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Bruck syndrome: neonatal presentation and natural course in three patients.

Leroy(J G),Nuytinck(L),De Paepe(A),De Ramm... Pediatr Radiol 1999-01-05

...COL1A1 and COL1A2 genes, the pathogenesis of this severe disorder of connective tissue remains largely unknown.

COL1A1-PDGFB fusion in a ring chromosome 4 found in a dermatofibrosarcoma pro...

Navarro(M),Simon(M P),Migeon(C),Turc-Carel... Genes Chromosomes Cancer 1999-05-24

...COL1A1 gene on chromosome 17 and the PDGFB gene on chromosome 22. Out of our series of 16 DPs, we detected an extra ring...

Modulation of basal expression of the human alpha1(I) procollagen gene (COL1A...

Artlett(C M),Chen(S J),Varga(J),Jimenez(S ... Matrix Biol 1999-02-02

...COL1A1 transcription in normal human dermal fibroblasts. Transient transfection studies revealed that 85% of the basal C...

Association of polymorphism at the type I collagen (COL1A1) locus with reduce...

Keen(R W),Woodford-Richens(K L),Grant(S F)... Arthritis Rheum 1999-03-03

To examine the relationship between a common polymorphism within intron 1 of the COL1A1 gene and osteoporosis in a neste...

Prenatal diagnosis of osteogenesis imperfecta type I by COL1A1 null-allele te...

Nuytinck(L),Sayli(B S),Karen(W),De Paepe(A... Prenat Diagn 1999-11-18

...COL1A1 allele (null-allele). Owing to the lack of mutant mRNA, genomic screening of the COL1A1 and COL1A2 genes is requi...

A novel intragenic polymorphism within the COL1A1 locus which can be detected...

Mirandola(S),Pignatti(P F),Mottes(M) Mol Cell Probes 1999-09-13

...COL1A1 genomic sequence (GenBank AF017178) was found in three unrelated patients, during the search for OI causal mutati...

Reliable and sensitive detection of premature termination mutations using a p...

Bateman(J F),Freddi(S),Lamandé(S R),Byers(... Hum Mutat 1999-06-10

...COL1A1) mRNA containing nonsense mutations that normally resulted in mutant mRNA degradation. Stabilisation of mutant mi...

Transforming growth factor beta1 induces the expression of alpha1(I) procolla...

García-Trevijano(E R),Iraburu(M J),Fontana... Hepatology 1999-03-29

...col1a1 gene up-regulation. We transfected HSC with chimeric plasmids driven by different segments of the mouse col1a1 pr...

Bone resorption induced by parathyroid hormone is strikingly diminished in co...

Zhao(W),Byrne(M H),Boyce(B F),Krane(S M) J Clin Invest 1999-04-13

...Col1a1 that are resistant to collagenase cleavage of type I collagen. Human PTH(1-34) was injected subcutaneously over t...

A case of dermatofibrosarcoma protuberans with a ring chromosome 5 and a rear...

Gisselsson(D),Höglund(M),O'Brien(K P),Duma... Cancer Lett 1999-03-23

...COL1A1 and PDGFB sequences. This is the first case of DFSP with multiple copies of COL1A1 and PDGFB not confined to ring...

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