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HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME
Known as:
HLTS
National Institutes of Health
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Related topics
Related topics
9 relations
Absent eyebrow
Autosomal recessive inheritance
Hypotrichosis
SOX18 wt Allele
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Broader (2)
Lymphedema
Telangiectasis
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
A novel autosomal dominant mutation in SOX18 resulting in a fatal case of hypotrichosis–lymphedema–telangiectasia syndrome
H. Wangberg
,
K. Wigby
,
Marilyn C. Jones
American Journal of Medical Genetics. Part A
2018
Corpus ID: 56484764
Hypotrichosis–lymphedema–telangiectasia syndrome (HLTS) is a rare disorder caused by autosomal recessive and autosomal dominant…
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2016
2016
A new method to diagnose discoid lateral menisci on radiographs
Wenwei Jiang
,
Xifan Li
,
H. Su
,
Chunxi Yang
Knee Surgery, Sports Traumatology, Arthroscopy
2016
Corpus ID: 23629992
PurposeThe aim of this study was to prove that it is feasible to diagnose discoid lateral meniscus in radiographs. Plain…
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2016
2016
A novel SOX18 mutation uncovered in Jordanian patient with hypotrichosis-lymphedema-telangiectasia syndrome by Whole Exome Sequencing.
F. Bastaki
,
M. Mohamed
,
+5 authors
A. R. Hamzeh
Molecular and Cellular Probes
2016
Corpus ID: 9933324
2015
2015
Hypotrichosis‐lymphedema‐telangiectasia‐renal defect associated with a truncating mutation in the SOX18 gene
S. Moalem
,
P. Brouillard
,
+6 authors
D. Chitayat
Clinical Genetics
2015
Corpus ID: 32417398
SOX18 mutations in humans are associated with both recessive and dominant hypotrichosis–lymphedema–telangiectasia syndrome (HLTS…
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2012
2012
Development and validation of a general health literacy test in Singapore.
Y. Ko
,
J. Lee
,
M. Toh
,
W. Tang
,
A. S. Tan
Health Promotion International
2012
Corpus ID: 27827094
Due to the concern of equating correct pronunciation with comprehension and the differences in health care systems, existing…
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2011
2011
TLR2‐dependent modulation of dendritic cells by LT‐IIa‐B5, a novel mucosal adjuvant derived from a type II heat‐labile enterotoxin
Chang Hoon Lee
,
P. Masso-Welch
,
G. Hajishengallis
,
T. Connell
Journal of Leukocyte Biology
2011
Corpus ID: 2274839
A host of human pathogens invades the body at mucosal surfaces. Yet, strong, protective mucosal immune responses directed against…
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2004
2004
A rabbit model for evaluation of surgical anesthesia and analgesia: characterization and validation with isoflurane anesthesia and fentanyl analgesia
M. Hayashida
,
A. Fukunaga
,
K. Fukuda
,
S. Yamazaki
,
Hideko Arita
,
K. Hanaoka
Journal of Anesthesia
2004
Corpus ID: 30550588
PurposeWith a clamp test, quantitative estimation of the level of surgical anesthesia/analgesia is not easy. We have developed a…
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2003
2003
An Animal Model for Surgical Anesthesia and Analgesia: Characterization with Isoflurane Anesthesia and Remifentanil Analgesia
M. Hayashida
,
A. Fukunaga
,
K. Hanaoka
Anesthesia and Analgesia
2003
Corpus ID: 45120602
With a traditional clamp test alone, quantitative evaluation of the level of surgical anesthesia/analgesia is not easy. We have…
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1990
1990
Efficient signal coding with hierarchical lapped transforms
Henrique S. Malvar
IEEE International Conference on Acoustics…
1990
Corpus ID: 62298887
The hierarchical lapped transform (HLT) is defined. It is based on the modulated lapped transform (MLT). The HLT has a much lower…
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Highly Cited
1988
Highly Cited
1988
The pathology of combined heart-lung transplantation: an autopsy study.
Henry D. Tazelaar
,
S. A. Yousem
Human Pathology
1988
Corpus ID: 23929071
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