Microphthalmia, Syndromic 3

Known as: Microphthalmia And Esophageal Atresia Syndrome, Syndromic Microphthalmia 3, Anophthalmia-Esophageal-Genital Syndrome 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

2003-2017
012320032017

Papers overview

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2018
2018
SOX2 variants have been identified in multiple patients with severe ocular anomalies and pituitary dysfunction, in addition to… (More)
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2017
2017
Congenital heart disease (CHD) is the most common congenital disorder among live births. When associated with extracardiac… (More)
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2015
2015
STUDY OBJECTIVES Obstructive sleep symptoms are common in children with craniofacial malformations (CFM). However objective data… (More)
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2015
2015
OBJECTIVES Keratocystic odontogenic tumors (KCOTs) are benign cystic lesions of the jaws that occur sporadically in isolation or… (More)
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2014
2014
Pierre Robin sequence (PRS) is a condition present at birth. It is characterized by micrognathia, cleft palate, upper airway… (More)
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2013
2013
AIMS Heterozygous mutations in the transcription factor Nkx2.5 indicate a genetic cause for congenital heart diseases (CHDs) in… (More)
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2011
2011
SOX2 is an early developmental transcription factor and marker of stem cells that has recently been implicated in the development… (More)
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Highly Cited
2011
Highly Cited
2011
The HMG-box transcription factor Sox2 plays a role throughout neurogenesis and also acts at other stages of development, as… (More)
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2011
2011
BACKGROUND Derangements in the maternal methylation pathway, expressed by global hypomethylation and hyperhomocysteinemia, are… (More)
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2004
2004
Conformationally constrained chiral PNA analogues were designed on the basis of stereospecific imposition of a 1,2-cis… (More)
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