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HOYERAAL-HREIDARSSON SYNDROME

Known as: Cerebellar hypoplasia with pancytopenia, HHS, Hoyeraal Hreidarsson syndrome 
National Institutes of Health

Related topics

Related topics

5 relations

Broader (4)

Dyskeratosis CongenitaFetal Growth RetardationIntellectual DisabilityMicrocephaly
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
Hoyeraal–Hreidarsson (HH) syndrome is a multisystem genetic disorder characterized by very short telomeres and considered a… 
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
Dyskeratosis congenita (DC) is a heterogeneous inherited bone marrow failure and cancer predisposition syndrome in which germline… 
Highly Cited
2011
Highly Cited
2011
rRNA pseudouridylation defects affect ribosomal ligand binding and translational fidelity from yeast to human cells.
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
Telomeres, the protein–DNA complexes at the ends of linear chromosomes, are protected and regulated by the shelterin molecules… 
Highly Cited
2008
Highly Cited
2008
Reliability and Accuracy of Handheld Stopwatches Compared With Electronic Timing in Measuring Sprint Performance
Hetzler, RK, Stickley, CD, Lundquist, KM, and Kimura, IF. Reliability and accuracy of handheld stopwatches compared with… 
Highly Cited
2007
Highly Cited
2007
Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome.
Dyskeratosis congenita (DC) is a multisystem bone marrow failure syndrome characterized by a triad of mucocutaneous abnormalities… 
Highly Cited
2007
Highly Cited
2007
Hypertonic saline during CPR: Feasibility and safety of a new protocol of fluid management during resuscitation.
Review
2006
Review
2006
Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation.
The two genes mutated in the bone marrow failure syndrome dyskeratosis congenita (DC) both encode components of the telomerase… 
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
Hoyeraal‐Hreidarsson (HH) syndrome is a multisystem disorder affecting boys characterized by aplastic anaemia (AA… 
Highly Cited
1990
Highly Cited
1990
Hyperosmotic saline dextran for resuscitation from traumatic-hemorrhagic hypotension: effect on regional blood flow.
The macro- and microcirculatory effect of small-volume resuscitation with hyperosmotic-hyperoncotic solutions was analyzed in 21… 
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