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HOYERAAL-HREIDARSSON SYNDROME
Known as:
Cerebellar hypoplasia with pancytopenia
, HHS
, Hoyeraal Hreidarsson syndrome
National Institutes of Health
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Related topics
Related topics
5 relations
Broader (4)
Dyskeratosis Congenita
Fetal Growth Retardation
Intellectual Disability
Microcephaly
GALNT3 gene
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Review
2015
Review
2015
Unraveling the pathogenesis of Hoyeraal–Hreidarsson syndrome, a complex telomere biology disorder
Galina Glousker
,
F. Touzot
,
P. Revy
,
Y. Tzfati
,
S. Savage
British journal of haematology
2015
Corpus ID: 13771177
Hoyeraal–Hreidarsson (HH) syndrome is a multisystem genetic disorder characterized by very short telomeres and considered a…
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Highly Cited
2013
Highly Cited
2013
A Recessive Founder Mutation in Regulator of Telomere Elongation Helicase 1, RTEL1, Underlies Severe Immunodeficiency and Features of Hoyeraal Hreidarsson Syndrome
Bari J. Ballew
,
V. Joseph
,
+21 authors
J. Petrini
PLoS genetics
2013
Corpus ID: 17823667
Dyskeratosis congenita (DC) is a heterogeneous inherited bone marrow failure and cancer predisposition syndrome in which germline…
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Highly Cited
2011
Highly Cited
2011
rRNA pseudouridylation defects affect ribosomal ligand binding and translational fidelity from yeast to human cells.
K. Jack
,
C. Bellodi
,
+9 authors
J. Dinman
Molecular cell
2011
Corpus ID: 36191961
Highly Cited
2010
Highly Cited
2010
Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal–Hreidarsson syndrome
F. Touzot
,
I. Callebaut
,
+6 authors
P. Revy
Proceedings of the National Academy of Sciences
2010
Corpus ID: 24883067
Telomeres, the protein–DNA complexes at the ends of linear chromosomes, are protected and regulated by the shelterin molecules…
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Highly Cited
2008
Highly Cited
2008
Reliability and Accuracy of Handheld Stopwatches Compared With Electronic Timing in Measuring Sprint Performance
R. Hetzler
,
C. Stickley
,
K. Lundquist
,
I. Kimura
Journal of strength and conditioning research
2008
Corpus ID: 25327400
Hetzler, RK, Stickley, CD, Lundquist, KM, and Kimura, IF. Reliability and accuracy of handheld stopwatches compared with…
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Highly Cited
2007
Highly Cited
2007
Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome.
A. Marrone
,
A. Walne
,
+5 authors
I. Dokal
Blood
2007
Corpus ID: 13919475
Dyskeratosis congenita (DC) is a multisystem bone marrow failure syndrome characterized by a triad of mucocutaneous abnormalities…
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Highly Cited
2007
Highly Cited
2007
Hypertonic saline during CPR: Feasibility and safety of a new protocol of fluid management during resuscitation.
R. Bender
,
M. Breil
,
+4 authors
M. Fischer
Resuscitation
2007
Corpus ID: 22237781
Review
2006
Review
2006
Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation.
T. Vulliamy
,
A. Marrone
,
S. Knight
,
A. Walne
,
P. Mason
,
I. Dokal
Blood
2006
Corpus ID: 1805267
The two genes mutated in the bone marrow failure syndrome dyskeratosis congenita (DC) both encode components of the telomerase…
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Highly Cited
1999
Highly Cited
1999
Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal‐Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1
S. Knight
,
N. Heiss
,
+8 authors
I. Dokal
British journal of haematology
1999
Corpus ID: 23750791
Hoyeraal‐Hreidarsson (HH) syndrome is a multisystem disorder affecting boys characterized by aplastic anaemia (AA…
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Highly Cited
1990
Highly Cited
1990
Hyperosmotic saline dextran for resuscitation from traumatic-hemorrhagic hypotension: effect on regional blood flow.
U. Kreimeier
,
U. Brückner
,
S. Niemczyk
,
K. Messmer
Circulatory shock
1990
Corpus ID: 45255349
The macro- and microcirculatory effect of small-volume resuscitation with hyperosmotic-hyperoncotic solutions was analyzed in 21…
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