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HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME

Known as: HLTS 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1988-2018
01219882018

Related topics

Related topics

7 relations
Absent eyebrowAutosomal recessive inheritanceHypotrichosisSOX18 wt Allele
(More)

Broader (2)

LymphedemaTelangiectasis

Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME
Autosomal recessive inheritance
Telangiectasis
Lymphedema
Testicular Hydrocele
Hypotrichosis

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2018
Review
2018
Further delineation of the SOX18-related Hypotrichosis, Lymphedema, Telangiectasia syndrome (HTLS).
The transcription factor SOX18 has been shown to play a role in the development of hair, blood and lymphatic vessels. Mutations… (More)
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2016
2016
A novel SOX18 mutation uncovered in Jordanian patient with hypotrichosis-lymphedema-telangiectasia syndrome by Whole Exome Sequencing.
The SOX18 gene encodes a transcription factor that plays a notable role in certain developmental contexts such as… (More)
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2016
2016
A new method to diagnose discoid lateral menisci on radiographs
The aim of this study was to prove that it is feasible to diagnose discoid lateral meniscus in radiographs. Plain radiographic… (More)
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2015
2015
Hypotrichosis-lymphedema-telangiectasia-renal defect associated with a truncating mutation in the SOX18 gene.
SOX18 mutations in humans are associated with both recessive and dominant hypotrichosis-lymphedema-telangiectasia syndrome (HLTS… (More)
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Review
2011
Review
2011
A technology audit: The state of human language technologies (HLT) R&D in South Africa
South Africa (SA) epitomises diversity, with the nation boasting eleven official languages. The field of human language… (More)
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2010
2010
A simplified and improved modeling approach for the structural fumigation process using computational fluid dynamics
A 3D Computational fluid dynamics (CFD) model of the fumigation process in the Hal Ross Flour Mill of Kansas State University… (More)
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2005
2005
Heterotopic vs. orthotopic liver transplantation for chronic liver disease: a case-control comparison of short-term and long-term outcomes.
Between 1986 and 1990 we performed heterotopic liver transplantation (HLT) in 17 patients with chronic liver disease. In spite of… (More)
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2005
2005
Lung versus heart-lung transplantation for cystic fibrosis: is the debate still open?
A lthough medical management has considerably improved, cystic fibrosis (CF) remains a major cause of mortality from suppurative… (More)
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2003
2003
An animal model for surgical anesthesia and analgesia: characterization with isoflurane anesthesia and remifentanil analgesia.
UNLABELLED With a traditional clamp test alone, quantitative evaluation of the level of surgical anesthesia/analgesia is not easy… (More)
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1988
1988
The pathology of combined heart-lung transplantation: an autopsy study.
Clinical heart-lung transplantation (HLT) began at Stanford University (Stanford, CA) in 1981, and since then, over 40 HLTs have… (More)
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