PAPP-A), alpha-fetoprotein (AFP) and adverse… (More)
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Highly Cited
2005
Highly Cited
2005
BACKGROUND Previous studies have shown an association between low first trimester maternal serum free beta-hCG and PAPP-A and… (More)
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2004
2004
Insulin secretion from pancreatic islet beta cells is a tightly regulated process, under the close control of blood glucose… (More)
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Highly Cited
2003
Highly Cited
2003
OBJECTIVE To find whether fbetahCG, PAPP-A and inhibin-A levels in maternal serum or fetal nuchal translucency (NT) thickness at… (More)
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Highly Cited
2000
Highly Cited
2000
In 25 cases of triploidy at 10-14 weeks of gestation, compared with 947 controls, the median multiple of the median (MoM) fetal… (More)
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2000
2000
We have studied maternal serum free beta-hCG and PAPP-A, and fetal nuchal translucency (NT) in a series of 46 cases of fetal… (More)
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1994
1994
The orofaciodigital syndromes (OFDS) represent a spectrum of anomalies of the palate, cranium, hands, and feet. Váradi syndrome… (More)
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1993
1993
OBJECTIVE To assess the relation between maternal serum pregnancy associated plasma protein A (PAPP-A) in the first trimester and… (More)
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