Susanna Annunen

From rare syndromes to a common disease. Mutations in minor cartilage collagen genes cause Marshall and Stickler syndromes and intervertebral disc disease (1999)

Annunen, Susanna

Dissertation

From rare syndromes to a common disease : mutations in minor cartilage collagen genes cause Marshall and Stickler syndromes and intervertebral disc disease / (1999)

Annunen, Susanna.

Diss. -- Oulun yliopisto.

Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. (1999)

Annunen, Susanna, K Rkk , Jarmo, Czarny, Malwina, Warman, Matthew L., Brunner, Han G., K Ri Inen, Helena, ...

Stickler and Marshall syndromes are dominantly inherited chondrodysplasias characterized by midfacial hypoplasia, high myopia, and sensorineural-hearing deficit. Since the characteristics of these...

Conformation sensitive gel electrophoresis for simple and accurate detection of mutations: Comparison with denaturing gradient gel electrophoresis and nucleotide sequencing

Körkkö, Jarmo, Annunen, Susanna, Pihlajamaa, Tero, Prockop, Darwin J., Ala-Kokko, Leena

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...

Splicing Mutations of 54-bp Exons in the COL11A1 Gene Cause Marshall Syndrome, but Other Mutations Cause Overlapping Marshall/Stickler Phenotypes

Annunen, Susanna, Körkkö, Jarmo, Czarny, Malwina, Warman, Matthew L., Brunner, Han G., Kääriäinen, Helena, ...

Stickler and Marshall syndromes are dominantly inherited chondrodysplasias characterized by midfacial hypoplasia, high myopia, and sensorineural-hearing deficit. Since the characteristics of these...

Conformation sensitive gel electrophoresis for simple and accurate detection of mutations: Comparison with denaturing gradient gel electrophoresis and nucleotide sequencing

Körkkö, Jarmo, Annunen, Susanna, Pihlajamaa, Tero, Prockop, Darwin J., Ala-Kokko, Leena

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...

Splicing Mutations of 54-bp Exons in the COL11A1 Gene Cause Marshall Syndrome, but Other Mutations Cause Overlapping Marshall/Stickler Phenotypes

Annunen, Susanna, Körkkö, Jarmo, Czarny, Malwina, Warman, Matthew L., Brunner, Han G., Kääriäinen, Helena, ...

Stickler and Marshall syndromes are dominantly inherited chondrodysplasias characterized by midfacial hypoplasia, high myopia, and sensorineural-hearing deficit. Since the characteristics of these...