|
Rothmund-Thomson syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome.
|
9934984 |
1999 |
|
Rothmund-Thomson syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
By comparative Northern blot analysis, we show that the RECQL4 transcripts are severely down-regulated in the cells from RTS patients, similar to our previous observation for WRN transcripts in cells from Werner patients.
|
10552928 |
1999 |
|
Rothmund-Thomson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome.
|
10319867 |
1999 |
|
Rothmund-Thomson syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Here, we report that three RTS patients carried two types of compound heterozygous mutations in RECQL4.
|
10319867 |
1999 |
|
Rothmund-Thomson syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
This report strengthens the association between mutations in RECQL4 helicase gene and RTS.
|
10678659 |
2000 |
|
Rothmund-Thomson syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
This report strengthens the association between mutations in RECQL4 helicase gene and RTS.
|
10678659 |
2000 |
|
Rothmund-Thomson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This report strengthens the association between mutations in RECQL4 helicase gene and RTS.
|
10678659 |
2000 |
|
Rothmund-Thomson syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients.
|
11471165 |
2001 |
|
Rothmund-Thomson syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
In humans, defects in three family members are associated with disease conditions: BLM is defective in Bloom's syndrome, WRN in Werner's syndrome and RTS in Rothmund-Thomson syndrome.
|
11356154 |
2001 |
|
Rothmund-Thomson syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients.
|
11471165 |
2001 |
|
Rothmund-Thomson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In humans, a defect in the RecQ family helicases encoded by the BLM, WRN and RECQ4 genes gives rise to Bloom's (BS), Werner's (WS) and Rothmund-Thomson (RTS) syndromes, respectively.
|
12200042 |
2002 |
|
Rothmund-Thomson syndrome
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Rothmund-Thomson syndrome (RTS) is an autosomal recessive disorder caused by deleterious mutations in the RECQL4 gene on chromosome 8.
|
12016592 |
2002 |
|
Rothmund-Thomson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Rothmund-Thomson syndrome (RTS) is an autosomal recessive disorder caused by deleterious mutations in the RECQL4 gene on chromosome 8.
|
12016592 |
2002 |
|
Rothmund-Thomson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
An unusual mutation in RECQ4 gene leading to Rothmund-Thomson syndrome.
|
12379465 |
2002 |
|
Rothmund-Thomson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
While it is possible that defects of RECQL4 mRNA processing might account for part of the clinical variability observed for this syndrome, only a thorough analysis at both genomic and RNA level may allow a genotype-phenotype correlation in RTS patients, restricting the search of a second RTS locus to the specific patients.
|
12838562 |
2003 |
|
Rothmund-Thomson syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Abnormalities in the Recql4-deficient mice are similar to those in RTS patients, suggesting that defects in the Recql4 gene may indeed be responsible for RTS.
|
12915449 |
2003 |
|
Rothmund-Thomson syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Mutations in the RECQL4 gene, encoding a protein of the family of Werner (WRN) and Bloom (BLM) helicases, have been identified in a subset of RTS patients.
|
12838562 |
2003 |
|
Rothmund-Thomson syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Twenty-three RTS patients, including all 11 osteosarcoma patients, carried at least one of 19 truncating mutations in their RECQL4 genes.
|
12734318 |
2003 |
|
Rothmund-Thomson syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
The skeletal malformations in RAPADILINO and RTS patients as well as the high osteosarcoma risk in RTS propose a special role for RECQL4 in bone development.
|
12952869 |
2003 |
|
Rothmund-Thomson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Abnormalities in the Recql4-deficient mice are similar to those in RTS patients, suggesting that defects in the Recql4 gene may indeed be responsible for RTS.
|
12915449 |
2003 |
|
Rothmund-Thomson syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
Abnormalities in the Recql4-deficient mice are similar to those in RTS patients, suggesting that defects in the Recql4 gene may indeed be responsible for RTS.
|
12915449 |
2003 |
|
Rothmund-Thomson syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mutations predicted to result in the loss of RECQL4 protein function occurred in approximately two-thirds of RTS patients and are associated with risk of osteosarcoma.
|
12734318 |
2003 |
|
Rothmund-Thomson syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Twenty-three RTS patients, including all 11 osteosarcoma patients, carried at least one of 19 truncating mutations in their RECQL4 genes.
|
12734318 |
2003 |
|
Rothmund-Thomson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our data indicate that the RECQL4 gene is not a frequent target for somatic mutations in sporadic OS unrelated to RTS.
|
15221963 |
2004 |
|
Rothmund-Thomson syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The Rothmund-Thomson syndrome (growth retardation, skin and bone defects, predisposition to cancer) and the RAPADILINO syndrome are caused by mutations in the RECQL4 gene.
|
15317757 |
2004 |