Seckel syndrome

Known as: SCKL1, SECKEL SYNDROME 1, seckel's syndrome 
A rare autosomal recessive inherited syndrome caused by mutations in the ATR gene, RBBP8 gene, CENPJ gene, CEP152 gene, CEP63 gene, NIN gene, DNA2… (More)
National Institutes of Health

Papers overview

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Highly Cited
2011
Highly Cited
2011
Functional impairment of DNA damage response pathways leads to increased genomic instability. Here we describe the centrosomal… (More)
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Highly Cited
2010
Highly Cited
2010
BACKGROUND Primordial dwarfism (PD) is an extremely rare, clinicallyheterogeneous condition characterised by profound prenatal… (More)
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Highly Cited
2009
Highly Cited
2009
Although DNA damage is considered a driving force for aging, the nature of the damage that arises endogenously remains unclear… (More)
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Highly Cited
2008
Highly Cited
2008
Large brain size is one of the defining characteristics of modern humans. Seckel syndrome (MIM 210600), a disorder of markedly… (More)
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Highly Cited
2004
Highly Cited
2004
To date, the only reported genetic defect identified in the developmental disorder, Seckel syndrome, is a mutation in ataxia… (More)
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Highly Cited
2004
Highly Cited
2004
Faithful segregation of replicated chromosomes is essential for maintenance of genetic stability and seems to be monitored by… (More)
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Highly Cited
2004
Highly Cited
2004
Seckel syndrome (SCKL) is a rare, genetically heterogeneous disorder, with dysmorphic facial appearance, growth retardation… (More)
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Highly Cited
2003
Highly Cited
2003
Seckel syndrome (OMIM 210600) is an autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism… (More)
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Highly Cited
1997
Highly Cited
1997
Laron syndrome [growth hormone (GH) insensitivity syndrome] is a hereditary dwarfism resulting from defects in the GH receptor… (More)
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Highly Cited
1981
Highly Cited
1981
Five unrelated patients with a previously unrecognized mental retardation malformation syndrome are presented. Clinical features… (More)
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