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OROFACIODIGITAL SYNDROME VI
Known as:
Polydactyly, Cleft Lip-Palate or Lingual Lump, and Psychomotor Retardation
, OFD6
, ORAL-FACIAL-DIGITAL SYNDROME, TYPE VI
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A rare, autosomal recessive syndrome characterized by orofacial anomalies, metacarpal abnormalities with central polydactyly, and cerebellar…
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National Institutes of Health
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Related topics
Related topics
24 relations
Autosomal recessive inheritance
Brachydactyly
Byzanthine arch palate
Cleft Lip
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Broader (1)
Orofaciodigital Syndromes
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
The clinical usefulness of biochemical (free β-hCg, PaPP-a) and ultrasound (nuchal translucency) parameters in prenatal screening of trisomy 21 in the first trimester of pregnancy.
K. Ziolkowska
,
P. Dydowicz
,
M. Sobkowski
,
Kinga Toboła-Wróbel
,
E. Wysocka
,
M. Pietryga
Ginekologia Polska
2019
Corpus ID: 96435832
OBJECTIVES The aim of the study was to analyze the correlation of multiples of the normal median of PAPP-A, free β-hCG levels and…
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2008
2008
PAPP-A: a possible pathogenic link to the instability of atherosclerotic plaque.
Xuping Li
,
Qiming Liu
,
Tao Zhou
,
Shuiping Zhao
,
Shenghua Zhou
Medical Hypotheses
2008
Corpus ID: 39617031
2007
2007
Dose dependency between cigarette consumption and reduced maternal serum PAPP‐A levels at 11–13+6 weeks of gestation
K. Kagan
,
V. Frisova
,
K. Nicolaides
,
K. Spencer
Prenatal Diagnosis
2007
Corpus ID: 22637594
To examine whether in smokers there is a significant dose dependency between the number of cigarettes per day and levels of free…
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Review
2005
Review
2005
[25 years' history of Váradi-Papp syndrome (orofaciodigital syndrome VI].
V. Váradi
,
Z. Papp
Orvosi Hetilap
2005
Corpus ID: 25797436
INTRODUCTION In 1978 the authors studied a male gypsy child with a multiple malformation syndrome. In this gypsy colony further…
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2003
2003
First‐trimester maternal serum PAPP‐A, SP1 and M‐CSF levels in normal and trisomic twin pregnancies
N. Bersinger
,
P. Noble
,
K. Nicolaides
Prenatal Diagnosis
2003
Corpus ID: 26889699
To study PAPP‐A and SP1 for biochemical trisomy screening in twin pregnancies and to investigate the role of maternal and…
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1999
1999
Maternal serum pregnancy‐associated plasma protein A (PAPP‐A) but not pregnancy‐specific β1‐glycoprotein (SP1) is a useful second‐trimester marker for fetal trisomy 18
N. Bersinger
,
N. Leporrier
,
M. Herrou
,
P. Leymarie
Prenatal Diagnosis
1999
Corpus ID: 3208378
The usefulness of early second‐trimester serum determinations of pregnancy‐associated plasma protein A (PAPP‐A) and pregnancy…
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1998
1998
First trimester screening for Down's syndrome using maternal serum PAPP‐A and free β=hCG in combination with fetal nuchal translucency thickness
R. Biagiotti
,
Laura Brizn
,
E. Periti
,
A. d'Agata
,
E. Vanzi
,
E. Cariati
British Journal of Obstetrics and Gynaecology
1998
Corpus ID: 44420255
The aim of this study was to evaluate the potential effectiveness of maternal serum pregnancy‐associated plasma protein A (PAPP‐A…
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1998
1998
Neuropathologic findings in a case of OFDS type VI (Váradi syndrome).
Barbara J. Doss
,
S. Jolly
,
+5 authors
William J. Kupsky
American journal of medical genetics
1998
Corpus ID: 38876733
Oral-facial-digital syndrome type VI (OFDS VI) or Váradi syndrome is a rare autosomal-recessive disorder distinguished from other…
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1994
1994
Midline defects of the orofaciodigital syndrome type VI (Váradi syndrome).
P. Wey
,
J. A. Neidich
,
L. Hoffman
,
G. Latrenta
The Cleft Palate-Craniofacial Journal
1994
Corpus ID: 24953632
The orofaciodigital syndromes (OFDS) represent a spectrum of anomalies of the palate, cranium, hands, and feet. Váradi syndrome…
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1978
1978
Immunological relationships of human and subhuman primate pregnancy-associated plasma proteins.
T. Lin
,
S. Halbert
International Archives of Allergy and Applied…
1978
Corpus ID: 20177148
(1) Four pregnancy-associated plasma proteins cross-reactive with antibodies to the human pregnancy proteins were detected in…
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