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S Annunen

Explore the profile of S Annunen including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 6
Citations 280
Followers 0
Related Specialties
Biochemistry
Genetics
Science
Top 10 Co-Authors
L Ala-Kokko
D J Prockop
T Pihlajamaa
P Paassilta
J Korkko
M Perala
M L Warman
J Lohiniva
M Somer
I Kaitila
Published In
Am J Hum Genet
Proc Natl Acad Sci U S A
Science
Matrix Biol
J Biol Chem
Affiliations
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Recent Articles
1.
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes
Annunen S, Korkko J, Czarny M, Warman M, Brunner H, Kaariainen H, et al.
Am J Hum Genet . 1999 Sep; 65(4):974-83. PMID: 10486316
Stickler and Marshall syndromes are dominantly inherited chondrodysplasias characterized by midfacial hypoplasia, high myopia, and sensorineural-hearing deficit. Since the characteristics of these syndromes overlap, it has been argued whether they...
2.
Complete sequence of the 23-kilobase human COL9A3 gene. Detection of Gly-X-Y triplet deletions that represent neutral variants
Paassilta P, Pihlajamaa T, Annunen S, Brewton R, Wood B, Johnson C, et al.
J Biol Chem . 1999 Jul; 274(32):22469-75. PMID: 10428822
We report the complete sequence of the human COL9A3 gene that encodes the alpha3 chain of heterotrimeric type IX collagen, a member of the fibril-associated collagens with interrupted triple helices...
3.
An allele of COL9A2 associated with intervertebral disc disease
Annunen S, Paassilta P, Lohiniva J, Perala M, Pihlajamaa T, Karppinen J, et al.
Science . 1999 Jul; 285(5426):409-12. PMID: 10411504
Intervertebral disc disease is one of the most common musculoskeletal disorders. A number of environmental and anthropometric risk factors may contribute to it, and recent reports have suggested the importance...
4.
COL9A3: A third locus for multiple epiphyseal dysplasia
Paassilta P, Lohiniva J, Annunen S, Bonaventure J, Le Merrer M, Pai L, et al.
Am J Hum Genet . 1999 Mar; 64(4):1036-44. PMID: 10090888
Multiple epiphyseal dysplasia (MED), an autosomal dominant osteochondrodysplasia, is a clinically and genetically heterogeneous disorder characterized by mild short stature and early-onset osteoarthritis. The phenotypic spectrum includes the mild Ribbing...
5.
Human COL9A1 and COL9A2 genes. Two genes of 90 and 15 kb code for similar polypeptides of the same collagen molecule
Pihlajamaa T, Vuoristo M, Annunen S, Perala M, Prockop D, Ala-Kokko L
Matrix Biol . 1998 Aug; 17(3):237-41. PMID: 9707347
Here we report the complete structure for the human COL9A1 and the complete sequence for the human COL9A2 genes. The COL9A1 gene is about 90 kb and consists of 38...
6.
Conformation sensitive gel electrophoresis for simple and accurate detection of mutations: comparison with denaturing gradient gel electrophoresis and nucleotide sequencing
Korkko J, Annunen S, Pihlajamaa T, Prockop D, Ala-Kokko L
Proc Natl Acad Sci U S A . 1998 Mar; 95(4):1681-5. PMID: 9465076
Previously, an assay called conformation sensitive gel electrophoresis (CSGE) was developed for scanning PCR products for the presence of single-base and larger base mismatches in DNA. The assay was based...